Matsumoto Nomich | Department of Human Genetics, Yokohama City University Graduate School of Medicine

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著作論文

The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
Phenotype-genotype correlation in two patients with 12q proximal deletion
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
Chromosome 1q deletion and congenital glaucoma
Advance in genetic study of Pervasive Developmental Disorder
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

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