Publications by authors named "Yoshinori Tsurusaki"

100Publications

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

Pediatr Int 2020 Sep 14. Epub 2020 Sep 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.14273DOI 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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 07 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia.

CEN Case Rep 2016 Nov 21;5(2):137-140. Epub 2016 Jan 21.

Department of Pediatrics, Kyorin University School of Medicine, 6-20-2, Shinkawa, Mitaka, Tokyo, 181-8611, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13730-015-0210-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413751PMC
November 2016

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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Am J Med Genet A 2016 08 5;170(8):1967-73. Epub 2016 Jun 5.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870868PMC
August 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Epilepsia 2016 Jan 27;57(1):e18-23. Epub 2015 Nov 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13257DOI Listing
January 2016

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

Am J Med Genet A 2016 Mar 21;170(3):717-24. Epub 2015 Nov 21.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37478DOI Listing
March 2016

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789813PMC
March 2016

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

J Hum Genet 2015 Oct 25;60(10):631-5. Epub 2015 Jun 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.72DOI Listing
October 2015

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

J Neurol Neurosurg Psychiatry 2016 Feb 20;87(2):212-6. Epub 2015 May 20.

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

View Article

Download full-text PDF

Source
http://jnnp.bmj.com/content/87/2/212.full.pdf
Web Search
http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-310084
Publisher Site
http://dx.doi.org/10.1136/jnnp-2014-310084DOI Listing
February 2016

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.

Brain Dev 2016 Jan 14;38(1):142-4. Epub 2015 May 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2015.04.012DOI Listing
January 2016

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Pediatr Int 2015 Apr;57(2):324-6

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.12613DOI Listing
April 2015

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

J Hum Genet 2015 May 19;60(5):277-9. Epub 2015 Feb 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.13DOI Listing
May 2015

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.

Brain Tumor Pathol 2015 Jul 29;32(3):216-20. Epub 2015 Jan 29.

Department of Neurosurgery, Kobe City Medical Center General Hospital, Kobe, Japan,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10014-015-0213-9DOI Listing
July 2015

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

J Hum Genet 2015 Feb 4;60(2):97-101. Epub 2014 Dec 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.103DOI Listing
February 2015

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Brain Dev 2015 Jun 27;37(6):638-42. Epub 2014 Oct 27.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2014.10.002DOI Listing
June 2015

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

J Hum Genet 2014 Dec 6;59(12):691-3. Epub 2014 Nov 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.95DOI Listing
December 2014

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

J Hum Genet 2014 Dec 16;59(12):687-90. Epub 2014 Oct 16.

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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg201491
Publisher Site
http://dx.doi.org/10.1038/jhg.2014.91DOI Listing
December 2014

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.

J Hum Genet 2014 Dec 9;59(12):649-54. Epub 2014 Oct 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.88DOI Listing
December 2014

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

J Hum Genet 2014 Oct 11;59(10):589-90. Epub 2014 Sep 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521292PMC
October 2014

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

J Hum Genet 2014 Oct 7;59(10):581-3. Epub 2014 Aug 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.71DOI Listing
October 2014

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 31;166C(3):257-61. Epub 2014 Jul 31.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31406DOI Listing
September 2014

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

J Hum Genet 2014 Aug 26;59(8):471-4. Epub 2014 Jun 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.51DOI Listing
August 2014

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Am J Med Genet A 2014 Sep 16;164A(9):2398-402. Epub 2014 Jun 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36648DOI Listing
September 2014

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

Neurogenetics 2014 Aug 8;15(3):193-200. Epub 2014 Jun 8.

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

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10048-014-0408
Web Search
http://link.springer.com/10.1007/s10048-014-0408-y
Publisher Site
http://dx.doi.org/10.1007/s10048-014-0408-yDOI Listing
August 2014

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Epilepsia 2014 Jul 2;55(7):994-1000. Epub 2014 Jun 2.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12668DOI Listing
July 2014

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Neuromuscul Disord 2014 Jul 24;24(7):642-7. Epub 2014 Apr 24.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.04.002DOI Listing
July 2014

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Neurology 2014 Jun 21;82(24):2230-7. Epub 2014 May 21.

From the Departments of Human Genetics (S.M., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000535DOI Listing
June 2014

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Neurology 2014 May 4;82(18):1587-96. Epub 2014 Apr 4.

From the Department of Pediatrics (M.K., K.H.), Yamagata University Faculty of Medicine, Yamagata; Department of Human Genetics (H.S., C.O., M.N., Y.T., N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama; Department of Immunoregulation (Y.M., T.K.), Research Institute for Microbial Diseases, and WPI Immunology Frontier Research Center, Osaka University, Suita; Division of Neurology (K.K., R.M., S.-i.H.), Saitama Children's Medical Center, Saitama; Division of Neurology (S.W.), Miyagi Children's Hospital, Sendai; Division of Neurology (M.I., H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (K.M.), Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama; Department of Pediatrics (R.T.), Aomori Prefectural Central Hospital, Aomori; and Department of Pediatrics (H.O.), Jichi Medical School, Tochigi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000389DOI Listing
May 2014

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

J Hum Genet 2014 May 13;59(5):292-5. Epub 2014 Mar 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.18DOI Listing
May 2014

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.

Am J Med Genet A 2014 Apr 23;164A(4):998-1002. Epub 2014 Jan 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36369DOI Listing
April 2014

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.

Am J Med Genet A 2014 Apr 23;164A(4):1021-8. Epub 2014 Jan 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36377
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36377DOI Listing
April 2014

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

J Hum Genet 2014 Apr 16;59(4):229-32. Epub 2014 Jan 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2013.143DOI Listing
April 2014

A novel PITX2 mutation causing iris hypoplasia.

Hum Genome Var 2014 31;1:14005. Epub 2014 Jul 31.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2014.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785520PMC
April 2016