Prader-Willi 症候群様の症状を呈した1p36欠失症候群
スポンサーリンク
概要
- 論文の詳細を見る
- 2010-08-01
著者
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Kurosawa Kenji
Division Of Medical Genetics Kanagawa Children's Medical Center
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YAMAMOTO Kayono
Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University
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Yoshihashi Hiroshi
Division Of Medical Genetics Kanagawa Children's Medical Center
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Adachi Masanori
Division Of Endocrinology And Metabolism Kanagawa Children's Medical Center
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Furuya Noritaka
Division Of Medical Genetics Kanagawa Children's Medical Center
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Yamamoto Kayono
Department Of Genetic Counseling Graduate School Of Humanities And Sciences Ochanomizu University
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Kurosawa Kenji
Division Of Genetics Clinical Research Institute Kanagawa Children's Medical Center
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Osaka Hitoshi
Division Of Neurology Clinical Research Institute Kanagawa Children's Medical Center
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露崎 愁
Division of Medical Genetics, Kanagawa Children's Medical Center
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露崎 愁
Division Of Medical Genetics Kanagawa Children's Medical Center
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Furuya Noritaka
Division Of Genetics Kanagawa Children's Medical Center
関連論文
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
- Brain MRI findings of older patients with Pallister-Killian syndrome
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome : Report of two cases and review of the literature
- No sex differences in 18 trisomy births in the Kanagawa Birth Defects Monitoring Program
- Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation
- Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
- MECHANISM OF INHIBITION OF CASPASE-3 ACTIVITY IN STARFISH UNFERTILIZED EGGS(Developmental Biology,Abstracts of papers presented at the 76^ Annual Meeting of the Zoological Society of Japan)
- CASPASE-3 INHIBITOR IN STARFISH IMMATURE OOCYTES(Developmental Biology,Abstracts of papers presented at the 74^ Annual Meeting of the Zoological Society of Japan)
- Prader-Willi 症候群様の症状を呈した1p36欠失症候群
- Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
- 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
- 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
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
- Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia