Kudo Takayuki | Department Of Otorhinolaryngology Tohoku University School Of Medicine

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
A Japanese patient with a mild Lenz-Majewski syndrome
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
Phenotype-genotype correlation in two patients with 12q proximal deletion
Renal tubular dysgenesis complicated with severe cranium hypoplasia
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
A Case of Basal Cell Adenocarcinoma of the Parotid Gland
A Case of Leiomyosarcoma of the Sphenoid Sinus
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
Autosomal dominant onychodystrophy and congenital sensorineural deafness
A severe case of Moebius syndrome with calcification on the fourth ventricular floor
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

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