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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 …
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D, Haque SK. Batlle D, et al. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Nephrol Dial Transplant. 2012. PMID: 23114896 Review.
Mutations in the gene encoding the cytosolic CA II are associated with the autosomal recessive syndrome of osteopetrosis, mixed distal and proximal RTA and cerebral calcification. Mutations in the AE1, the gene that encodes the Cl(-)/HCO(3)(-) exchanger, usua …
Mutations in the gene encoding the cytosolic CA II are associated with the autosomal recessive syndrome of osteopetrosis, mixe …
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
Rodríguez-Soriano J. Rodríguez-Soriano J. Pediatr Nephrol. 2000 Oct;14(12):1121-36. doi: 10.1007/s004670000407. Pediatr Nephrol. 2000. PMID: 11045400 Review.
On these grounds, RTA has been separated into three main categories: (1) proximal RTA, or type 2; (2) distal RTA, or type 1; and (3) hyperkalemic RTA, or type 4. In recent years significant advances have been made in our understanding of the subcellular mechanisms involved …
On these grounds, RTA has been separated into three main categories: (1) proximal RTA, or type 2; (2) distal RTA, or type 1; and (3) …
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 …
UNIQUE PRESENTATION OF OSTEOPETROSIS.
Dharamshi HA, Ahmed SA, Mohsin AA, Mustahsan SM, Devi R, Iqbal A, Abidi SM. Dharamshi HA, et al. J Ayub Med Coll Abbottabad. 2016 Jan-Mar;28(1):191-3. J Ayub Med Coll Abbottabad. 2016. PMID: 27323593
It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the most grievous forms of its inheritance are the autosomal-recessive ones, which show early onset and are associated with very poor progno …
It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the mos …
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV. Piret SE, et al. Am J Med Genet A. 2016 Nov;170(11):2988-2992. doi: 10.1002/ajmg.a.37755. Epub 2016 Aug 19. Am J Med Genet A. 2016. PMID: 27540713 Free PMC article.
The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previo …
The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant …
Osteopetrosis in two siblings: two case reports.
Yadav S, Chalise S, Chaudhary S, Shah GS, Gupta MK, Mishra OP. Yadav S, et al. BMC Res Notes. 2016 Jan 29;9:55. doi: 10.1186/s13104-016-1869-x. BMC Res Notes. 2016. PMID: 26825064 Free PMC article.
A rare autosomal recessive (intermediate) form is present during childhood with some signs and symptoms of malignant osteopetrosis. ...We extended our investigations and radiological survey revealed generalized increase in bone density which was consistent with o …
A rare autosomal recessive (intermediate) form is present during childhood with some signs and symptoms of malignant osteopetrosis …
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 …
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL. Wang C, et al. J Bone Miner Metab. 2012 May;30(3):338-48. doi: 10.1007/s00774-011-0319-z. Epub 2011 Sep 28. J Bone Miner Metab. 2012. PMID: 21947783
Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional defect in osteoclasts. ...Among 12 unrelated families, 10 families were diagnosed with autosomal dominant osteopetrosis type II (ADOII) with 10 probands and 3 …
Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional defect in osteoclasts. ...Among 12 unrelate …
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