HuGE Literature Finder
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| Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population. Pediatric research 2020 May . Yu Xian-Xian, Chu Xun, Wu Wen-Jie, Wei Zhi-Liang, Song Huan-Lei, Bai Mei-Rong, Lu Yan-Jiao, Gu Bei-Lin, Gong Yi-Ming, Cai W |
| Genetic investigation of patients with tall stature. European journal of endocrinology 2019 Nov . Vasco de Albuquerque Albuquerque Edoarda, Ferreira de Assis Funari Mariana, Pereira de Souza Quedas Elisângela, Sayuri Honjo Kawahira Rachel, Soares Jallad Raquel, Homma Thais Kataoka, Martin Regina, Brito Vinícius Nahime, Malaquias Alexsandra C, Lerario Antonio Marcondes, Rosenberg Carla, Victorino Krepischi Ana Cristina, Ae Kim Chong, Arnhold Ivo Jp, Jorge Alexander Augusto de Li |
| 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome. Molecular cytogenetics 2016 9 71. Dong Hai-Yun, Zeng Hui, Hu Yi-Qiao, Xie Li, Wang Jian, Wang Xiu-Ying, Yang Yi-Feng, Tan Zhi-Pi |
| Clinical and molecular heterogeneity in brazilian patients with sotos syndrome. Molecular syndromology 2015 Feb 6 (1): 32-8. Vieira Gustavo H, Cook Melissa M, Ferreira De Lima Renata L, Frigério Domingues Carlos E, de Carvalho Daniel R, Soares de Paiva Isaias, Moretti-Ferreira Danilo, Srivastava Anand |
| Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. Journal of human genetics 2012 Mar 57 (3): 207-11. Yoneda Yuriko, Saitsu Hirotomo, Touyama Mayumi, Makita Yoshio, Miyamoto Akie, Hamada Keisuke, Kurotaki Naohiro, Tomita Hiroaki, Nishiyama Kiyomi, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Ogata Kazuhiro, Naritomi Kenji, Matsumoto Naomic |
| MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. European journal of medical genetics 2009 Jul . Claudia F, Fernando K, Pablo N, Chong K, Débora B, Lílian A, Koiffmann Célia P |
| Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Human mutation 2007 Nov 28 (11): 1098-107. Saugier-Veber Pascale, Bonnet Céline, Afenjar Alexandra, Drouin-Garraud Valérie, Coubes Christine, Fehrenbach Séverine, Holder-Espinasse Muriel, Roume Joëlle, Malan Valérie, Portnoi Marie-France, Jeanne Nicolas, Baumann Clarisse, Héron Delphine, David Albert, Gérard Marion, Bonneau Dominique, Lacombe Didier, Cormier-Daire Valérie, Billette de Villemeur Thierry, Frébourg Thierry, Bürglen Lyd |
| Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. BMC medical genetics 2007 8 (1): 68. Buxbaum Joseph D, Cai Guiqing, Nygren Gudrun, Chaste Pauline, Delorme Richard, Goldsmith Juliet, Råstam Maria, Silverman Jeremy M, Hollander Eric, Gillberg Christopher, Leboyer Marion, Betancur Catali |
| Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. Developmental medicine and child neurology 2006 Jul 48 (7): 582-8. de Boer L, Röder I, Wit J |
| NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genetics in medicine : official journal of the American College of Medical Genetics 2005 Oct 7 (8): 524-33. Waggoner Darrel J, Raca Gordana, Welch Katherine, Dempsey Melissa, Anderes Ethan, Ostrovnaya Irina, Alkhateeb Asem, Kamimura Junichi, Matsumoto Naomichi, Schaeffer G Bradley, Martin Christa Lese, Das So |
| Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. American journal of medical genetics. Part A 2005 Apr 134 (3): 247-53. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero G B, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco E Lucci, Neri G, Pierluigi M, Bricarelli F Dagna, Grasso M, Faravelli Frances |
| Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. European journal of endocrinology / European Federation of Endocrine Societies 2004 Sep 151 (3): 333-41. De Boer L, Van Duyvenvoorde H A, Willemstein-Van Hove E C, Hoogerbrugge C M, Van Doorn J, Maassen J A, Karperien M, Wit J |
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- Page last updated:Jun 27, 2022
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