Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Syndrome and NSD1[original query] |
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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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age. The Journal of clinical endocrinology and metabolism 2020 7 105 (12): . Peeters Silke, Declerck Ken, Thomas Muriel, Boudin Eveline, Beckers Dominique, Chivu Olimpia, Heinrichs Claudine, Devriendt Koenraad, de Zegher Francis, Van Hul Wim, Vanden Berghe Wim, De Schepper Jean, Rooman Raoul, Mortier Geert, |
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 |
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of medical genetics 2020 4 57 (7): 466-474. Chevarin Martin, Duffourd Yannis, A Barnard Rebecca, Moutton Sébastien, Lecoquierre François, Daoud Fatma, Kuentz Paul, Cabret Caroline, Thevenon Julien, Gautier Elodie, Callier Patrick, St-Onge Judith, Jouan Thibaud, Lacombe Didier, Delrue Marie Ange, Goizet Cyril, Morice-Picard Fanny, Van-Gils Julien, Munnich Arnold, Lyonnet Stanislas, Cormier-Daire Valérie, Baujat Geneviève, Holder Muriel, Petit Florence, Leheup Bruno, Odent Sylvie, Jouk Pierre-Simon, Lopez Gipsy, Geneviève David, Collignon Patrick, Martin-Coignard Dominique, Jacquette Aurélia, Perrin Laurence, Putoux Audrey, Sarrazin Elisabeth, Amarof Khadija, Missotte Isabelle, Coubes Christine, Jagadeesh Sujatha, Lapi Elisabetta, Demurger Florence, Goldenberg Alice, Doco-Fenzy Martine, Mignot Cyril, Héron Delphine, Jean-Marçais Nolwenn, Masurel Alice, El Chehadeh Salima, Marle Nathalie, Huet Frédéric, Binquet Christine, Collod-Beroud Gwenaëlle, Arnaud Pauline, Hanna Nadine, Boileau Catherine, Jondeau Guillaume, Olaso Robert, Lechner Doris, Poe Charlotte, Assoum Mirna, Carmignac Virginie, Duplomb Laurence, Tran Mau-Them Frédéric, Philippe Christophe, Vitobello Antonio, Bruel Ange-Line, Boland Anne, Deleuze Jean-François, Thauvin-Robinet Christel, Rivière Jean-Baptiste, O'Roak Brian J, Faivre Lauren |
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 heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India. American journal of medical genetics. Part A 2021 5 185 (8): 2345-2355. Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha |
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 |
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants. Genes 2022 11 13 (11): . Ferilli Marco, Ciolfi Andrea, Pedace Lucia, Niceta Marcello, Radio Francesca Clementina, Pizzi Simone, Miele Evelina, Cappelletti Camilla, Mancini Cecilia, Galluccio Tiziana, Andreani Marco, Iascone Maria, Chiriatti Luigi, Novelli Antonio, Micalizzi Alessia, Matraxia Marta, Menale Lucia, Faletra Flavio, Prontera Paolo, Pilotta Alba, Bedeschi Maria Francesca, Capolino Rossella, Baban Anwar, Seri Marco, Mammì Corrado, Zampino Giuseppe, Digilio Maria Cristina, Dallapiccola Bruno, Priolo Manuela, Tartaglia Mar |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants. American journal of medical genetics. Part A 2023 4 . Siracusano Martina, Riccioni Assia, Frattale Ilaria, Arturi Lucrezia, Dante Caterina, Galasso Cinzia, Gialloreti Leonardo Emberti, Conteduca Giuseppina, Testa Barbara, Malacarne Michela, Coviello Domenico, Mazzone Lui |
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. American journal of medical genetics. Part A 2023 3 . Yüksel Ülker Aylin, Uluda? Alkaya Dilek, Ça?layan Ahmet Okay, Usluer Esra, Aykut Ayça, Aslanger Ayça, Vural Mehmet, Tüysüz Beyh |
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- Page last updated:Apr 22, 2024
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