Publications by authors named "Kenji Kurosawa"

100Publications

Prenatal diagnosis of Fraser syndrome caused by novel variants of .

Hum Genome Var 2020 2;7:32. Epub 2020 Oct 2.

Department of Obstetrics and Gynecology, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-020-00119-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532185PMC
October 2020

Cantú syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9.

Pediatr Int 2020 Oct 14;62(10):1206-1208. Epub 2020 Sep 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/ped.14273DOI Listing
October 2020

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.

Dev Med Child Neurol 2020 Sep 7. Epub 2020 Sep 7.

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

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http://dx.doi.org/10.1111/dmcn.14666DOI Listing
September 2020

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.

Hum Genome Var 2020 7;7:22. Epub 2020 Aug 7.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-020-0109-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414221PMC
August 2020

A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.

Brain Dev 2020 Sep 25;42(8):603-606. Epub 2020 Jun 25.

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

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http://dx.doi.org/10.1016/j.braindev.2020.06.002DOI Listing
September 2020

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Brain Dev 2020 Oct 19;42(9):639-645. Epub 2020 Jun 19.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2020.05.009DOI Listing
October 2020

13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement.

Brain Dev 2020 Sep 4;42(8):581-586. Epub 2020 Jun 4.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.05.006DOI Listing
September 2020

Unique skeletal manifestations in patients with Primrose syndrome.

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103967DOI Listing
August 2020

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.

Congenit Anom (Kyoto) 2020 Sep 16;60(5):153-155. Epub 2020 Apr 16.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12371DOI Listing
September 2020

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Brain Dev 2020 Mar 16;42(3):289-292. Epub 2020 Jan 16.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.12.008DOI Listing
March 2020

An efficient genetic test flow for multiple congenital anomalies and intellectual disability.

Pediatr Int 2020 May;62(5):556-561

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/ped.14159DOI Listing
May 2020

Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.

Pediatr Int 2019 Nov 13;61(11):1169-1171. Epub 2019 Nov 13.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1111/ped.13962DOI Listing
November 2019

Novel variants in two patients with X-linked intellectual disability.

Hum Genome Var 2019 21;6:49. Epub 2019 Oct 21.

3Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-019-0081-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804943PMC
October 2019

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing .

Hum Genome Var 2019 8;6:36. Epub 2019 Aug 8.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-019-0067-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804687PMC
August 2019

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.

Congenit Anom (Kyoto) 2020 Jul 21;60(4):128-130. Epub 2019 Oct 21.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12356DOI Listing
July 2020

Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome.

Congenit Anom (Kyoto) 2020 May 9;60(3):97-99. Epub 2019 Aug 9.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12352DOI Listing
May 2020

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.

Congenit Anom (Kyoto) 2020 May 29;60(3):91-93. Epub 2019 Jul 29.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12350DOI Listing
May 2020

Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability.

Congenit Anom (Kyoto) 2019 Jun 24. Epub 2019 Jun 24.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12347DOI Listing
June 2019

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.

Congenit Anom (Kyoto) 2019 Jun 17. Epub 2019 Jun 17.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12346DOI Listing
June 2019

Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia.

Pediatr Blood Cancer 2019 09 3;66(9):e27871. Epub 2019 Jun 3.

Division of Hematology/Oncology, Kanagawa Children's Medical Center, Kanagawa, Japan.

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http://dx.doi.org/10.1002/pbc.27871DOI Listing
September 2019

Discordant phenotype caused by mutation in siblings with .

Hum Genome Var 2019 26;6:20. Epub 2019 Apr 26.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-019-0051-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486584PMC
April 2019

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Clin Genet 2019 06 11;95(6):713-717. Epub 2019 Apr 11.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cge.13530DOI Listing
June 2019

Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon.

Brain Dev 2019 Jun 20;41(6):538-541. Epub 2019 Feb 20.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.02.007DOI Listing
June 2019

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Eur J Med Genet 2020 Jan 30;63(1):103610. Epub 2018 Dec 30.

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183015
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http://dx.doi.org/10.1016/j.ejmg.2018.12.015DOI Listing
January 2020

A novel intragenic deletion in in a Japanese patient with Dandy-Walker malformation.

Hum Genome Var 2019 5;6. Epub 2018 Dec 5.

8Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, 187-8551 Japan.

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http://dx.doi.org/10.1038/s41439-018-0032-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281661PMC
December 2018

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Mol Genet Metab Rep 2018 Dec 13;17:31-37. Epub 2018 Sep 13.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183006
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http://dx.doi.org/10.1016/j.ymgmr.2018.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140619PMC
December 2018

A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome.

Clin Case Rep 2018 Aug 13;6(8):1474-1477. Epub 2018 Jun 13.

Department of Neurology Kanagawa Children's Medical Center Yokohama Kanagawa Japan.

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http://dx.doi.org/10.1002/ccr3.1638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099018PMC
August 2018

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

J Hum Genet 2018 Nov 14;63(11):1185-1188. Epub 2018 Aug 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-018-0499-7DOI Listing
November 2018

Nonsyndromic intellectual disability with novel heterozygous mutation and epilepsy.

Hum Genome Var 2018 20;5:20. Epub 2018 Jul 20.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-018-0019-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054605PMC
July 2018

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Congenit Anom (Kyoto) 2019 Mar 4;59(2):51-52. Epub 2018 Jul 4.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12292DOI Listing
March 2019

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

Novel mutation in a fetus with early prenatal onset of schizencephaly.

Hum Genome Var 2018 24;5. Epub 2018 Apr 24.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/s41439-018-0005-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938052PMC
April 2018

Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2018 07 7;176(7):1680-1682. Epub 2018 May 7.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38664DOI Listing
July 2018

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

Hum Genome Var 2018 29;5:18011. Epub 2018 Mar 29.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/hgv.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874396PMC
March 2018

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Congenit Anom (Kyoto) 2018 Nov 25;58(6):191-193. Epub 2018 Mar 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cga.12277
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http://dx.doi.org/10.1111/cga.12277DOI Listing
November 2018

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.

J Med Genet 2018 08 17;55(8):567-570. Epub 2018 Feb 17.

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

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http://dx.doi.org/10.1136/jmedgenet-2017-104986DOI Listing
August 2018

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Congenit Anom (Kyoto) 2018 Nov 13;58(6):188-190. Epub 2018 Feb 13.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12273DOI Listing
November 2018

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

Eur J Med Genet 2018 May 6;61(5):243-247. Epub 2017 Dec 6.

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

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http://dx.doi.org/10.1016/j.ejmg.2017.12.004DOI Listing
May 2018

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

Congenit Anom (Kyoto) 2018 Jul 16;58(4):145-146. Epub 2017 Nov 16.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12258DOI Listing
July 2018

Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome.

BMJ Case Rep 2017 Sep 23;2017. Epub 2017 Sep 23.

Department of Cariovascular Medicine, Toho University Ohashi Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1136/bcr-2017-220786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747760PMC
September 2017

Differentiation of black writing ink on paper using luminescence lifetime by time-resolved luminescence spectroscopy.

Forensic Sci Int 2017 Oct 11;279:281-287. Epub 2017 Sep 11.

National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa-shi, Chiba 277-0882, Japan.

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http://dx.doi.org/10.1016/j.forsciint.2017.09.003DOI Listing
October 2017

deletion syndrome: clinical features and epigenetic delineation.

J Med Genet 2017 12 28;54(12):836-842. Epub 2017 Aug 28.

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

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http://dx.doi.org/10.1136/jmedgenet-2017-104854DOI Listing
December 2017

Haploinsufficiency of associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Mol Genet Genomic Med 2017 Jul 22;5(4):429-437. Epub 2017 May 22.

Division of Medical GeneticsKanagawa Children's Medical CenterYokohamaJapan.

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http://dx.doi.org/10.1002/mgg3.289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511803PMC
July 2017

Visualization of Aged Fingerprints with an Ultraviolet Laser.

J Forensic Sci 2018 Mar 10;63(2):556-562. Epub 2017 Jul 10.

Physics Section, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba, 277-0882, Japan.

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http://dx.doi.org/10.1111/1556-4029.13588DOI Listing
March 2018

Expansion of the phenotype of Kosaki overgrowth syndrome.

Am J Med Genet A 2017 Sep 22;173(9):2422-2427. Epub 2017 Jun 22.

Genetic Medicine, Community Regional Medical Center, University of California San Francisco/Fresno, Fresno, California.

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http://dx.doi.org/10.1002/ajmg.a.38310DOI Listing
September 2017

A novel mutation causes X-linked intellectual disability type Nascimento.

Hum Genome Var 2017 8;4:17019. Epub 2017 Jun 8.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1038/hgv.2017.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939PMC
June 2017

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Am J Med Genet A 2017 Aug 9;173(8):2201-2209. Epub 2017 Jun 9.

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38313DOI Listing
August 2017

Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.

Clin Dysmorphol 2017 Oct;26(4):224-227

aDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo bDepartment of Pediatrics, Teikyo University School of Medicine, Tokyo cDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto dDivision of Medial Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan.

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http://dx.doi.org/10.1097/MCD.0000000000000185DOI Listing
October 2017

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

J Neurol Sci 2017 May 1;376:7-12. Epub 2017 Mar 1.

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

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http://dx.doi.org/10.1016/j.jns.2017.02.065DOI Listing
May 2017

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.

Congenit Anom (Kyoto) 2018 Jan 2;58(1):33-35. Epub 2017 May 2.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12216DOI Listing
January 2018

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Mol Genet Metab 2017 03 7;120(3):173-179. Epub 2017 Jan 7.

Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.01.002DOI Listing
March 2017

Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.

Congenit Anom (Kyoto) 2017 Jul 30;57(4):118-121. Epub 2017 Mar 30.

The Department of Pediatric rehabilitation, Hiroshima Prefectural Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1111/cga.12207DOI Listing
July 2017

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

Horm Res Paediatr 2017 21;87(4):271-276. Epub 2016 Sep 21.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1159/000449222DOI Listing
March 2018

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Brain Dev 2016 Oct 4;38(9):871-4. Epub 2016 Apr 4.

Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.03.008DOI Listing
October 2016

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

Brain Dev 2016 Jun 22;38(6):581-4. Epub 2015 Dec 22.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.

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http://dx.doi.org/10.1016/j.braindev.2015.12.002DOI Listing
June 2016

A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18.

Pathol Int 2016 Jan 16;66(1):15-22. Epub 2015 Dec 16.

Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1111/pin.12371DOI Listing
January 2016

Portable hyperspectral imager with continuous wave green laser for identification and detection of untreated latent fingerprints on walls.

Forensic Sci Int 2015 Sep 8;254:100-5. Epub 2015 Jul 8.

Waseda Research Institute for Science and Engineering, Waseda University, Shinjuku, Tokyo 169-8555, Japan; Department of Electrical Engineering and Bioscience, Waseda University, Shinjuku, Tokyo 169-8555, Japan.

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http://dx.doi.org/10.1016/j.forsciint.2015.06.031DOI Listing
September 2015

Fetal outcome of trisomy 18 diagnosed after 22 weeks of gestation: Experience of 123 cases at a single perinatal center.

Congenit Anom (Kyoto) 2016 Jan;56(1):35-40

Department of Integrated Women's Health, St. Luke's International Hospital, Chuo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12118DOI Listing
January 2016

Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case.

J Nippon Med Sch 2015 ;82(2):74-5

Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital.

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http://dx.doi.org/10.1272/jnms.82.74DOI Listing
January 2016

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Am J Med Genet A 2015 Sep 25;167A(9):2223-5. Epub 2015 Apr 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37135DOI Listing
September 2015

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Am J Med Genet A 2015 Jun 21;167(6):1349-53. Epub 2015 Apr 21.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37002DOI Listing
June 2015

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).

Eur J Hum Genet 2015 Nov 18;23(11):1488-98. Epub 2015 Feb 18.

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

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http://dx.doi.org/10.1038/ejhg.2015.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613461PMC
November 2015

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Am J Med Genet A 2015 Feb 8;167A(2):389-93. Epub 2014 Dec 8.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36813DOI Listing
February 2015

Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.

Pediatr Neurol 2014 Dec 27;51(6):781-9. Epub 2014 Aug 27.

Division of Radiology, Kanagawa Children's Medical Center, Kanagawa, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.011DOI Listing
December 2014

Subclavian artery aneurysm in a patient with vascular Ehlers-Danlos syndrome.

Asian Cardiovasc Thorac Ann 2016 Feb 6;24(2):187-9. Epub 2014 Oct 6.

Department of Cardiovascular Surgery, Yokohama City University Hospital, Yokohama, Japan.

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http://dx.doi.org/10.1177/0218492314553993DOI Listing
February 2016

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Am J Med Genet A 2014 Nov 6;164A(11):2873-8. Epub 2014 Aug 6.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36704DOI Listing
November 2014

West syndrome in a patient with Schinzel-Giedion syndrome.

J Child Neurol 2015 Jun 14;30(7):932-6. Epub 2014 Jul 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

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http://dx.doi.org/10.1177/0883073814541468DOI Listing
June 2015

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.

J Hum Genet 2014 Jul 5;59(7):408-10. Epub 2014 Jun 5.

1] Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan [2] Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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http://dx.doi.org/10.1038/jhg.2014.45DOI Listing
July 2014

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Am J Med Genet A 2014 Aug 6;164A(8):2104-8. Epub 2014 May 6.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.36604
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http://dx.doi.org/10.1002/ajmg.a.36604DOI Listing
August 2014

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Am J Med Genet A 2014 Jun 25;164A(6):1550-4. Epub 2014 Mar 25.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36477DOI Listing
June 2014

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.

J Neurol 2014 Apr 16;261(4):752-8. Epub 2014 Feb 16.

National Institute of Neuroscience, National Center for Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502, Japan.

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http://dx.doi.org/10.1007/s00415-014-7263-5DOI Listing
April 2014

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.

Am J Med Genet A 2014 Jan 20;164A(1):264-6. Epub 2013 Nov 20.

Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36185DOI Listing
January 2014

Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy.

J Child Neurol 2014 Feb 20;29(2):283-8. Epub 2013 Sep 20.

1Department of Pediatrics, Institute of Health Bioscience, The University of Tokushima Graduate School, Tokushima, Japan.

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http://dx.doi.org/10.1177/0883073813499635DOI Listing
February 2014

Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.

Eur J Pediatr 2014 Nov 11;173(11):1541-4. Epub 2013 Aug 11.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.

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http://dx.doi.org/10.1007/s00431-013-2099-zDOI Listing
November 2014

Pure duplication of 19p13.3.

Am J Med Genet A 2013 Sep 29;161A(9):2300-4. Epub 2013 Jul 29.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36041DOI Listing
September 2013

Successful endovascular treatment of a ruptured superior mesenteric artery in a patient with Ehlers‒Danlos syndrome.

Ann Vasc Surg 2013 Oct 26;27(7):975.e1-5. Epub 2013 Jul 26.

Cardiovascular Center, Yokohama City University Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1016/j.avsg.2013.01.004DOI Listing
October 2013