Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Madelung Deformity[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 |
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 |
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 |
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