Literature DB >> 14627693

Identification of eight novel NSD1 mutations in Sotos syndrome.

J Kamimura1, Y Endo, N Kurotaki, A Kinoshita, N Miyake, O Shimokawa, N Harada, R Visser, H Ohashi, K Miyakawa, J Gerritsen, A M Innes, L Lagace, M Frydman, N Okamoto, R Puttinger, S Raskin, B Resic, V Culic, K Yoshiura, T Ohta, T Kishino, M Ishikawa, N Niikawa, N Matsumoto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 14627693      PMCID： PMC1735316          DOI： 10.1136/jmg.40.11.e126

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  9 in total

Review 1.  Examining the impact of gene variants on histone lysine methylation.

Authors:  Capucine Van Rechem; Johnathan R Whetstine
Journal:  Biochim Biophys Acta       Date:  2014-05-23

2.  Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Authors:  Katheryn Grand; Christina Gonzalez-Gandolfi; Amanda M Ackermann; Deema Aljeaid; Emma Bedoukian; Lynne M Bird; Diva D De Leon; Jullianne Diaz; Robert J Hopkin; Sejal P Kadakia; Beth Keena; Karen O Klein; Ian Krantz; Eyby Leon; Katherine Lord; Carey McDougall; Livija Medne; Cara M Skraban; Charles A Stanley; Jennifer Tarpinian; Elaine Zackai; Matthew A Deardorff; Jennifer M Kalish
Journal:  Am J Med Genet A       Date:  2019-02-04       Impact factor: 2.802

Review 3.  Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

Authors:  Jill A Fahrner; Hans T Bjornsson
Journal:  Annu Rev Genomics Hum Genet       Date:  2014       Impact factor: 8.929

Review 4.  Overgrowth Syndromes.

Authors:  Andrew C Edmondson; Jennifer M Kalish
Journal:  J Pediatr Genet       Date:  2015-09-25

5.  Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

Authors:  Remco Visser; Osamu Shimokawa; Naoki Harada; Akira Kinoshita; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2004-11-16       Impact factor: 11.025

Review 6.  Genetic considerations in the prenatal diagnosis of overgrowth syndromes.

Authors:  Neeta Vora; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2009-10       Impact factor: 3.050

7.  The NSD1 and EZH2 overgrowth genes, similarities and differences.

Authors:  Katrina Tatton-Brown; Nazneen Rahman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-04-16       Impact factor: 3.908

8.  DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.

Authors:  Hidetaka Watanabe; Ken Higashimoto; Noriko Miyake; Sumiyo Morita; Takuro Horii; Mika Kimura; Takayuki Suzuki; Toshiyuki Maeda; Hidenori Hidaka; Saori Aoki; Hitomi Yatsuki; Nobuhiko Okamoto; Tetsuji Uemura; Izuho Hatada; Naomichi Matsumoto; Hidenobu Soejima
Journal:  FASEB J       Date:  2019-11-28       Impact factor: 5.191

9.  Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

Authors:  Tuğba Kontbay; Zeynep Şıklar; Serdar Ceylaner; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-05-20
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.