Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 111

1.

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
2.

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.

3.

Lethal osteopetrosis with multiple fractures in utero.

el Khazen N, Faverly D, Vamos E, Van Regemorter N, Flament-Durand J, Carton B, Cremer-Perlmutter N.

Am J Med Genet. 1986 Mar;23(3):811-9.

PMID:
3513575
4.

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U.

Indian J Med Res. 2010 Apr;131:508-14.

5.

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

Besbas N, Draaken M, Ludwig M, Deren O, Orhan D, Bilginer Y, Ozaltin F.

Eur J Pediatr. 2009 Dec;168(12):1449-54. doi: 10.1007/s00431-009-0945-9. Epub 2009 Feb 24.

PMID:
19238435
6.

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, Rucci F, Lucchini F, Ravanini M, Facchetti F, Abinun M, Vezzoni P, Villa A, Frattini A.

J Bone Miner Res. 2006 Jul;21(7):1098-105.

7.

Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.

Rees H, Ang LC, Casey R, George DH.

Pediatr Neurosurg. 1995;22(6):321-7. Review.

PMID:
7577667
8.

Autosomal recessive osteopetrosis in Arab children.

Abdel-Al YK, Shabani IS, Lubani MM, al-Ghawabi MA, Ibrahim MD, al-Mohtaseb S, Duodin KI.

Ann Trop Paediatr. 1994;14(1):59-64.

PMID:
7516136
9.

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F.

Mol Med Rep. 2014 Apr;9(4):1191-6. doi: 10.3892/mmr.2014.1955. Epub 2014 Feb 17.

PMID:
24535484
11.

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.

Rashid BM, Rashid NG, Schulz A, Lahr G, Nore BF.

J Med Case Rep. 2013 Jan 9;7:7. doi: 10.1186/1752-1947-7-7.

12.

Prenatal diagnosis of autosomal recessive polycystic kidney disease. A case report.

Mine K, Suzuki S, Watanabe S, Sawa R, Yoneyama Y, Asakura H, Araki T.

Nihon Ika Daigaku Zasshi. 1999 Jun;66(3):188-90.

13.

Cranial MR imaging of osteopetrosis.

Curé JK, Key LL, Goltra DD, VanTassel P.

AJNR Am J Neuroradiol. 2000 Jun-Jul;21(6):1110-5.

14.

A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.

Al-Aama JY, Dabbagh AA, Edrees AY.

Clin Dysmorphol. 2012 Jan;21(1):1-7. doi: 10.1097/MCD.0b013e32834af585.

PMID:
21946807
15.

Antenatal diagnosis of lethal osteopetrosis.

Sen C, Madazli R, Aksoy F, Ocak V.

Ultrasound Obstet Gynecol. 1995 Apr;5(4):278-80.

17.

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Mégarbané A.

Eur J Med Genet. 2007 May-Jun;50(3):188-99. Epub 2007 Feb 21.

PMID:
17400532
18.

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C.

Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 Oct 31.

PMID:
23123320
19.

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.

20.

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C.

J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849.

Supplemental Content

Support Center