Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and SHOX[original query] |
---|
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 |
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. Journal of medical genetics 2009 Dec 46 (12): 834-9. Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum W F, Rappold |
[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 |
[Genetic analysis of two cases with Dandy-Walker deformed fetus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 10 34 (5): 666-670. Yao Juan, Fang Rong, Shen Xueping, Shen Guosong, Zhang |
Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome. Bioscience reports 2018 12 39 (1): . Li Li, Li Qingfeng, Wang Qiong, Liu Li, Li Ru, Liu Huishu, He Yaojuan, Lash Gendie |
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 |
Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2020 8 33 (9): 1155-1163. Malhotra Rakhi, Shukla Rashmi, Kabra Madhulika, Gupta Yashdeep, Jyotsna Viveka P, Khadgawat Raje |
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 |
- Page last reviewed:Feb 1, 2024
- Content source: