Literature DB >> 15633192

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.

Ana Belinda Campos-Xavier, Jean-Laurent Casanova, Yves Doumaz, Josué Feingold, Arnold Munnich, Valérie Cormier-Daire.   

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Year:  2005        PMID： 15633192     DOI： 10.1002/ajmg.a.30490

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

1.  Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.

Authors:  Q Pang; Y Chi; Z Zhao; X Xing; M Li; O Wang; Y Jiang; R Liao; Y Sun; J Dong; W Xia
Journal:  Osteoporos Int       Date:  2015-09-22       Impact factor: 4.507

2.  Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

Authors:  Hui Zheng; Chong Shao; Yan Zheng; Jin-Wei He; Wen-Zhen Fu; Chun Wang; Zhen-Lin Zhang
Journal:  J Bone Miner Metab       Date:  2015-06-09       Impact factor: 2.626

3.  A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

Authors:  Nesrin Besbas; Markus Draaken; Michael Ludwig; Ozgur Deren; Diclehan Orhan; Yelda Bilginer; Fatih Ozaltin
Journal:  Eur J Pediatr       Date:  2009-02-24       Impact factor: 3.183

Review 4.  Advances in osteoclast biology resulting from the study of osteopetrotic mutations.

Authors:  T Segovia-Silvestre; A V Neutzsky-Wulff; M G Sorensen; C Christiansen; J Bollerslev; M A Karsdal; K Henriksen
Journal:  Hum Genet       Date:  2008-11-06       Impact factor: 4.132

5.  Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.

Authors:  Anna Villa; Alessandra Pangrazio; Elena Caldana; Matteo Guerrini; Paolo Vezzoni; Annalisa Frattini; Cristina Sobacchi
Journal:  Cytotechnology       Date:  2008-09-30       Impact factor: 2.058

6.  Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Authors:  A Del Fattore; B Peruzzi; N Rucci; I Recchia; A Cappariello; M Longo; D Fortunati; P Ballanti; M Iacobini; M Luciani; R Devito; R Pinto; M Caniglia; E Lanino; C Messina; S Cesaro; C Letizia; G Bianchini; H Fryssira; P Grabowski; N Shaw; N Bishop; D Hughes; R P Kapur; H K Datta; A Taranta; R Fornari; S Migliaccio; A Teti
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

7.  Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Authors:  Hao Deng; Dan He; Pengfei Rong; Hongbo Xu; Lamei Yuan; Liu Li; Qian Lu; Yi Guo
Journal:  Mol Pain       Date:  2016-06-20       Impact factor: 3.395

Review 8.  The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.

Authors:  Giovanni Zifarelli
Journal:  Cells       Date:  2022-01-21       Impact factor: 6.600
  8 in total

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