Nobuhiko Okamoto

Nobuhiko Okamoto

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Nobuhiko Okamoto

Publications by authors named "Nobuhiko Okamoto"

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Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Congenit Anom (Kyoto) 2019 Sep 15;59(5):169-173. Epub 2018 Nov 15.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12318DOI Listing
September 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
September 2019

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Am J Med Genet A 2019 Jul 29;179(7):1315-1318. Epub 2019 Apr 29.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61159DOI Listing
July 2019

Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.

Endocr J 2019 Jul 10. Epub 2019 Jul 10.

Department of Gastroenterology and Endocrinology, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ18-0564DOI 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
June 2019

Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.

Authors:
Nobuhiko Okamoto

Am J Med Genet A 2019 May 21;179(5):822-826. Epub 2019 Feb 21.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61079DOI Listing
May 2019

Three Japanese patients with 3p13 microdeletions involving FOXP1.

Brain Dev 2019 Mar 10;41(3):257-262. Epub 2018 Nov 10.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183042
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http://dx.doi.org/10.1016/j.braindev.2018.10.016DOI Listing
March 2019

A novel mutation in the GATAD2B gene associated with severe intellectual disability.

Brain Dev 2019 Mar 25;41(3):276-279. Epub 2018 Oct 25.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.10.003DOI Listing
March 2019

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 Feb 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 2019

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype.

Congenit Anom (Kyoto) 2019 Feb 13. Epub 2019 Feb 13.

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

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http://dx.doi.org/10.1111/cga.12327DOI Listing
February 2019

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation.

Congenit Anom (Kyoto) 2019 Feb 25. Epub 2019 Feb 25.

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

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http://dx.doi.org/10.1111/cga.12330DOI Listing
February 2019

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic west syndrome.

Congenit Anom (Kyoto) 2019 Jan 2. Epub 2019 Jan 2.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12322DOI Listing
January 2019

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

J Hum Genet 2018 Sep 15;63(9):957-963. Epub 2018 Jun 15.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/s10038-018-0482-3DOI Listing
September 2018

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.

Nat Med 2018 06 21;24(6):802-813. Epub 2018 May 21.

Department of Pharmacology, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.1038/s41591-018-0018-6DOI Listing
June 2018

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Congenit Anom (Kyoto) 2018 May 29;58(3):102-104. Epub 2017 Aug 29.

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1111/cga.12240DOI Listing
May 2018

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Congenit Anom (Kyoto) 2018 May 6;58(3):105-107. Epub 2017 Oct 6.

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

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http://dx.doi.org/10.1111/cga.12242DOI Listing
May 2018

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Brain Dev 2018 May 5;40(5):406-409. Epub 2018 Mar 5.

Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.12.013DOI Listing
May 2018

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.

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

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http://dx.doi.org/10.1038/s10038-017-0404-9DOI Listing
April 2018

Primary microcephaly caused by novel compound heterozygous mutations in .

Hum Genome Var 2018 5;5:18015. Epub 2018 Apr 5.

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

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http://dx.doi.org/10.1038/hgv.2018.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885039PMC
April 2018

Cover Image, Volume 176A, Number 3, March 2018.

Am J Med Genet A 2018 03;176(3)

Department of Neonatology, NHO Okayama Medical Center, Okayama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38642DOI Listing
March 2018

Infantile spasms related to a 5q31.2-q31.3 microdeletion including .

Hum Genome Var 2018 29;5:18007. Epub 2018 Mar 29.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2018.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397PMC
March 2018

Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.

Epileptic Disord 2018 Feb;20(1):42-50

Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka.

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http://dx.doi.org/10.1684/epd.2018.0956DOI Listing
February 2018

A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing.

Case Rep Ophthalmol 2018 Jan-Apr;9(1):102-107. Epub 2018 Feb 1.

Department of Ophthalmology, Osaka Medical College, Takatsuki-City, Japan.

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http://dx.doi.org/10.1159/000485964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892312PMC
February 2018

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.

Congenit Anom (Kyoto) 2018 Jan 17;58(1):36-38. Epub 2017 May 17.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12221DOI Listing
January 2018

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Eur J Med Genet 2017 Dec 9;60(12):650-654. Epub 2017 Sep 9.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.017DOI Listing
December 2017

Neurological manifestations of 2q31 microdeletion syndrome.

Congenit Anom (Kyoto) 2017 Nov 24;57(6):197-200. Epub 2017 Mar 24.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12212DOI Listing
November 2017

Patient with a novel purine-rich element binding protein A mutation.

Congenit Anom (Kyoto) 2017 Nov 24;57(6):201-204. Epub 2017 Mar 24.

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/cga.12214DOI Listing
November 2017

Siblings with optic neuropathy and RTN4IP1 mutation.

J Hum Genet 2017 Oct 22;62(10):927-929. Epub 2017 Jun 22.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2017.68DOI Listing
October 2017

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

Am J Med Genet A 2017 Oct 4;173(10):2690-2696. Epub 2017 Aug 4.

National Institute of Genetics, Department of Molecular Genetics, Division of Centrosome Biology, Mishima, Shizuoka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38391DOI Listing
October 2017

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

J Hum Genet 2017 Sep 18;62(9):861-863. Epub 2017 May 18.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/jhg.2017.53DOI Listing
September 2017

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Am J Med Genet A 2017 Sep 26;173(9):2346-2352. Epub 2017 Jun 26.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38337DOI Listing
September 2017

Disturbed chromosome segregation and multipolar spindle formation in a patient with mutation.

Mol Genet Genomic Med 2017 Sep 12;5(5):585-591. Epub 2017 Jul 12.

Department of Human GeneticsYokohama City University Graduate School of MedicineYokohamaJapan.

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http://dx.doi.org/10.1002/mgg3.303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606869PMC
September 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

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient.

Congenit Anom (Kyoto) 2017 Jul 22;57(4):109-113. Epub 2017 Mar 22.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12205DOI Listing
July 2017

A 15q14 microdeletion involving identified in a patient with autism spectrum disorder.

Hum Genome Var 2017 20;4:17029. Epub 2017 Jul 20.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517666PMC
July 2017

Novel MCA/ID syndrome with ASH1L mutation.

Am J Med Genet A 2017 Jun 10;173(6):1644-1648. Epub 2017 Apr 10.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38193DOI Listing
June 2017

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

Am J Med Genet A 2017 May 29;173(5):1264-1269. Epub 2017 Mar 29.

Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38168DOI Listing
May 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases.

Clin Pediatr Endocrinol 2017 22;26(2):89-98. Epub 2017 Apr 22.

Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.26.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402310PMC
April 2017

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

Brain Dev 2017 Feb 23;39(2):177-181. Epub 2016 Sep 23.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.08.008DOI Listing
February 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Genome-first approach diagnosed Cabezas syndrome via novel mutation detection.

Hum Genome Var 2017 19;4:16045. Epub 2017 Jan 19.

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

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http://dx.doi.org/10.1038/hgv.2016.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243919PMC
January 2017

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Am J Med Genet A 2016 10 5;170(10):2662-70. Epub 2016 Jun 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37778DOI Listing
October 2016

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

J Hum Genet 2016 Sep 26;61(9):835-8. Epub 2016 May 26.

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

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http://dx.doi.org/10.1038/jhg.2016.54DOI Listing
September 2016

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.

Hum Genome Var 2016 15;3:16029. Epub 2016 Sep 15.

Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.

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http://dx.doi.org/10.1038/hgv.2016.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023786PMC
September 2016

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Brain Dev 2016 Aug 29;38(7):678-84. Epub 2016 Jan 29.

Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.01.003DOI Listing
August 2016

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Am J Med Genet A 2016 07 13;170(7):1863-7. Epub 2016 Apr 13.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37653DOI Listing
July 2016

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

J Hum Genet 2016 May 28;61(5):381-7. Epub 2016 Jan 28.

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

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http://dx.doi.org/10.1038/jhg.2016.1DOI Listing
May 2016

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

Am J Med Genet A 2016 May 11;170A(5):1339-42. Epub 2016 Feb 11.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37588DOI Listing
May 2016

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

Am J Med Genet A 2016 Apr 28;170A(4):852-5. Epub 2015 Dec 28.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.37526
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http://dx.doi.org/10.1002/ajmg.a.37526DOI Listing
April 2016

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

Am J Med Genet A 2016 Apr 6;170A(4):1076-9. Epub 2016 Jan 6.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37545DOI Listing
April 2016