Kobe University Repository : Kernel タイトル Tit le The first Japanese familial sotos syndrome with a novel mutat ion of the NSD 1 gene 著者
暂无分享,去创建一个
[1] N. Rahman,et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. , 2005, American journal of human genetics.
[2] G. Scarano,et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth , 2005, American journal of medical genetics. Part A.
[3] R. Hennekam,et al. Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome , 2004, Hormone Research in Paediatrics.
[4] A. Munnich,et al. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. , 2004, American journal of human genetics.
[5] S. Tsuneishi,et al. Clinical features of infants with subependymal germinolysis and choroid plexus cysts , 2003 .
[6] Jan-Fang Cheng,et al. Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion , 2003, Human mutation.
[7] D. Horn,et al. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes , 2003, European Journal of Human Genetics.
[8] A. Munnich,et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes , 2003, Journal of medical genetics.
[9] N. Niikawa,et al. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions , 2003, Journal of medical genetics.
[10] N. Matsumoto,et al. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene , 2003, Journal of medical genetics.
[11] N. Rahman,et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. , 2003, American journal of human genetics.
[12] 黒滝 直弘. 私の論文から Haploinsufficiency of NSD1 causes Sotos syndrome , 2003 .
[13] N. Niikawa,et al. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. , 2001, Gene.
[14] M. Cohen. Tumors and nontumors in Sotos syndrome. , 1999, American journal of medical genetics.
[15] I. Nonaka,et al. Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. , 1999, Human molecular genetics.
[16] W. Brown,et al. Identical twins discordant for Sotos syndrome. , 1998, American journal of medical genetics.
[17] J. Allanson,et al. Sotos syndrome: evolution of facial phenotype subjective and objective assessment. , 1996, American journal of medical genetics.
[18] T. Cole,et al. Sotos syndrome: a study of the diagnostic criteria and natural history. , 1994, Journal of medical genetics.
[19] S. Bertolone,et al. Risk of malignancy in Sotos syndrome. , 1992, The Journal of pediatrics.
[20] I. Winship. Sotos syndrome — autosomal dominant inheritance substantiated , 1985, Clinical genetics.
[21] J. Crawford,et al. CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. , 1964, The New England journal of medicine.