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Quoted phrase not found in phrase index: "Osteopetrosis, autosomal dominant 3"
Page 1
Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.
Wang Z, Li X, Wang Y, Fu W, Liu Y, Zhang Z, Wang C. Wang Z, et al. Front Endocrinol (Lausanne). 2022 Mar 17;13:819641. doi: 10.3389/fendo.2022.819641. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35370969 Free PMC article.
BACKGROUND: Autosomal dominant osteopetrosis II (ADO II, MIM166600) is a sclerosing bone disorder caused by CLCN7 mutation. ...MATERIALS AND METHODS: Thirty-six patients diagnosed with ADO II in Shanghai Jiao Tong University Affiliated Sixth People's Hospital …
BACKGROUND: Autosomal dominant osteopetrosis II (ADO II, MIM166600) is a sclerosing bone disorder caused by CLCN7 mutat …
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).
Butscheidt S, Rolvien T, Kornak U, Schmidt FN, Schinke T, Amling M, Oheim R. Butscheidt S, et al. Calcif Tissue Int. 2018 Jan;102(1):41-52. doi: 10.1007/s00223-017-0332-x. Epub 2017 Oct 10. Calcif Tissue Int. 2018. PMID: 29018903
While one of the most common forms of HBM is CLCN7-related autosomal dominant osteopetrosis type II (ADO II), there is no consensus on diagnostic thresholds. We therefore wanted to assess whether CLCN7-osteopetrosis patients differ from benign HBM case …
While one of the most common forms of HBM is CLCN7-related autosomal dominant osteopetrosis type II (ADO II), there is …
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.
Aggarwal S. Aggarwal S. Gene. 2013 Oct 1;528(1):41-5. doi: 10.1016/j.gene.2013.04.069. Epub 2013 May 5. Gene. 2013. PMID: 23657117 Review.
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other disorders in this group, which were initially described as variant forms of osteopetrosis, are now recognised to be distinct conditions. …
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other diso …
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. Waguespack SG, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):771-8. doi: 10.1210/jc.2006-1986. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164308
CONTEXT: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. ...Fracture is the most prevalent consequence of ADO, although other more severe manifestations of disease c …
CONTEXT: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the c …
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ. Waguespack SG, et al. J Bone Miner Res. 2003 Aug;18(8):1513-8. doi: 10.1359/jbmr.2003.18.8.1513. J Bone Miner Res. 2003. PMID: 12929941 Free article.
In 11 of 12 kindreds, five different missense mutations were identified in the ClCN7 gene, indicating the genetic basis and possible dominant negative mechanism for ADO2. INTRODUCTION: Autosomal dominant osteopetrosis, type II (ADO2) is an uncommon scl …
In 11 of 12 kindreds, five different missense mutations were identified in the ClCN7 gene, indicating the genetic basis and possible domi …
Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3.
Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Bénichou O, et al. Am J Hum Genet. 2001 Sep;69(3):647-54. doi: 10.1086/323132. Epub 2001 Jul 23. Am J Hum Genet. 2001. PMID: 11468688 Free PMC article.
As well as the two or more autosomal recessive types, two autosomal dominant forms of osteopetrosis, differentiated by clinical and radiological signs, are described. Autosomal dominant osteopetrosis (ADO) type II, also known as "A …
As well as the two or more autosomal recessive types, two autosomal dominant forms of osteopetrosis, differentia …
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. Pang Q, et al. Osteoporos Int. 2016 Mar;27(3):1047-1055. doi: 10.1007/s00198-015-3320-x. Epub 2015 Sep 22. Osteoporos Int. 2016. PMID: 26395888
SUMMARY: Osteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetros …
SUMMARY: Osteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channe …
Bone Mineral Density and Microarchitecture in Patients With Autosomal Dominant Osteopetrosis: A Report of Two Cases.
Arruda M, Coelho MC, Moraes AB, de Paula Paranhos-Neto F, Madeira M, Farias ML, Vieira Neto L. Arruda M, et al. J Bone Miner Res. 2016 Mar;31(3):657-62. doi: 10.1002/jbmr.2715. Epub 2015 Oct 20. J Bone Miner Res. 2016. PMID: 26387875 Free article.
The aim of this case study is to describe changes in areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) scan, as well as volumetric bone density and microarchitecture by high-resolution peripheral quantitative computed tomography (HR-pQCT) in two patients …
The aim of this case study is to describe changes in areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) scan, as we …
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Cleiren E, Bénichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W. Cleiren E, et al. Hum Mol Genet. 2001 Dec 1;10(25):2861-7. doi: 10.1093/hmg/10.25.2861. Hum Mol Genet. 2001. PMID: 11741829
Albers-Schonberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. ...Additionally, …
Albers-Schonberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopet …
Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.
Waguespack SG, Hui SL, White KE, Buckwalter KA, Econs MJ. Waguespack SG, et al. J Clin Endocrinol Metab. 2002 May;87(5):2212-7. doi: 10.1210/jcem.87.5.8497. J Clin Endocrinol Metab. 2002. PMID: 11994366
Autosomal dominant osteopetrosis type II (ADO2) is typically diagnosed from radiographs, which demonstrate the pathognomonic findings of osteosclerosis and endobone formation. ...From this large study of ADO2 patients and carriers, we conclude that: 1) TRAP a …
Autosomal dominant osteopetrosis type II (ADO2) is typically diagnosed from radiographs, which demonstrate the pathogno …
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