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Results: 1 to 20 of 105

1.

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
[PubMed - indexed for MEDLINE]
2.

An SNX10 mutation causes malignant osteopetrosis of infancy.

Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O.

J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520.

PMID:
22499339
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
23280965
[PubMed - indexed for MEDLINE]
4.

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A.

Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015.

PMID:
18606301
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.

J Med Genet. 2003 Feb;40(2):115-21.

PMID:
12566520
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

Ben Hamouda H, Sfar MN, Braham R, Ben Salah M, Ayadi A, Soua H, Hamza H, Sfar MT.

Acta Orthop Belg. 2001 Dec;67(5):528-32.

PMID:
11822087
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

A mild autosomal recessive form of osteopetrosis.

Kahler SG, Burns JA, Aylsworth AS.

Am J Med Genet. 1984 Feb;17(2):451-64.

PMID:
6702897
[PubMed - indexed for MEDLINE]
9.

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA.

Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Review.

PMID:
24194475
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.

Bitoun P, Pipiras E, Rigaudiere F.

Ophthalmic Genet. 2012 Mar;33(1):39-43. doi: 10.3109/13816810.2011.596892. Epub 2011 Aug 11.

PMID:
21834622
[PubMed - indexed for MEDLINE]
14.

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO.

Genet Couns. 2013;24(3):283-9.

PMID:
24341143
[PubMed - indexed for MEDLINE]
15.

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS.

Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.

PMID:
20971220
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR.

Hum Mol Genet. 1998 Sep;7(9):1407-10.

PMID:
9700194
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

Lam CW, Tong SF, Wong K, Luo YF, Tang HY, Ha SY, Chan MH.

J Hum Genet. 2007;52(1):98-101. Epub 2006 Oct 11.

PMID:
17033731
[PubMed - indexed for MEDLINE]
19.

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

Ott CE, Fischer B, Schröter P, Richter R, Gupta N, Verma N, Kabra M, Mundlos S, Rajab A, Neitzel H, Kornak U.

Bone. 2013 Aug;55(2):292-7. doi: 10.1016/j.bone.2013.04.007. Epub 2013 Apr 17.

PMID:
23685543
[PubMed - indexed for MEDLINE]
20.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.

BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121.

PMID:
20696082
[PubMed - indexed for MEDLINE]
Free PMC Article

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