Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: SHOX[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 |
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 |
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 |
Copy number variants in short children born small for gestational age. Hormone research in pædiatrics 2014 82 (5): 310-8. Wit Jan M, van Duyvenvoorde Hermine A, van Klinken Jan B, Caliebe Janina, Bosch Cathy A J, Lui Julian C, Gijsbers Antoinet C J, Bakker Egbert, Breuning Martijn H, Oostdijk Wilma, Losekoot Monique, Baron Jeffrey, Binder Gerhard, Ranke Michael B, Ruivenkamp Claudia A |
SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment. Hormone research in pædiatrics 2015 83 (1): 26-35. Shapiro Sofia, Klein Genna W, Klein Michelle L, Wallach Elizabeth J, Fen Ye, Godbold James H, Rapaport Robe |
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 |
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. Journal of clinical research in pediatric endocrinology 2015 Dec . Delil Kenan, Karabulut Halil Gürhan, Hac?hamdio?lu Bülent, ??klar Zeynep, Berbero?lu Merih, Öçal Gönül, Tükün Ajlan, Ilg?n Ruhi Hati |
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocrine journal 2017 8 64 (10): 947-954. Hattori Atsushi, Katoh-Fukui Yuko, Nakamura Akie, Matsubara Keiko, Kamimaki Tsutomu, Tanaka Hiroyuki, Dateki Sumito, Adachi Masanori, Muroya Koji, Yoshida Shinobu, Ida Shinobu, Mitani Marie, Nagasaki Keisuke, Ogata Tsutomu, Suzuki Erina, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Narumi Satoshi, Tanaka Toshiaki, Fukami Ma |
[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 |
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity. Pediatric research 2017 12 83 (2): 438-444. Genoni Giulia, Monzani Alice, Castagno Matteo, Ricotti Roberta, Rapa Anna, Petri Antonella, Babu Deepak, Giordano Mara, Prodam Flavia, Bona Gianni, Bellone Simonet |
SHOX deficiency in short Taiwanese children: A single-center experience. Journal of the Formosan Medical Association = Taiwan yi zhi 2017 12 117 (10): 909-914. Tung Yi-Ching, Lee Ni-Chung, Hwu Wuh-Liang, Liu Shih-Yao, Lee Cheng-Ting, Chien Yin-Hsiu, Tsai Wen- |
Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature. Korean journal of pediatrics 2017 11 60 (10): 327-332. Alharthi Abdulla A, El-Hallous Ehab I, Talaat Iman M, Alghamdi Hamed A, Almalki Matar I, Gaber Ahm |
[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 |
Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing. Turkish journal of medical sciences 2018 5 48 (2): 386-390. Bak?r Abdullatif, Yirmibe? Karao?uz Meral, Perçin Ferda Emriye, Tu? Esra, Cinaz Peyami, Ergün Mehmet A |
High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction. Leukemia research 2018 2 66 79-84. Singh Minu, Bhatia Prateek, Trehan Amita, Varma Neelam, Sachdeva Manupdesh Singh, Bansal Deepak, Jain Richa, Naseem Sha |
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 |
Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics 2019 Jun . Funari Mariana F A, de Barros Juliana S, Santana Lucas S, Lerario Antonio M, Freire Bruna L, Homma Thais K, Vasques Gabriela A, Mendonca Berenice B, Nishi Mirian Y, Jorge Alexander A |
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 |
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 2023-2030. Freire Bruna L, Homma Thais K, Funari Mariana F A, Lerario Antônio M, Vasques Gabriela A, Malaquias Alexsandra C, Arnhold Ivo J P, Jorge Alexander A |
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 |
IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children. Journal, genetic engineering & biotechnology 2021 7 19 (1): 109. Fadel Islam M, Ragab Moustafa H, Eid Ola M, Helmy Nivine A, El-Bassyouni Hala T, Mazen In |
Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature. Genes 2021 10 12 (10): . Stritar Jera, Stavber Lana, Ficko Maja, Kotnik Primož, Battelino Tadej, Trebušak Podkrajšek Katarina, Hovnik Tin |
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 |
Real life long-term efficacy and safety of rhGH therapy in children with SHOX deficiency. Endocrine connections 2023 4 . Bruzzi Patrizia, Vannelli Silvia, Scarano Emanuela, Di Iorgi Natascia, Parpagnoli Maria, Salerno Mariacarolina, Pitea Marco, Street Maria Elisabeth, Secco Andrea, Trettene Adolfo Andrea, Wasniewska Malgorzata, Corciulo Nicola, Tornese Gianluca, Faienza Maria Felicia, Delvecchio Maurizio, Madeo Simona Filomena, Iughetti Loren |
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 |
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities. Gene 2023 10 892 147881. Z Spurná, P ?apková, L Punová, J DuchoslavovÁ, D Aleksijevic, P Venhá?ová, J Srovnal, J Štellmachová, V Curtisová, V Bitnerová, J Pet?ková, K Kola?íková, M Janíková, R Kratochvílová, P Vrt?l, R Vodi?ka, R Vrt?l, J Zapletalo |
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- Page last updated:Apr 22, 2024
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