Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and NSD1[original query] |
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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 |
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 |
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 |
The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia. Leukemia 2019 Jun 33 (6): 1387-1399. Zhao Jie, Liang Jian-Wei, Xue Hui-Liang, Shen Shu-Hong, Chen Jing, Tang Yan-Jing, Yu Li-Sha, Liang Huan-Huan, Gu Long-Jun, Tang Jing-Yan, Li Ben-Sha |
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 Thaís Kataoka, Martin Regina Matsunaga, Brito Vinicius Nahime, Malaquias Alexsandra Christianne, Lerario Antonio Marcondes, Rosenberg Carla, Victorino Krepischi Ana Cristina, Ae Kim Chong, Arnhold Ivo Jorge Prado, Jorge Alexander Augusto de Li |
The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients. Spine 2020 12 46 (13): E726-E733. Machida Masafumi, Katoh Hiroyuki, Machida Masayoshi, Miyake Atsushi, Taira Katsuaki, Ohashi Hirofu |
Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes. Journal of clinical medicine 2022 5 11 (9): . Kang Dain, Jung Jin, Park Silvia, Cho Byung-Sik, Kim Hee-Je, Kim Yeojae, Lee Jong-Mi, Kim Hoon Seok, Ahn Ari, Kim Myungshin, Kim Yongg |
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