Tomoki Kosho

Tomoki Kosho

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Tomoki Kosho

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Genes (Basel) 2019 12 29;11(1). Epub 2019 Dec 29.

Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan.

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http://dx.doi.org/10.3390/genes11010043DOI Listing
December 2019

Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report.

JBJS Case Connect 2018 Apr-Jun;8(2):e22

Departments of Orthopaedic Surgery (D.K., Y.N., T.S., and H.K.) and Medical Genetics (T.K.) and Third Department of Medicine (A.N.), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.2106/JBJS.CC.17.00190DOI Listing
November 2019

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.

Spine (Phila Pa 1976) 2019 Nov 22. Epub 2019 Nov 22.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Nagano, Japan.

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http://dx.doi.org/10.1097/BRS.0000000000003347DOI Listing
November 2019

Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11.

Clin J Gastroenterol 2019 Oct 19;12(5):429-433. Epub 2019 Mar 19.

Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Utsunomiya, Tochigi, Japan.

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http://dx.doi.org/10.1007/s12328-019-00964-0DOI Listing
October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Familial Aortic Dissection in a Young Adult Caused by MYH11 Gene Mutation.

Ann Thorac Surg 2019 07 15;108(1):e49. Epub 2019 Mar 15.

Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan.

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http://dx.doi.org/10.1016/j.athoracsur.2019.02.015DOI Listing
July 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

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

Am J Med Genet A 2019 06 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

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.

J Neurol Sci 2019 04 1;399:214-216. Epub 2019 Mar 1.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto 390-8621, Japan.

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http://dx.doi.org/10.1016/j.jns.2019.02.040DOI Listing
April 2019

Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).

Am J Med Genet A 2018 11 8;176(11):2331-2341. Epub 2018 Sep 8.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40507DOI Listing
November 2018

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.

Am J Med Genet A 2018 09 27;176(9):1941-1949. Epub 2018 Aug 27.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40350DOI Listing
September 2018

Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.

Pediatr Int 2018 Apr 4;60(4):378-380. Epub 2018 Mar 4.

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

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http://dx.doi.org/10.1111/ped.13508DOI Listing
April 2018

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Brain Dev 2017 Oct 24;39(9):804-807. Epub 2017 May 24.

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

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http://dx.doi.org/10.1016/j.braindev.2017.05.003DOI Listing
October 2017

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

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.

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

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Clin Biochem 2017 Aug 24;50(12):670-677. Epub 2017 Feb 24.

Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science Hokkaido University, Sapporo 001-0021, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2017.02.018DOI Listing
August 2017

Hypohidrotic ectodermal dysplasia: A report of two cases.

J Dermatol 2017 Apr 6;44(4):479-481. Epub 2016 Jun 6.

Departments of Dermatology, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1111/1346-8138.13479DOI Listing
April 2017

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Pharmaceuticals (Basel) 2017 Mar 27;10(2). Epub 2017 Mar 27.

Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan.

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http://dx.doi.org/10.3390/ph10020034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490391PMC
March 2017

Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation.

J Surg Case Rep 2017 Jan 2;2017(1). Epub 2017 Jan 2.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1093/jscr/rjw216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204134PMC
January 2017

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Am J Med Genet A 2016 11 26;170(11):2889-2894. Epub 2016 Aug 26.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37826DOI Listing
November 2016

Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.

Circ J 2016 Oct 13;80(11):2369-2375. Epub 2016 Oct 13.

Department of Pediatrics, Shinshu University School of Medicine.

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http://dx.doi.org/10.1253/circj.CJ-16-0739DOI Listing
October 2016

Perspectives on the care and advances in the management of children with trisomy 13 and 18.

Am J Med Genet C Semin Med Genet 2016 09;172(3):249-50

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http://dx.doi.org/10.1002/ajmg.c.31527DOI Listing
September 2016

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

Acta Derm Venereol 2016 08;96(6):830-1

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

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http://dx.doi.org/10.2340/00015555-2390DOI Listing
August 2016

Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.

J Dermatol 2016 Jul 12;43(7):832-3. Epub 2016 Feb 12.

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

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http://dx.doi.org/10.1111/1346-8138.13273DOI Listing
July 2016

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Am J Med Genet A 2016 Apr 8;170A(4):847-9. Epub 2016 Mar 8.

Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37610DOI Listing
April 2016

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Authors:
Tomoki Kosho

Pediatr Int 2016 Feb;58(2):88-99

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

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http://dx.doi.org/10.1111/ped.12878DOI Listing
February 2016

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Am J Med Genet A 2015 Oct 22;167A(10):2435-9. Epub 2015 Jun 22.

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

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http://dx.doi.org/10.1002/ajmg.a.37202DOI Listing
October 2015

Aggressive change of a carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV.

Interv Neuroradiol 2015 Jun 26;21(3):341-5. Epub 2015 May 26.

Department of Dermatology, School of Medicine, Dokkyo Medical University, Tochigi, Japan.

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http://dx.doi.org/10.1177/1591019915582380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757267PMC
June 2015

A case of Kindler syndrome with severe esophageal stenosis.

Int J Dermatol 2015 Apr 29;54(4):e106-8. Epub 2014 Dec 29.

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

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http://dx.doi.org/10.1111/ijd.12715DOI Listing
April 2015

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

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

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

J Hum Genet 2015 Feb 27;60(2):91-5. Epub 2014 Nov 27.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/jhg.2014.100DOI Listing
February 2015

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

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

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):262-75. Epub 2014 Aug 28.

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http://doi.wiley.com/10.1002/ajmg.c.31407
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http://dx.doi.org/10.1002/ajmg.c.31407DOI Listing
September 2014

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.

Adv Exp Med Biol 2014 ;802:145-59

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

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http://dx.doi.org/10.1007/978-94-007-7893-1_10DOI Listing
May 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.

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.

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

Surgical intervention for esophageal atresia in patients with trisomy 18.

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

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

J Dermatol Sci 2013 Nov 28;72(2):193-5. Epub 2013 Jun 28.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

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http://dx.doi.org/10.1016/j.jdermsci.2013.06.008DOI Listing
November 2013

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

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

Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group.

Am J Med Genet A 2013 Jul 29;161A(7):1531-42. Epub 2013 May 29.

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

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http://dx.doi.org/10.1002/ajmg.a.35990DOI Listing
July 2013

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

J Hum Genet 2013 Jul 6;58(7):455-60. Epub 2013 Jun 6.

Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.

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http://dx.doi.org/10.1038/jhg.2013.56DOI Listing
July 2013

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

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

Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case.

Surg Today 2011 May 1;41(5):733-6. Epub 2011 May 1.

Department of Digestive Surgery, Matsue Red Cross Hospital, 200 Horomachi, Matsue, Shimane, 693-8501, Japan.

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http://link.springer.com/10.1007/s00595-010-4316-y
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http://dx.doi.org/10.1007/s00595-010-4316-yDOI Listing
May 2011

[Ehlers-Danlos syndrome with a frequent intestinal perforation].

Nihon Naika Gakkai Zasshi 2009 Apr;98(4):852-4

Department of Internal Medicine, Tohoku Kosai Hospital, Tohoku.

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http://dx.doi.org/10.2169/naika.98.852DOI Listing
April 2009

Care of children with trisomy 18 in Japan.

Authors:
Tomoki Kosho

Am J Med Genet A 2008 Jun;146A(11):1369-71

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

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http://dx.doi.org/10.1002/ajmg.a.32355DOI Listing
June 2008

Brothers with genu recurvatum.

Knee 2007 Dec 27;14(6):500-1. Epub 2007 Sep 27.

Department of Applied Physical Therapy, Shinshu University School of Health Science, Matsumoto, Nagano, Japan.

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http://dx.doi.org/10.1016/j.knee.2007.08.005DOI Listing
December 2007

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

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

[Beckwith-Wiedemann syndrome].

Nihon Rinsho 2006 Sep;Suppl 3:587-90

Department of Medical Genetics, Shinshu University School of Medicine.

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September 2006

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

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