Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
Records 1 - 18 (of 18 Records) |
Query Trace: Osteopetrosis[original query] |
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Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. Journal of human genetics 2002 47 (8): 400-6. Ohmori Hioryuki, Makita Yoshio, Funamizu Makiko, Hirooka Kenzou, Hosoi Takayuki, Orimo Hajime, Suzuki Takao, Ikari Katsunori, Nakajima Toshiaki, Inoue Ituro, Hata Aki |
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003 Oct 18 (10): 1740-7. Frattini Annalisa, Pangrazio Alessandra, Susani Lucia, Sobacchi Cristina, Mirolo Massimiliano, Abinun Mario, Andolina Marino, Flanagan Adrienne, Horwitz Edwin M, Mihci Ercan, Notarangelo Luigi D, Ramenghi Ugo, Teti Anna, Van Hove Johan, Vujic Dragana, Young Terri, Albertini Alberto, Orchard Paul J, Vezzoni Paolo, Villa An |
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. Calcified tissue international 2004 Jan 74 (1): 35-41. Sobacchi C, Vezzoni P, Reid D M, McGuigan F E A, Frattini A, Mirolo M, Albhaga O M E, Musio A, Villa A, Ralston S |
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. The Journal of clinical endocrinology and metabolism 2006 Mar 91 (3): 995-1000. Kornak U, Ostertag A, Branger S, Benichou O, de Vernejoul M |
Polymorphisms of the CLCN7 gene are associated with BMD in women. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005 Nov 20 (11): 1960-7. Pettersson Ulrika, Albagha Omar M E, Mirolo Max, Taranta Anna, Frattini Annalisa, McGuigan Fiona E A, Vezzoni Paolo, Teti Anna, van Hul Wim, Reid David M, Villa Anna, Ralston Stuart |
CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. Bone 2008 Dec 43 (6): 995-8. Chu Kang, Koller Daniel L, Ichikawa Shoji, Snyder Richard, Curry Leah, Lai Dongbing, Austin Anthony, Xuei Xiaoling, Edenberg Howard J, Hui Siu L, Foroud Tatiana M, Peacock Munro, Econs Michael |
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. European journal of human genetics : EJHG 2009 May 17 (5): 664-72. Bliznetz Elena A, Tverskaya Svetlana M, Zinchenko Rena A, Abrukova Anna V, Savaskina Ekaterina N, Nikulin Maxim V, Kirillov Alexander G, Ginter Evgeny K, Polyakov Alexander |
Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010 Dec 25 (12): 2592-605. Chung Pui Yan Jenny, Beyens Greet, Riches Philip L, Van Wesenbeeck Liesbeth, de Freitas Fenna, Jennes Karen, Daroszewska Anna, Fransen Erik, Boonen Steven, Geusens Piet, Vanhoenacker Filip, Verbruggen Leon, Van Offel Jan, Goemaere Stefan, Zmierczak Hans-Georg, Westhovens René, Karperien Marcel, Papapoulos Socrates, Ralston Stuart H, Devogelaer Jean-Pierre, Van Hul W |
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population. Clinical genetics 2015 Jul 88 (1): 74-9. Anderson S L, Jalas C, Fedick A, Reid K F, Carpenter T O, Chirnomas D, Treff N R, Ekstein J, Rubin B |
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2015 Sep . Pang Q, Chi Y, Zhao Z, Xing X, Li M, Wang O, Jiang Y, Liao R, Sun Y, Dong J, Xia |
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. Pediatric blood & cancer 2016 Mar . Simanovsky Natalia, Rozovsky Katya, Hiller Nurith, Weintraub Michael, Stepensky Poli |
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. Acta pharmacologica Sinica 2017 8 38 (11): 1456-1465. Zhang Xiao-Ya, He Jin-Wei, Fu Wen-Zhen, Wang Chun, Zhang Zhen-L |
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. BMJ open ophthalmology 2018 3 (1): e000180. Cao Wenhong, Wei Wenbin, Wu Qi |
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. Journal of human genetics 2020 10 66 (4): 371-377. Xue Jing-Yi, Wang Zheng, Smithson Sarah F, Burren Christine P, Matsumoto Naomichi, Nishimura Gen, Ikegawa Shiro, Guo Lo |
Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report. BMC pediatrics 2021 7 21 (1): 297. Wu Ping, Cai Zhe, Jiang Wen-Hui, Lu Gen, Wu Pei-Qiong, Xie Zhi-Wei, Peng Jun-Zheng, Chen Chen, Qi Jun-Ye, Xu Li-Zhen, Shen Kun-Ling, Zeng Hua-Song, Yin Gen-Qu |
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings. American journal of medical genetics. Part A 2021 5 185 (8): 2455-2463. Mushiba Aziza M, Faqeih Eissa, Saleh Mohammed A, Ramzan Khushnooda, Imtiaz Faiqa, Al-Owain Mohammed, Alhashem Amal M, Alswaid Abdulrahm |
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns. HGG advances 2022 1 3 (1): 100059. Gold Nina B, Harrison Steven M, Rowe Jared H, Gold Jessica, Furutani Elissa, Biffi Alessandra, Duncan Christine N, Shimamura Akiko, Lehmann Leslie E, Green Robert |
[Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 10 61 (11): 1038-1042. A Wei, G H Zhu, M Q Qin, C G Jia, B Wang, J Yang, Y H Luo, Y F Jing, Y Yan, X Zhou, T Y Wa |
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- Page last updated:Apr 16, 2024
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