Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Leri Weill Dyschondrosteosis[original query] |
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Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. The Journal of clinical endocrinology and metabolism 2002 Mar 87 (3): 1402-6. Rappold Gudrun A, Fukami Maki, Niesler Beate, Schiller Simone, Zumkeller Walter, Bettendorf Markus, Heinrich Udo, Vlachopapadoupoulou Elpis, Reinehr Thomas, Onigata Kazumichi, Ogata Tsuto |
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. The Journal of clinical endocrinology and metabolism 2010 Jun 95 (6): 3010-8. D'haene Barbara, Hellemans Jan, Craen Margarita, De Schepper Jean, Devriendt Koen, Fryns Jean-Pierre, Keymolen Kathelijn, Debals Eveline, de Klein Annelies, de Jong Elisabeth M, Segers Karin, De Paepe Anne, Mortier Geert, Vandesompele Jo, De Baere Elfri |
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Human molecular genetics 2011 1 20 (8): 1547-59. Aza-Carmona Miriam, Shears Debbie J, Yuste-Checa Patricia, Barca-Tierno Verónica, Hisado-Oliva Alfonso, Belinchón Alberta, Benito-Sanz Sara, Rodríguez J Ignacio, Argente Jesús, Campos-Barros Angel, Scambler Peter J, Heath Karen |
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. Hormone research in paediatrics 2016 Sep . Auger Julie, Baptiste Amandine, Benabbad Imane, Thierry Gaëlle, Costa Jean-Marc, Amouyal Mélanie, Kottler Marie-Laure, Leheup Bruno, Touraine Renaud, Schmitt Sébastien, Lebrun Marine, Cormier Daire Valérie, Bonnefont Jean-Paul, de Roux Nicolas, Elie Caroline, Rosilio Myri |
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. Journal of human genetics 2016 Mar . Shima Hirohito, Tanaka Toshiaki, Kamimaki Tsutomu, Dateki Sumito, Muroya Koji, Horikawa Reiko, Kanno Junko, Adachi Masanori, Naiki Yasuhiro, Tanaka Hiroyuki, Mabe Hiroyo, Yagasaki Hideaki, Kure Shigeo, Matsubara Yoichi, Tajima Toshihiro, Kashimada Kenichi, Ishii Tomohiro, Asakura Yumi, Fujiwara Ikuma, Soneda Shun, Nagasaki Keisuke, Hamajima Takashi, Kanzaki Susumu, Jinno Tomoko, Ogata Tsutomu, Fukami Maki, |
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness. Journal of human genetics 2016 Oct . Hirschfeldova Katerina, Florianova Martina, Kebrdlova Vera, Urbanova Marketa, Stekrova Jit |
[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study]. Orvosi hetilap 2017 8 158 (34): 1351-1356. Dávid Anna, Butz Henriett, Halász Zita, Török Dóra, Nyir? Gábor, Muzsnai Ágota, Csákváry Violetta, Luczay Andrea, Sallai Ágnes, Hosszú Éva, Felszeghy Enik?, Tar Attila, Szántó Zsuzsanna, Fekete Gy László, Kun Imre, Patócs Attila, Bertalan Ri |
Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies. PeerJ 2020 11 8 e10236. Capkova Pavlina, Capkova Zuzana, Rohon Peter, Adamová Katerina, Zapletalova Jiri |
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of clinical research in pediatric endocrinology 2023 9 . Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mand |
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts. Cytogenetic and genome research 2023 3 . Bunyan David J, Hobbs James I, Duncan-Flavell Philippa J, Howarth Rachel J, Beal Sarah, Baralle Diana, Thomas Nicholas Sim |
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