Yoshimitsu Fukushima

Yoshimitsu Fukushima

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Yoshimitsu Fukushima

Publications by authors named "Yoshimitsu Fukushima"

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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Authors:
Tomomi Yamaguchi Kyoko Takano Yuji Inaba Manami Morikawa Mitsuo Motobayashi Rie Kawamura Keiko Wakui Eriko Nishi Shin-Ichi Hirabayashi Yoshimitsu Fukushima Hiroyuki Kato Jun Takahashi Tomoki Kosho

Am J Med Genet A 2019 Jun 2;179(6):948-957. Epub 2019 Apr 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61142DOI Listing
June 2019

Frequency and clinical features of hearing loss caused by STRC deletions.

Authors:
Yoh Yokota Hideaki Moteki Shin-Ya Nishio Tomomi Yamaguchi Keiko Wakui Yumiko Kobayashi Kenji Ohyama Hiromitsu Miyazaki Rina Matsuoka Satoko Abe Kozo Kumakawa Masahiro Takahashi Hirofumi Sakaguchi Natsumi Uehara Takashi Ishino Tomoki Kosho Yoshimitsu Fukushima Shin-Ichi Usami

Sci Rep 2019 Mar 13;9(1):4408. Epub 2019 Mar 13.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/s41598-019-40586-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416315PMC
March 2019

Feasibility of myocardial flow reserve prediction without the use of dynamic data from myocardial perfusion positron emission tomography.

Authors:
Hidenobu Hashimoto Yoshimitsu Fukushima Shin-Ichiro Kumita Takeshi Tomiyama Tomonari Kiriyama

Int J Cardiovasc Imaging 2018 Aug 19;34(8):1323-1329. Epub 2018 Mar 19.

Department of Radiology, Nippon Medical School Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1007/s10554-018-1335-zDOI Listing
August 2018

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Authors:
Sayaka Kawashima Akie Nakamura Takanobu Inoue Keiko Matsubara Reiko Horikawa Keiko Wakui Kyoko Takano Yoshimitsu Fukushima Toshi Tatematsu Seiji Mizuno Junko Tsubaki Shigeo Kure Yoichi Matsubara Tsutomu Ogata Maki Fukami Masayo Kagami

J Clin Endocrinol Metab 2018 06;103(6):2083-2088

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1210/jc.2017-02780DOI Listing
June 2018

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.

Authors:
Hirokazu Morokawa Motoko Kamiya Keiko Wakui Mikiko Kobayashi Takashi Kurata Kazuyuki Matsuda Rie Kawamura Hiroyuki Kanno Yoshimitsu Fukushima Yozo Nakazawa Tomoki Kosho

Hum Genome Var 2018 21;5. Epub 2018 May 21.

2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

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http://www.nature.com/articles/s41439-018-0008-8
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http://dx.doi.org/10.1038/s41439-018-0008-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960645PMC
May 2018

Diagnostic performance of hybrid cardiac SPECT/CT imaging for patients with takotsubo cardiomyopathy.

Authors:
Yasuro Sugihara Yoshimitsu Fukushima Shin-Ichiro Kumita Hitoshi Takano Wataru Shimizu

Eur J Hybrid Imaging 2018 5;2(1). Epub 2018 Mar 5.

2Department of Cardiovascular Medicine, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi, Bunkyo-ward, Tokyo, 113-0022 Japan.

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http://dx.doi.org/10.1186/s41824-017-0023-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954745PMC
March 2018

4D Flow MR Imaging of Ophthalmic Artery Flow in Patients with Internal Carotid Artery Stenosis.

Authors:
Tetsuro Sekine Ryo Takagi Yasuo Amano Yasuo Murai Erika Orita Yoshimitsu Fukushima Yoshio Matsumura Shin-Ichiro Kumita

Magn Reson Med Sci 2018 Jan 27;17(1):13-20. Epub 2017 Mar 27.

Department of Radiology, Nippon Medical School.

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http://dx.doi.org/10.2463/mrms.mp.2016-0074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760228PMC
January 2018

Feasibility of combined risk stratification with coronary CT angiography and stress myocardial SPECT in patients with chronic coronary artery disease.

Authors:
Tomonari Kiriyama Yoshimitsu Fukushima Hiromitsu Hayashi Hitoshi Takano Shin-Ichiro Kumita

Ann Nucl Med 2018 Jan 6;32(1):22-33. Epub 2017 Oct 6.

Department of Radiology, Graduate School of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan.

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http://dx.doi.org/10.1007/s12149-017-1214-zDOI Listing
January 2018

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Authors:
Kyoko Takano Kazuya Goto Mitsuo Motobayashi Keiko Wakui Rie Kawamura Tomomi Yamaguchi Yoshimitsu Fukushima Tomoki Kosho

Eur J Med Genet 2017 Oct 12;60(10):521-526. Epub 2017 Jul 12.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.008DOI Listing
October 2017

A novel frameshift mutation of in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Authors:
Tsuneaki Yoshinaga Katsuya Nakamura Masumi Ishikawa Tomomi Yamaguchi Kyoko Takano Keiko Wakui Tomoki Kosho Kunihiro Yoshida Yoshimitsu Fukushima Yoshiki Sekijima

Hum Genome Var 2017 26;4:17052. Epub 2017 Oct 26.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/hgv.2017.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760PMC
October 2017

Usefulness of Single Photon Emission Computed Tomography/Computed Tomography Fusion-Hybrid Imaging to Evaluate Coronary Artery Disorders in Patients with a History of Kawasaki Disease.

Authors:
Masanori Abe Ryuji Fukazawa Shunichi Ogawa Makoto Watanabe Yoshimitsu Fukushima Tomonari Kiriyama Hiromitsu Hayashi Yasuhiko Itoh

J Nippon Med Sch 2016 ;83(2):71-80

Department of Pediatrics, Nippon Medical School.

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http://dx.doi.org/10.1272/jnms.83.71DOI Listing
April 2017

Prognostic value of lower limb perfusion single-photon emission computed tomography-computed tomography in patients with lower limb atherosclerotic peripheral artery disease.

Authors:
Hidenobu Hashimoto Yoshimitsu Fukushima Shin-Ichiro Kumita Masaaki Miyamoto Gen Takagi Junichi Yamazaki Takanori Ikeda

Jpn J Radiol 2017 Feb 21;35(2):68-77. Epub 2016 Nov 21.

Department of Cardiovascular Medicine, Faculty of Medicine, Toho University, 6-11-1, Omorinishi, Ota, Tokyo, 143-8541, Japan.

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http://dx.doi.org/10.1007/s11604-016-0602-yDOI Listing
February 2017

[Genetic Counseling of HBOC and Japanese Organization of HBOC].

Authors:
Yoshimitsu Fukushima

Gan To Kagaku Ryoho 2017 Feb;44(2):107-110

Dept. of Medical Genetics, Shinshu University School of Medicine.

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February 2017

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Authors:
Hideaki Moteki Hela Azaiez Christina M Sloan-Heggen Kevin Booth Shin-Ya Nishio Keiko Wakui Tomomi Yamaguchi Diana L Kolbe Yoh-Ichiro Iwasa A Eliot Shearer Yoshimitsu Fukushima Richard J H Smith Shin-Ichi Usami

Ann Otol Rhinol Laryngol 2016 Nov 28;125(11):918-923. Epub 2016 Jul 28.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489416661345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537730PMC
November 2016

Pseudonormal Corticomedullary Differentiation of the Kidney Assessed on T1-weighted Imaging for Chronic Kidney Disease Patients with Cirrhosis.

Authors:
Fumi Yamada Yasuo Amano Fumitaka Hidaka Yoshimitsu Fukushima Shinichiro Kumita

Magn Reson Med Sci 2015 12;14(3):165-71. Epub 2015 Feb 12.

Department of Radiology, Nippon Medical School.

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http://dx.doi.org/10.2463/mrms.2014-0044DOI Listing
September 2016

Evidence-based clinical practice guidelines for polycystic kidney disease 2014.

Authors:
Shigeo Horie Toshio Mochizuki Satoru Muto Kazushige Hanaoka Yoshimitsu Fukushima Ichiei Narita Kikuo Nutahara Ken Tsuchiya Kazuhiko Tsuruya Koichi Kamura Saori Nishio Tatsuya Suwabe Yoshifumi Ubara Eiji Ishimura Koichi Nakanishi Keiichi Furukawa Kenjiro Kimura Seiichi Matsuo

Clin Exp Nephrol 2016 Aug;20(4):493-509

Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1007/s10157-015-1219-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4956721PMC
August 2016

Erratum to: Evidence-based clinical practice guidelines for polycystic kidney disease 2014.

Authors:
Shigeo Horie Toshio Mochizuki Satoru Muto Kazushige Hanaoka Yoshimitsu Fukushima Ichiei Narita Kikuo Nutahara Ken Tsuchiya Kazuhiko Tsuruya Koichi Kamura Saori Nishio Tatsuya Suwabe Yoshifumi Ubara Eiji Ishimura Koichi Nakanishi Keiichi Furukawa Kenjiro Kimura Seiichi Matsuo

Clin Exp Nephrol 2016 08;20(4):510

Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1007/s10157-016-1285-5DOI Listing
August 2016

[Therapeutic angiogenesis for refractory peripheral arterial disease (PAD)].

Authors:
Masaaki Miyamoto Gen Takagi Yoshiaki Kubota Sonoko Kirinoki Masato Tezuka Shuhei Tara Wataru Shimizu Yoshimitsu Fukushima Shinichiro Kumita Yasuhiko Tabata

Nihon Rinsho 2016 Apr;74 Suppl 2:343-51

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April 2016

Prognostic Value of Myocardial Perfusion SPECT After Intravenous Bolus Administration of Nicorandil in Patients with Acute Ischemic Heart Failure.

Authors:
Yoshimitsu Fukushima Shin-ichiro Kumita Yukichi Tokita Naoki Sato

J Nucl Med 2016 Mar 3;57(3):385-91. Epub 2015 Dec 3.

Department of Cardiovascular Medicine, Nippon Medical School Hospital, Tokyo, Japan.

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http://dx.doi.org/10.2967/jnumed.115.162420DOI Listing
March 2016

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Authors:
Kyoko Takano Naoko Shiba Keiko Wakui Tomomi Yamaguchi Noriko Aida Yuji Inaba Yoshimitsu Fukushima Tomoki Kosho

Am J Med Genet A 2016 Feb 20;170A(2):322-328. Epub 2015 Oct 20.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.37432
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http://dx.doi.org/10.1002/ajmg.a.37432DOI Listing
February 2016

Imaging Angiogenesis Using 99mTc-Macroaggregated Albumin Scintigraphy in Patients with Peripheral Artery Disease.

Authors:
Gen Takagi Masaaki Miyamoto Yoshimitsu Fukushima Masahiro Yasutake Shuhei Tara Ikuyo Takagi Naoki Seki Shinichiro Kumita Wataru Shimizu

J Nucl Med 2016 Feb 5;57(2):192-7. Epub 2015 Nov 5.

Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.

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http://dx.doi.org/10.2967/jnumed.115.160937DOI Listing
February 2016

[Frontline of vascular regenerative therapy for refractory peripheral arterial diseases].

Authors:
Masaaki Miyamoto Hajime Takagi Yoshiaki Kubota Akihito Tetsuka Shuhei Tara Wataru Shimizu Yoshimitsu Fukushima Shinichiro Kumida Yasuhiko Tabata

Nihon Jibiinkoka Gakkai Kaiho 2015 Nov;118(11):1281-8

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November 2015

Patients with reduced heart rate response to adenosine infusion have low myocardial flow reserve in (13)N-ammonia PET studies.

Authors:
Takeshi Tomiyama Shin-ichiro Kumita Keiichi Ishihara Masaya Suda Minoru Sakurai Kenta Hakozaki Hidenobu Hashimoto Naoto Takahashi Hitoshi Takano Yasuhiro Kobayashi Tomonari Kiriyama Yoshimitsu Fukushima Wataru Shimizu

Int J Cardiovasc Imaging 2015 Jun 7;31(5):1089-95. Epub 2015 Apr 7.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan,

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http://dx.doi.org/10.1007/s10554-015-0654-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446519PMC
June 2015

Estimating Lymphodynamic Conditions and Lymphovenous Anastomosis Efficacy Using (99m)Tc-phytate Lymphoscintigraphy with SPECT-CT in Patients with Lower-limb Lymphedema.

Authors:
Takeshi Iimura Yoshimitsu Fukushima Shinichiro Kumita Rei Ogawa Hiko Hyakusoku

Plast Reconstr Surg Glob Open 2015 May 5;3(5):e404. Epub 2015 Jun 5.

Department of Plastic, Reconstructive and Regenerative Surgery, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan; and Department of Clinical Radiology, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1097/GOX.0000000000000375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457267PMC
May 2015

Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).

Authors:
Megumi Yoshimura-Furuhata Akira Nishimura-Tadaki Yoshiro Amano Takashi Ehara Yuko Hamasaki Masaki Muramatsu Seiichiro Shishido Atsushi Aikawa Riku Hamada Kenji Ishikura Hiroshi Hataya Yoshihiko Hidaka Shunsuke Noda Kenichi Koike Keiko Wakui Yoshimitsu Fukushima Naomichi Matsumoto Midori Awazu Noriko Miyake Tomoki Kosho

Am J Med Genet A 2015 Mar;167A(3):592-601

Department of Pediatrics, Nagano Red Cross Hospital, Nagano, Japan; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36942DOI Listing
March 2015

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Authors:
Eriko Nishi Seiji Mizuno Yuka Nanjo Tetsuya Niihori Yoshimitsu Fukushima Yoichi Matsubara Yoko Aoki Tomoki Kosho

Am J Med Genet A 2015 Feb 25;167A(2):407-11. Epub 2014 Nov 25.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36842DOI Listing
February 2015

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Authors:
Divya Mishra Takema Kato Hidehito Inagaki Tomoki Kosho Keiko Wakui Yasuhiro Kido Satoru Sakazume Mariko Taniguchi-Ikeda Naoya Morisada Kazumoto Iijima Yoshimitsu Fukushima Beverly S Emanuel Hiroki Kurahashi

Mol Cytogenet 2014 13;7:55. Epub 2014 Aug 13.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan.

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http://dx.doi.org/10.1186/s13039-014-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720PMC
December 2014

[Technical evaluation of medical practice--conversion from things to skill and art. Topics: V. Toward establishment of technical evaluation on medical practice: 4. Informed consent under unusual conditions, 2) Genetic counseling and evaluation of medical treatment fee].

Authors:
Yoshimitsu Fukushima Fumio Takada

Nihon Naika Gakkai Zasshi 2014 Dec;103(12):2962-7

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http://dx.doi.org/10.2169/naika.103.2962DOI Listing
December 2014

A definitive diagnosis of mucosa-associated lymphoid tissue lymphoma made at a second biopsy.

Authors:
Tsutomu Igarashi Akira Shimizu Hiroki Yamaguchi Yoshimitsu Fukushima Toru Igarashi Hiroshi Takahashi

J Nippon Med Sch 2013 ;80(6):475-80

Department of Ophthalmology, Nippon Medical School.

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http://dx.doi.org/10.1272/jnms.80.475DOI Listing
September 2014

Nuclear myocardial perfusion imaging with a cadmium-telluride semiconductor detector gamma camera in patients with acute myocardial infarction.

Authors:
Yoshimitsu Fukushima Shin-ichiro Kumita Tsuneaki Kawaguchi Takatoshi Maruyama Yoshiyuki Kawasaki Yasuhiro Shinkai

Ann Nucl Med 2014 Aug 31;28(7):646-55. Epub 2014 May 31.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ward, Tokyo, 113-8603, Japan,

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http://link.springer.com/10.1007/s12149-014-0859-0
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http://dx.doi.org/10.1007/s12149-014-0859-0DOI Listing
August 2014

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Authors:
Yoko Narumi Sachiko Nishina Motoharu Tokimitsu Yoko Aoki Rika Kosaki Keiko Wakui Noriyuki Azuma Toshinori Murata Fumio Takada Yoshimitsu Fukushima Tomoki Kosho

Am J Med Genet A 2014 May 24;164A(5):1272-6. Epub 2014 Mar 24.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.36433
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http://dx.doi.org/10.1002/ajmg.a.36433DOI Listing
May 2014

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Authors:
Kenji Shimizu Keiko Wakui Tomoki Kosho Nobuhiko Okamoto Seiji Mizuno Kazuya Itomi Shigeto Hattori Kimio Nishio Osamu Samura Yoshiyuki Kobayashi Yuko Kako Takashi Arai Oh-ishi Tsutomu Hiroshi Kawame Yoko Narumi Hirofumi Ohashi Yoshimitsu Fukushima

Am J Med Genet A 2014 Mar 19;164A(3):597-609. Epub 2013 Dec 19.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36308DOI Listing
March 2014

[Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].

Authors:
Keiko Tanaka Yoshiki Sekijima Kunihiro Yoshida Asako Mizuuchi Hiromi Yamashita Mariko Tamai Shu-ichi Ikeda Yoshimitsu Fukushima

Rinsho Shinkeigaku 2013 ;53(3):196-204

Department of Medical Genetics, Shinshu University School of Medicine.

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http://dx.doi.org/10.5692/clinicalneurol.53.196DOI Listing
February 2014

Surgical intervention for esophageal atresia in patients with trisomy 18.

Authors:
Eriko Nishi Shigeru Takamizawa Kenji Iio Yasumasa Yamada Katsumi Yoshizawa Tomoko Hatata Takehiko Hiroma Seiji Mizuno Hiroshi Kawame Yoshimitsu Fukushima Tomohiko Nakamura Tomoki Kosho

Am J Med Genet A 2014 Feb 5;164A(2):324-30. Epub 2013 Dec 5.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University Graduate School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36294DOI Listing
February 2014

Significant suppression of myocardial (18)F-fluorodeoxyglucose uptake using 24-h carbohydrate restriction and a low-carbohydrate, high-fat diet.

Authors:
Yasuhiro Kobayashi Shin-ichiro Kumita Yoshimitsu Fukushima Keiichi Ishihara Masaya Suda Minoru Sakurai

J Cardiol 2013 Nov 26;62(5):314-9. Epub 2013 Jun 26.

Department of Radiology, Nippon Medical School, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jjcc.2013.05.004DOI Listing
November 2013

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.

Authors:
Keiko Tanaka Yoshiki Sekijima Kunihiro Yoshida Mariko Tamai Tomoki Kosho Akihiro Sakurai Keiko Wakui Shu-ichi Ikeda Yoshimitsu Fukushima

J Hum Genet 2013 Aug 2;58(8):560-3. Epub 2013 May 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2013.34DOI Listing
August 2013

Voxel-based analysis of (201)Tl SPECT for grading and diagnostic accuracy of gliomas: comparison with ROI analysis.

Authors:
Tomoyuki Kuwako Sunao Mizumura Ryusuke Murakami Tamiko Yoshida Masato Shiiba Hidetaka Sato Yoshimitsu Fukushima Akira Teramoto Shin-Ichiro Kumita

Ann Nucl Med 2013 Jul 17;27(6):493-501. Epub 2013 Apr 17.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan.

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http://dx.doi.org/10.1007/s12149-013-0711-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713261PMC
July 2013

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

Authors:
Tomoki Kosho Nobuhiko Okamoto Hirofumi Ohashi Yoshinori Tsurusaki Yoko Imai Yumiko Hibi-Ko Hiroshi Kawame Tomomi Homma Saori Tanabe Mitsuhiro Kato Yoko Hiraki Takanori Yamagata Shoji Yano Satoru Sakazume Takuma Ishii Toshiro Nagai Tohru Ohta Norio Niikawa Seiji Mizuno Tadashi Kaname Kenji Naritomi Yoko Narumi Keiko Wakui Yoshimitsu Fukushima Satoko Miyatake Takeshi Mizuguchi Hirotomo Saitsu Noriko Miyake Naomichi Matsumoto

Am J Med Genet A 2013 Jun 1;161A(6):1221-37. Epub 2013 May 1.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35933DOI Listing
June 2013

Prediction of limb salvage after therapeutic angiogenesis by autologous bone marrow cell implantation in patients with critical limb ischemia.

Authors:
Shuhei Tara Masaaki Miyamoto Gen Takagi Yoshimitsu Fukushima Sonoko Kirinoki-Ichikawa Hitoshi Takano Ikuyo Takagi Hiroshi Mizuno Masahiro Yasutake Shinichiro Kumita Kyoichi Mizuno

Ann Vasc Dis 2011 17;4(1):24-31. Epub 2011 Feb 17.

Division of Cardiology, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan.

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http://dx.doi.org/10.3400/avd.oa.10.01049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595769PMC
April 2013

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

Authors:
Yoko Narumi Byung-Joo Min Kenji Shimizu Itsuro Kazukawa Kiyoko Sameshima Koichi Nakamura Tomoki Kosho Yumie Rhee Yoon-Sok Chung Ok-Hwa Kim Yoshimitsu Fukushima Woong-Yang Park Gen Nishimura

Am J Med Genet A 2013 Mar 7;161A(3):518-26. Epub 2013 Feb 7.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35772DOI Listing
March 2013

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.

Authors:
Rie Kawamura Hideyuki Tanabe Takahito Wada Shinji Saitoh Yoshimitsu Fukushima Keiko Wakui

Chromosome Res 2012 Aug 17;20(6):659-72. Epub 2012 Jul 17.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan.

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http://dx.doi.org/10.1007/s10577-012-9300-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481056PMC
August 2012

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Authors:
Kumiko Yanagi Tadashi Kaname Keiko Wakui Ohiko Hashimoto Yoshimitsu Fukushima Kenji Naritomi

Autism Res Treat 2012 16;2012:724072. Epub 2012 Jul 16.

Department of Medical Genetics, Graduate School of Medicine, University of The Ryukyus, 207 Uehara, Nishihara, Okinawa 903-0215, Japan.

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http://dx.doi.org/10.1155/2012/724072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420546PMC
August 2012

[Genetic medicine in diabetes: current status and the future].

Authors:
Akihiro Sakurai Yoshimitsu Fukushima

Nihon Rinsho 2012 May;70 Suppl 3:801-5

Department of Medical Genetics, Shinshu University School of Medicine.

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May 2012

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Authors:
Mitsuo Motobayashi Akira Nishimura-Tadaki Yuji Inaba Tomoki Kosho Satoko Miyatake Taemi Niimi Takafumi Nishimura Keiko Wakui Yoshimitsu Fukushima Naomichi Matsumoto Kenichi Koike

Am J Med Genet A 2012 Apr 9;158A(4):861-8. Epub 2012 Mar 9.

Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35235DOI Listing
April 2012

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Authors:
Yoshinori Tsurusaki Nobuhiko Okamoto Hirofumi Ohashi Tomoki Kosho Yoko Imai Yumiko Hibi-Ko Tadashi Kaname Kenji Naritomi Hiroshi Kawame Keiko Wakui Yoshimitsu Fukushima Tomomi Homma Mitsuhiro Kato Yoko Hiraki Takanori Yamagata Shoji Yano Seiji Mizuno Satoru Sakazume Takuma Ishii Toshiro Nagai Masaaki Shiina Kazuhiro Ogata Tohru Ohta Norio Niikawa Satoko Miyatake Ippei Okada Takeshi Mizuguchi Hiroshi Doi Hirotomo Saitsu Noriko Miyake Naomichi Matsumoto

Nat Genet 2012 Mar 18;44(4):376-8. Epub 2012 Mar 18.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://www.nature.com/articles/ng.2219
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http://dx.doi.org/10.1038/ng.2219DOI Listing
March 2012

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Authors:
Yoko Narumi Masaaki Shiohara Keiko Wakui Asahito Hama Seiji Kojima Kentaro Yoshikawa Yoshiro Amano Tomoki Kosho Yoshimitsu Fukushima

Am J Med Genet A 2012 Feb 2;158A(2):412-6. Epub 2011 Dec 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34395DOI Listing
February 2012

Discordance between the morphological and physiological information of 64-slice MSCT coronary angiography and myocardial perfusion imaging in patients with intermediate to high probability of coronary artery disease.

Authors:
Tomonari Kiriyama Masahiro Toba Yoshimitsu Fukushima Hiromitsu Hayashi Hitoshi Takano Kyoichi Mizuno Shin-Ichiro Kumita

Circ J 2011 12;75(7):1670-7. Epub 2011 May 12.

Department of Radiology, Graduate School of Radiology, Nippon Medical School, Japan.

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http://dx.doi.org/10.1253/circj.cj-10-1123DOI Listing
January 2012

[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available].

Authors:
Yuka Takezawa Tomoki Kosho Kazuyuki Matsuda Chiaki Taira Yurika Ito Eiko Hidaka Mitsutoshi Sugano Yoko Narumi Asako Mizuuchi Hisanori Kobara Keiko Wakui Nobuo Okumura Yoshimitsu Fukushima Takayuki Honda

Rinsho Byori 2012 Jan;60(1):32-6

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January 2012

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?

Authors:
Tomoki Kosho Noriko Miyake Shuji Mizumoto Atsushi Hatamochi Yoshimitsu Fukushima Shuhei Yamada Kazuyuki Sugahara Naomichi Matsumoto

Hum Mutat 2011 Dec 30;32(12):1507-9. Epub 2011 Sep 30.

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http://doi.wiley.com/10.1002/humu.21586
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http://dx.doi.org/10.1002/humu.21586DOI Listing
December 2011

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.

Authors:
Yasushi Wakabayashi Kyohei Yamazaki Yoko Narumi Satoshi Fuseya Miki Horigome Keiko Wakui Yoshimitsu Fukushima Yoichi Matsubara Yoko Aoki Tomoki Kosho

Am J Med Genet A 2011 Oct 9;155A(10):2529-33. Epub 2011 Sep 9.

Department of Cardiovascular Internal Medicine, Prefectural Kiso Hospital, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34194DOI Listing
October 2011

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Authors:
Kenji Shimizu Nobuhiko Okamoto Noriko Miyake Katsuaki Taira Yumiko Sato Keiko Matsuda Noriko Akimaru Hirofumi Ohashi Keiko Wakui Yoshimitsu Fukushima Naomichi Matsumoto Tomoki Kosho

Am J Med Genet A 2011 Aug 8;155A(8):1949-58. Epub 2011 Jul 8.

Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34115DOI Listing
August 2011

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Authors:
Yoko Narumi Takashi Shiihara Hiroshi Yoshihashi Satoru Sakazume Marjo S van der Knaap Akira Nishimura-Tadaki Naomichi Matsumoto Yoshimitsu Fukushima

Clin Dysmorphol 2011 Jul;20(3):166-7

Division of Medical Genetics, Gunma Children's Medical Center, Shibukawa, Japan.

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http://dx.doi.org/10.1097/MCD.0b013e32834659a8DOI Listing
July 2011

Delayed-enhancement MRI of apical hypertrophic cardiomyopathy: assessment of the intramural distribution and comparison with clinical symptoms, ventricular arrhythmias, and cine MRI.

Authors:
Yasuo Amano Morimasa Takayama Yoshimitsu Fukushima Mitsunobu Kitamura Shinichiro Kumita

Acta Radiol 2011 Jul 7;52(6):613-8. Epub 2011 Apr 7.

Department of Radiology, Nippon Medical School, Tokyo, Japan.

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http://dx.doi.org/10.1258/ar.2011.100351DOI Listing
July 2011

A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expression.

Authors:
Yuji Ozeki Benjamin S Pickard Shin-ichi Kano Mary P Malloy Mariela Zeledon Daniel Q Sun Kumiko Fujii Keiko Wakui Yukihiko Shirayama Yoshimitsu Fukushima Hiroshi Kunugi Kenji Hashimoto Walter J Muir Douglas H Blackwood Akira Sawa

Neurosci Res 2011 Feb 16;69(2):154-60. Epub 2010 Oct 16.

Department of Psychiatry, Dokkyo Medical University, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S016801021002815
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http://dx.doi.org/10.1016/j.neures.2010.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049551PMC
February 2011

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Authors:
Shin Hayashi Issei Imoto Yoshinori Aizu Nobuhiko Okamoto Seiji Mizuno Kenji Kurosawa Nana Okamoto Shozo Honda Satoshi Araki Shuki Mizutani Hironao Numabe Shinji Saitoh Tomoki Kosho Yoshimitsu Fukushima Hiroshi Mitsubuchi Fumio Endo Yasutsugu Chinen Rika Kosaki Torayuki Okuyama Hirotaka Ohki Hiroshi Yoshihashi Masae Ono Fumio Takada Hiroaki Ono Mariko Yagi Hiroshi Matsumoto Yoshio Makita Akira Hata Johji Inazawa

J Hum Genet 2011 Feb 28;56(2):110-24. Epub 2010 Oct 28.

Department of Molecular Cytogenetics, School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2010.129DOI Listing
February 2011

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Authors:
Akira Nishimura-Tadaki Takahito Wada Gul Bano Karen Gough Janet Warner Tomoki Kosho Noriko Ando Haruka Hamanoue Hideya Sakakibara Gen Nishimura Yoshinori Tsurusaki Hiroshi Doi Noriko Miyake Keiko Wakui Hirotomo Saitsu Yoshimitsu Fukushima Fumiki Hirahara Naomichi Matsumoto

J Hum Genet 2011 Feb 9;56(2):156-60. Epub 2010 Dec 9.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2010.155DOI Listing
February 2011

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

Authors:
Yoko Narumi Tomoki Kosho Goro Tsuruta Masaaki Shiohara Ei Shimazaki Tetsuo Mori Ayako Shimizu Yasuhiko Igawa Shuji Nishizawa Kimiyo Takagi Rie Kawamura Keiko Wakui Yoshimitsu Fukushima

Am J Med Genet A 2010 Dec;152A(12):3143-7

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33720DOI Listing
December 2010

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk.

Authors:
Yoshiki Sekijima Toya Ohashi Satoshi Ohira Tomoki Kosho Yoshimitsu Fukushima

Clin Ther 2010 Nov;32(12):2048-52

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http://linkinghub.elsevier.com/retrieve/pii/S014929181000370
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http://dx.doi.org/10.1016/j.clinthera.2010.11.008DOI Listing
November 2010

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Authors:
Noriko Miyake Tomoki Kosho Shuji Mizumoto Tatsuya Furuichi Atsushi Hatamochi Yoji Nagashima Eiichi Arai Kazuo Takahashi Rie Kawamura Keiko Wakui Jun Takahashi Hiroyuki Kato Hiroshi Yasui Tadao Ishida Hirofumi Ohashi Gen Nishimura Masaaki Shiina Hirotomo Saitsu Yoshinori Tsurusaki Hiroshi Doi Yoshimitsu Fukushima Shiro Ikegawa Shuhei Yamada Kazuyuki Sugahara Naomichi Matsumoto

Hum Mutat 2010 Aug;31(8):966-74

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.

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http://dx.doi.org/10.1002/humu.21300DOI Listing
August 2010

Common variants in CASP3 confer susceptibility to Kawasaki disease.

Authors:
Yoshihiro Onouchi Kouichi Ozaki Jane C Buns Chisato Shimizu Hiromichi Hamada Takafumi Honda Masaru Terai Akihito Honda Takashi Takeuchi Shoichi Shibuta Tomohiro Suenaga Hiroyuki Suzuki Kouji Higashi Kumi Yasukawa Yoichi Suzuki Kumiko Sasago Yasushi Kemmotsu Shinichi Takatsuki Tsutomu Saji Tetsushi Yoshikawa Toshiro Nagai Kunihiro Hamamoto Fumio Kishi Kazunobu Ouchi Yoshitake Sato Jane W Newburger Annette L Baker Stanford T Shulman Anne H Rowley Mayumi Yashiro Yoshikazu Nakamura Keiko Wakui Yoshimitsu Fukushima Akihiro Fujino Tatsuhiko Tsunoda Tomisaku Kawasaki Akira Hata Yusuke Nakamura Toshihiro Tanaka

Hum Mol Genet 2010 Jul 27;19(14):2898-906. Epub 2010 Apr 27.

Laboratory for Cardiovascular diseases, Center for Genomic Medicine RIKEN, Yokohama 230-0045, Japan.

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http://dx.doi.org/10.1093/hmg/ddq176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893807PMC
July 2010

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Authors:
Tomoki Kosho Noriko Miyake Atsushi Hatamochi Jun Takahashi Hiroyuki Kato Teruyoshi Miyahara Yasuhiko Igawa Hiroshi Yasui Tadao Ishida Kurahito Ono Takashi Kosuda Akihiko Inoue Mohei Kohyama Tadashi Hattori Hirofumi Ohashi Gen Nishimura Rie Kawamura Keiko Wakui Yoshimitsu Fukushima Naomichi Matsumoto

Am J Med Genet A 2010 Jun;152A(6):1333-46

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.33498
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http://dx.doi.org/10.1002/ajmg.a.33498DOI Listing
June 2010

Cerebral hemorrhage in Fabry's disease.

Authors:
Katsuya Nakamura Yoshiki Sekijima Kimitoshi Nakamura Kiyoko Hattori Kiyoshiro Nagamatsu Yusaku Shimizu Takuji Yasude Masao Ushiyama Fumio Endo Yoshimitsu Fukushima Shu-ichi Ikeda

J Hum Genet 2010 Apr 19;55(4):259-61. Epub 2010 Mar 19.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2010.18DOI Listing
April 2010

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

Authors:
Masanori Yamazaki Tomoki Kosho Shigeo Kawachi Maiko Mikoshiba Jun Takahashi Rena Sano Kenji Oka Kunihiro Yoshida Tomoharu Watanabe Hiroyuki Kato Mitsuhisa Komatsu Rie Kawamura Keiko Wakui Per M Knappskog Helge Boman Yoshimitsu Fukushima

Am J Med Genet A 2010 Mar;152A(3):764-9

Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33315DOI Listing
March 2010

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

Authors:
Yukako Muramatsu Tomoki Kosho Miyuki Magota Taro Yokotsuka Masatoki Ito Ayako Yasuda Osamu Kito Chizuko Suzuki Yoshie Nagata Satoru Kawai Masanobu Ikoma Tameo Hatano Masato Nakayama Rie Kawamura Keiko Wakui Hiroko Morisaki Takayuki Morisaki Yoshimitsu Fukushima

Am J Med Genet A 2010 Feb;152A(2):417-21

Department of Neonatology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33263DOI Listing
February 2010

Unusual clinical and pathological presentation of a neuroendocrine tumor in a patient with multiple endocrine neoplasia type 1.

Authors:
Akihiro Sakurai Akiko Murakami Kenji Sano Shinya Uchino Yoshimitsu Fukushima

Endocr J 2009 30;56(7):887-95. Epub 2009 Jun 30.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1507/endocrj.k09e-126DOI Listing
January 2010

Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus.

Authors:
Koichiro Yamada Tomonori Tsukahara Kazuhisa Yoshino Katsuhiko Kojima Hideyuki Agawa Yuki Yamashita Yuji Amano Mariko Hatta Yasunori Matsuzaki Naoki Kurotori Keiko Wakui Yoshimitsu Fukushima Ryosuke Osada Tanri Shiozawa Kazuo Sakashita Kenichi Koike Satoru Kumaki Nobuyuki Tanaka Toshikazu Takeshita

Retrovirology 2009 Sep 2;6:79. Epub 2009 Sep 2.

Department of Microbiology and Immunology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.

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http://dx.doi.org/10.1186/1742-4690-6-79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742512PMC
September 2009

Familial neuroendocrine tumor syndromes: from genetics to clinical practice.

Authors:
Akihiro Sakurai Miyuki Katai Kiyoshi Hashizume Yoshimitsu Fukushima

Pituitary 2006 ;9(3):231-6

Department of Preventive Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://dx.doi.org/10.1007/s11102-006-0268-zDOI Listing
June 2009

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Authors:
Hideo Kuniba Koh-ichiro Yoshiura Tatsuro Kondoh Hirofumi Ohashi Kenji Kurosawa Hidefumi Tonoki Toshiro Nagai Nobuhiko Okamoto Mitsuhiro Kato Yoshimitsu Fukushima Tadashi Kaname Kenji Naritomi Tadashi Matsumoto Hiroyuki Moriuchi Tatsuya Kishino Akira Kinoshita Noriko Miyake Naomichi Matsumoto Norio Niikawa

J Hum Genet 2009 May 3;54(5):304-9. Epub 2009 Apr 3.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1038/jhg.2009.30DOI Listing
May 2009

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Authors:
Hirofumi Kojima Takahito Wada Hiroshi Seki Takeo Kubota Keiko Wakui Yoshimitsu Fukushima

Genet Test 2008 Dec;12(4):557-61

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://www.liebertpub.com/doi/10.1089/gte.2008.0048
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http://dx.doi.org/10.1089/gte.2008.0048DOI Listing
December 2008

Validation of fast-RAMLA in clinical PET.

Authors:
Hidetaka Sato Keiichi Cho Yoshimitsu Fukushima Masato Shiiba Kenta Hakozaki Tomonari Kiriyama Minoru Sakurai Kouji Kanaya Shin-Ichiro Kumita

Ann Nucl Med 2008 Dec 8;22(10):869-76. Epub 2009 Jan 8.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-0022, Japan.

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http://dx.doi.org/10.1007/s12149-008-0196-2DOI Listing
December 2008

[Basic information on medical genetics for internists (2)].

Authors:
Akihiro Sakurai Yoshimitsu Fukushima

Nihon Naika Gakkai Zasshi 2008 Dec;97(12):3093-100

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http://dx.doi.org/10.2169/naika.97.3093DOI Listing
December 2008

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Authors:
Shoji Saito Rie Kawamura Tomoki Kosho Takashi Shimizu Koki Aoyama Kenichi Koike Takahito Wada Naomichi Matsumoto Mitsuhiro Kato Keiko Wakui Yoshimitsu Fukushima

Am J Med Genet A 2008 Nov;146A(22):2891-7

Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.32556
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http://dx.doi.org/10.1002/ajmg.a.32556DOI Listing
November 2008

[Basic knowledge in medical genetics for internists (1)].

Authors:
Akihiro Sakurai Yoshimitsu Fukushima

Nihon Naika Gakkai Zasshi 2008 Nov;97(11):2832-7

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http://dx.doi.org/10.2169/naika.97.2832DOI Listing
November 2008

Facial angiofibroma as an initial manifestation in multiple endocrine neoplasia type 1.

Authors:
Akihiro Sakurai Kiyoshi Hashizume Yoshimitsu Fukushima

Intern Med 2008 2;47(11):1067-8. Epub 2008 Jun 2.

Division of Clinical and Molecular Genetics, Shinshu University Hospital, Matsumoto.

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http://dx.doi.org/10.2169/internalmedicine.47.1127DOI Listing
July 2008

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Authors:
Hideo Kuniba Daisuke Sato Koh-ichiro Yoshiura Hirofumi Ohashi Kenji Kurosawa Noriko Miyake Tasturo Kondoh Tadashi Matsumoto Toshiro Nagai Nobuhiko Okamoto Yoshimitsu Fukushima Kenji Naritomi Naomichi Matsumoto Norio Niikawa

Am J Med Genet A 2008 Jul;146A(14):1893-6

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32382DOI Listing
July 2008

Usefulness of 201TlCl/ 123I-BMIPP dual-myocardial SPECT for patients with non-ST segment elevation myocardial infarction.

Authors:
Yoshimitsu Fukushima Masahiro Toba Keiichi Ishihara Sunao Mizumura Tomohiko Seino Keiji Tanaka Kyoichi Mizuno Shin-Ichiro Kumita

Ann Nucl Med 2008 Jun 4;22(5):363-9. Epub 2008 Jul 4.

Department of Clinical Radiology, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan.

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http://dx.doi.org/10.1007/s12149-007-0126-8DOI Listing
June 2008

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.

Authors:
Tomoki Kosho Satoru Sakazume Hiroshi Kawame Keiko Wakui Takahito Wada Yumi Okoshi Makoto Mikawa Tomonobu Hasegawa Nobuo Matsuura Norio Niikawa Naomichi Matsumoto Yoshimitsu Fukushima

Clin Dysmorphol 2008 Jan;17(1):31-4

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1097/MCD.0b013e3282f17688DOI Listing
January 2008

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

Authors:
Yoshihiro Onouchi Tomohiko Gunji Jane C Burns Chisato Shimizu Jane W Newburger Mayumi Yashiro Yoshikazu Nakamura Hiroshi Yanagawa Keiko Wakui Yoshimitsu Fukushima Fumio Kishi Kunihiro Hamamoto Masaru Terai Yoshitake Sato Kazunobu Ouchi Tsutomu Saji Akiyoshi Nariai Yoichi Kaburagi Tetsushi Yoshikawa Kyoko Suzuki Takeo Tanaka Toshiro Nagai Hideo Cho Akihiro Fujino Akihiro Sekine Reiichiro Nakamichi Tatsuhiko Tsunoda Tomisaku Kawasaki Yusuke Nakamura Akira Hata

Nat Genet 2008 Jan 16;40(1):35-42. Epub 2007 Dec 16.

Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN, Yokohama, Kanagawa, 230-0045, Japan.

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http://dx.doi.org/10.1038/ng.2007.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876982PMC
January 2008

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Authors:
Tomoki Kosho Jun Takahashi Takashige Momose Akinori Nakamura Akihiro Sakurai Takahito Wada Kunihiro Yoshida Keiko Wakui Takefumi Suzuki Kazuo Kasuga Gen Nishimura Hiroyuki Kato Yoshimitsu Fukushima

Am J Med Genet A 2007 Nov;143A(21):2598-603

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.31983
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http://dx.doi.org/10.1002/ajmg.a.31983DOI Listing
November 2007

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Authors:
Tadashi Kaname Kumiko Yanagi Yasutsugu Chinen Yoshio Makita Nobuhiko Okamoto Hiroki Maehara Ichiro Owan Fuminori Kanaya Yoshiaki Kubota Yuichi Oike Toshiyuki Yamamoto Kenji Kurosawa Yoshimitsu Fukushima Axel Bohring John M Opitz Ko-Ichiro Yoshiura Norio Niikawa Kenji Naritomi

Am J Hum Genet 2007 Oct 27;81(4):835-41. Epub 2007 Aug 27.

Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan.

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http://dx.doi.org/10.1086/522014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227933PMC
October 2007

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

Authors:
Kunihiro Yoshida Takahito Wada Akihiro Sakurai Keiko Wakui Shu-Ichi Ikeda Yoshimitsu Fukushima

J Hum Genet 2007 5;52(8):675-9. Epub 2007 Jul 5.

Department of Neurology and Rheumatology, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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September 2007

Community engagement and informed consent in the International HapMap project.

Authors:
Charles Rotimi Mark Leppert Ichiro Matsuda Changqing Zeng Houcan Zhang Clement Adebamowo Ike Ajayi Toyin Aniagwu Missy Dixon Yoshimitsu Fukushima Darryl Macer Patricia Marshall Chibuzor Nkwodimmah Andy Peiffer Charmaine Royal Eiko Suda Hui Zhao Vivian Ota Wang Jean McEwen

Community Genet 2007 ;10(3):186-98

National Human Genome Center, Howard University, Washington, DC, USA.

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http://www.eubios.info/Papers/HapMapCE.pdf
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http://www.karger.com/doi/10.1159/000101761
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August 2007

Long-term follow-up of patients with multiple endocrine neoplasia type 1.

Authors:
Akihiro Sakurai Miyuki Katai Koh Yamashita Jun-Ichiro Mori Yoshimitsu Fukushima Kiyoshi Hashizume

Endocr J 2007 Apr 20;54(2):295-302. Epub 2007 Mar 20.

Department of Aging Medicine and Geriatrics, Shinshu University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1507/endocrj.k06-147DOI Listing
April 2007

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.

Authors:
Yoshihiro Onouchi Mayumi Tamari Atsushi Takahashi Tatsuhiko Tsunoda Mayumi Yashiro Yoshikazu Nakamura Hiroshi Yanagawa Keiko Wakui Yoshimitsu Fukushima Tomisaku Kawasaki Yusuke Nakamura Akira Hata

J Hum Genet 2007 8;52(2):179-90. Epub 2006 Dec 8.

Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.

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March 2007

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Authors:
Atsushi Watanabe Tomoki Kosho Takahiro Wada Noriyasu Sakai Mitsuo Fujimoto Yoshimitsu Fukushima Takashi Shimada

Circ J 2007 Feb;71(2):261-5

Division of Clinical Genetics, Nippon Medical School Main Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1253/circj.71.261DOI Listing
February 2007

Clinical applications of ECG-gated myocardial perfusion SPECT.

Authors:
Shin-ichiro Kumita Keiichi Cho Hidenobu Nakajo Masahiro Toba Yoshimitsu Fukushima Sunao Mizumura Tatsuo Kumazaki

J Nippon Med Sch 2006 Oct;73(5):248-57

Department of Clinical Radiology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1272/jnms.73.248DOI Listing
October 2006

[Beckwith-Wiedemann syndrome].

Authors:
Tomoki Kosho Yoshimitsu Fukushima

Nihon Rinsho 2006 Sep;Suppl 3:587-90

Department of Medical Genetics, Shinshu University School of Medicine.

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September 2006

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Authors:
Takako Ohata Kunihiro Yoshida Haruya Sakai Haruka Hamanoue Takeshi Mizuguchi Yusaku Shimizu Tomomi Okano Fumio Takada Kinya Ishikawa Hidehiro Mizusawa Ko-ichiro Yoshiura Yoshimitsu Fukushima Shu-ichi Ikeda Naomichi Matsumoto

J Hum Genet 2006 14;51(5):461-6. Epub 2006 Apr 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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August 2006

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Authors:
Takahito Wada Yoshimitsu Fukushima Shinji Saitoh

Am J Med Genet A 2006 Jul;140(14):1519-23

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31310DOI Listing
July 2006

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

Authors:
Takahito Wada Masae Sakakibara Yoshimitsu Fukushima Shinji Saitoh

Brain Dev 2006 Jun 10;28(5):322-5. Epub 2006 Jan 10.

Department of Medical Genetics, Shinshu University School of Medicine, Asahi 3-1-1, Matsumoto, 390-8621, Japan.

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http://dx.doi.org/10.1016/j.braindev.2005.09.005DOI Listing
June 2006

Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism.

Authors:
Miyuki Katai Akihiro Sakurai Shinya Uchino Kesami Minemura Kiyoshi Hashizume Yoshimitsu Fukushima

Jpn J Clin Oncol 2006 Jun 19;36(6):395-7. Epub 2006 May 19.

Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://dx.doi.org/10.1093/jjco/hyl023DOI Listing
June 2006

Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

Authors:
Shawkat Haider Rie Matsumoto Nobuyuki Kurosawa Keiko Wakui Yoshimitsu Fukushima Masaharu Isobe

J Hum Genet 2006 24;51(4):335-40. Epub 2006 Feb 24.

Laboratory of Molecular and Cellular Biology, Department of Materials and Biosystem Engineering, Faculty of Engineering, Toyama University, 3190 Gofuku, Toyama 930-8555, Japan.

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May 2006

Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment.

Authors:
Tomoki Kosho Tomohiko Nakamura Hiroshi Kawame Atsushi Baba Masanori Tamura Yoshimitsu Fukushima

Am J Med Genet A 2006 May;140(9):937-44

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31175DOI Listing
May 2006

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Authors:
Michihiko Aramaki Toru Udaka Rika Kosaki Yoshio Makita Nobuhiko Okamoto Hiroshi Yoshihashi Hirotaka Oki Kenji Nanao Nobuko Moriyama Shozo Oku Tomonobu Hasegawa Takao Takahashi Yoshimitsu Fukushima Hiroshi Kawame Kenjiro Kosaki

J Pediatr 2006 Mar;148(3):410-4

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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March 2006

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.

Authors:
Noriko Miyake Osamu Shimokawa Naoki Harada Nadia Sosonkina Aiko Okubo Hiroki Kawara Nobuhiko Okamoto Hirofumi Ohashi Kenji Kurosawa Kenji Naritomi Tadashi Kaname Toshiro Nagai Vorasuk Shotelersuk Jia-Woei Hou Yoshimitsu Fukushima Tatsuro Kondoh Tadashi Matsumoto Toshihiko Shinoki Mitsuhiro Kato Hidefumi Tonoki Masayo Nomura Ko-ichiro Yoshiura Tatsuya Kishino Tohru Ohta Norio Niikawa Naomichi Matsumoto

Am J Med Genet A 2006 Feb;140(3):291-3

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February 2006

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Authors:
Noriko Miyake Osamu Shimokawa Naoki Harada Nadia Sosonkina Aiko Okubo Hiroki Kawara Nobuhiko Okamoto Kenji Kurosawa Hiroshi Kawame Mie Iwakoshi Tomoki Kosho Yoshimitsu Fukushima Yoshio Makita Yuji Yokoyama Takanori Yamagata Mitsuhiro Kato Yoko Hiraki Masayo Nomura Ko-ichiro Yoshiura Tatsuya Kishino Tohru Ohta Takeshi Mizuguchi Norio Niikawa Naomichi Matsumoto

Am J Med Genet A 2006 Feb;140(3):205-11

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31098DOI Listing
February 2006

[Guidelines on genetic research and genetic testing].

Authors:
Yoshimitsu Fukushima

Nihon Rinsho 2005 Dec;63 Suppl 12:9-15

Department of Medical Genetics, Shinshu University School of Medicine.

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December 2005

[Guidelines on clinical research of gene therapy].

Authors:
Yoshimitsu Fukushima

Nihon Rinsho 2005 Dec;63 Suppl 12:475-6

Department of Medical Genetics,Shinshu University School of Medicine.

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December 2005