150 related articles for article (PubMed ID: 17033731)
21. A single-center experience in 20 patients with infantile malignant osteopetrosis.
Mazzolari E; Forino C; Razza A; Porta F; Villa A; Notarangelo LD
Am J Hematol; 2009 Aug; 84(8):473-9. PubMed ID: 19507210
[TBL] [Abstract][Full Text] [Related]
22. [Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].
Wang M; Chen T; Jin L; Qu L; Wang J; Li Y; Cheng J; Xu Z; Wang C; Gao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):377-381. PubMed ID: 28604959
[TBL] [Abstract][Full Text] [Related]
23. [Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis].
Wei A; Zhu GH; Qin MQ; Jia CG; Wang B; Yang J; Luo YH; Jing YF; Yan Y; Zhou X; Wang TY
Zhonghua Er Ke Za Zhi; 2023 Nov; 61(11):1038-1042. PubMed ID: 37899344
[No Abstract] [Full Text] [Related]
24. Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.
Deng H; He D; Rong P; Xu H; Yuan L; Li L; Lu Q; Guo Y
Mol Pain; 2016; 12():. PubMed ID: 27325559
[TBL] [Abstract][Full Text] [Related]
25. Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
Palagano E; Susani L; Menale C; Ramenghi U; Berger M; Uva P; Oppo M; Vezzoni P; Villa A; Sobacchi C
J Bone Miner Res; 2017 Jan; 32(1):99-105. PubMed ID: 27468155
[TBL] [Abstract][Full Text] [Related]
26. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
Campos-Xavier AB; Saraiva JM; Ribeiro LM; Munnich A; Cormier-Daire V
Hum Genet; 2003 Feb; 112(2):186-9. PubMed ID: 12522560
[TBL] [Abstract][Full Text] [Related]
27. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Bliznetz EA; Tverskaya SM; Zinchenko RA; Abrukova AV; Savaskina EN; Nikulin MV; Kirillov AG; Ginter EK; Polyakov AV
Eur J Hum Genet; 2009 May; 17(5):664-72. PubMed ID: 19172990
[TBL] [Abstract][Full Text] [Related]
28. Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
Li L; Lv SS; Wang C; Yue H; Zhang ZL
Mol Med Rep; 2019 Jun; 19(6):5030-5038. PubMed ID: 30942407
[TBL] [Abstract][Full Text] [Related]
29. Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
Jodeh W; Katz AJ; Hart M; Warden SJ; Niziolek P; Alam I; Ing S; Polgreen LE; Imel EA; Econs MJ
J Clin Endocrinol Metab; 2024 Jun; 109(7):1726-1732. PubMed ID: 38261998
[TBL] [Abstract][Full Text] [Related]
30. Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
Ott CE; Fischer B; Schröter P; Richter R; Gupta N; Verma N; Kabra M; Mundlos S; Rajab A; Neitzel H; Kornak U
Bone; 2013 Aug; 55(2):292-7. PubMed ID: 23685543
[TBL] [Abstract][Full Text] [Related]
31. Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q; Chi Y; Zhao Z; Xing X; Li M; Wang O; Jiang Y; Liao R; Sun Y; Dong J; Xia W
Osteoporos Int; 2016 Mar; 27(3):1047-1055. PubMed ID: 26395888
[TBL] [Abstract][Full Text] [Related]
32. The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C; Frattini A; Orchard P; Porras O; Tezcan I; Andolina M; Babul-Hirji R; Baric I; Canham N; Chitayat D; Dupuis-Girod S; Ellis I; Etzioni A; Fasth A; Fisher A; Gerritsen B; Gulino V; Horwitz E; Klamroth V; Lanino E; Mirolo M; Musio A; Matthijs G; Nonomaya S; Notarangelo LD; Ochs HD; Superti Furga A; Valiaho J; van Hove JL; Vihinen M; Vujic D; Vezzoni P; Villa A
Hum Mol Genet; 2001 Aug; 10(17):1767-73. PubMed ID: 11532986
[TBL] [Abstract][Full Text] [Related]
33. Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.
Perdu B; Odgren PR; Van Wesenbeeck L; Jennes K; Mackay CC; Van Hul W
Calcif Tissue Int; 2009 May; 84(5):355-60. PubMed ID: 19259722
[TBL] [Abstract][Full Text] [Related]
34. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.
Sobacchi C; Pangrazio A; Lopez AG; Gomez DP; Caldana ME; Susani L; Vezzoni P; Villa A
J Bone Miner Res; 2014 Jul; 29(7):1646-50. PubMed ID: 24535816
[TBL] [Abstract][Full Text] [Related]
35. Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
Wu P; Cai Z; Jiang WH; Lu G; Wu PQ; Xie ZW; Peng JZ; Chen C; Qi JY; Xu LZ; Shen KL; Zeng HS; Yin GQ
BMC Pediatr; 2021 Jul; 21(1):297. PubMed ID: 34210262
[TBL] [Abstract][Full Text] [Related]
36. Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
Zhang ZL; He JW; Zhang H; Hu WW; Fu WZ; Gu JM; Yu JB; Gao G; Hu YQ; Li M; Liu YJ
J Bone Miner Metab; 2009; 27(4):444-51. PubMed ID: 19288050
[TBL] [Abstract][Full Text] [Related]
37. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).
Zheng H; Shao C; Zheng Y; He JW; Fu WZ; Wang C; Zhang ZL
J Bone Miner Metab; 2016 Jul; 34(4):440-6. PubMed ID: 26056022
[TBL] [Abstract][Full Text] [Related]
38. In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
Blair HC; Borysenko CW; Villa A; Schlesinger PH; Kalla SE; Yaroslavskiy BB; Garćia-Palacios V; Oakley JI; Orchard PJ
J Bone Miner Res; 2004 Aug; 19(8):1329-38. PubMed ID: 15231021
[TBL] [Abstract][Full Text] [Related]
39. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
Del Fattore A; Peruzzi B; Rucci N; Recchia I; Cappariello A; Longo M; Fortunati D; Ballanti P; Iacobini M; Luciani M; Devito R; Pinto R; Caniglia M; Lanino E; Messina C; Cesaro S; Letizia C; Bianchini G; Fryssira H; Grabowski P; Shaw N; Bishop N; Hughes D; Kapur RP; Datta HK; Taranta A; Fornari R; Migliaccio S; Teti A
J Med Genet; 2006 Apr; 43(4):315-25. PubMed ID: 16118345
[TBL] [Abstract][Full Text] [Related]
40. Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A
J Bone Miner Res; 2009 Jan; 24(1):162-7. PubMed ID: 18715141
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]