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Items: 1 to 20 of 27

1.

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A.

J Bone Miner Res. 2003 Oct;18(10):1740-7.

2.

Osteopetrosis.

Stark Z, Savarirayan R.

Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Review.

3.

CLCN7-Related Osteopetrosis.

de Vernejoul MC, Schulz A, Kornak U.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2007 Feb 12 [updated 2013 Jun 20].

4.

Neurological aspects of osteopetrosis.

Steward CG.

Neuropathol Appl Neurobiol. 2003 Apr;29(2):87-97. Review.

PMID:
12662317
5.

Human osteopetroses and the osteoclast V-H+-ATPase enzyme system.

Ogbureke KU, Zhao Q, Li YP.

Front Biosci. 2005 Sep 1;10:2940-54. Review.

PMID:
15970548
6.

Human osteopetrosis and other sclerosing disorders: recent genetic developments.

de Vernejoul MC, Bénichou O.

Calcif Tissue Int. 2001 Jul;69(1):1-6. Epub 2001 Jun 5. Review.

PMID:
11685426
7.

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.

Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C.

Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12. Review.

PMID:
19082854
8.

Genetics, pathogenesis and complications of osteopetrosis.

Del Fattore A, Cappariello A, Teti A.

Bone. 2008 Jan;42(1):19-29. Epub 2007 Aug 30. Review.

PMID:
17936098
9.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
10.

Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.

Aggarwal S.

Gene. 2013 Oct 1;528(1):41-5. doi: 10.1016/j.gene.2013.04.069. Epub 2013 May 5. Review.

PMID:
23657117
11.

Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis.

Abbaszadegan MR, Modarresi A, Khadivi-Zand F, Velayati A.

Saudi Med J. 2008 Oct;29(10):1494-6. Review.

PMID:
18946580
12.

[Osteopetrosis, from mouse to man].

Blin-Wakkach C, Bernard F, Carle GF.

Med Sci (Paris). 2004 Jan;20(1):61-7. Review. French.

13.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
14.

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH.

Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23. Review.

PMID:
23877423
15.

Recent developments in the understanding of the pathophysiology of osteopetrosis.

Felix R, Hofstetter W, Cecchini MG.

Eur J Endocrinol. 1996 Feb;134(2):143-56. Review.

PMID:
8630510
16.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
17.

Autosomal-dominant osteopetrosis: an incidental finding.

Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC.

Indian J Dent Res. 2010 Oct-Dec;21(4):611-4. doi: 10.4103/0970-9290.74234. Review.

18.

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.

Stark Z, Pangrazio A, McGillivray G, Fink AM.

Eur J Med Genet. 2013 Jan;56(1):36-8. doi: 10.1016/j.ejmg.2012.10.001. Epub 2012 Oct 17. Review.

PMID:
23085203
19.

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M.

Hum Mutat. 2002 Apr;19(4):423-34. Review.

PMID:
11933197
20.

Autosomal dominant osteopetrosis revisited: lessons from recent studies.

Bollerslev J, Henriksen K, Nielsen MF, Brixen K, Van Hul W.

Eur J Endocrinol. 2013 Jul 13;169(2):R39-57. doi: 10.1530/EJE-13-0136. Print 2013 Aug. Review.

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