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Items: 1 to 20 of 114

1.

Recent advances in osteogenesis imperfecta.

Cundy T.

Calcif Tissue Int. 2012 Jun;90(6):439-49. doi: 10.1007/s00223-012-9588-3. Review.

PMID:
22451222
2.

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

Basel D, Steiner RD.

Genet Med. 2009 Jun;11(6):375-85. doi: 10.1097/GIM.0b013e3181a1ff7b. Review.

PMID:
19533842
3.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE.

Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Erratum in: Hum Mol Genet. 2009 May 15;18(10):1893-5.

4.

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].

Hasegawa K.

Clin Calcium. 2010 Aug;20(8):1190-5. doi: CliCa100811901195. Review. Japanese.

PMID:
20675929
5.

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH.

Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6.

PMID:
21239989
6.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

7.

Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.

Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L.

Pediatr Endocrinol Rev. 2006 Sep;4(1):40-6. Review.

PMID:
17021582
8.

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A.

J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729.

PMID:
19088120
9.

Recessively inherited forms of osteogenesis imperfecta.

Byers PH, Pyott SM.

Annu Rev Genet. 2012;46:475-97. doi: 10.1146/annurev-genet-110711-155608. Review.

PMID:
23145505
10.

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Marini JC, Cabral WA, Barnes AM.

Cell Tissue Res. 2010 Jan;339(1):59-70. doi: 10.1007/s00441-009-0872-0. Review.

11.
12.

A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta.

Barbirato C, Almeida MG, Milanez M, Sipolatti V, Rebouças MR, Akel AN Jr, Nunes VR, Perrone AM, Zatz M, Louro ID, Paula F.

Genet Mol Res. 2009 Feb 17;8(1):173-8.

PMID:
19283684
13.

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.

Barbirato C, Trancozo M, Almeida MG, Almeida LS, Santos TO, Duarte JC, Rebouças MR, Sipolatti V, Nunes VR, Paula F.

Genet Mol Res. 2015 Dec 3;14(4):15848-58. doi: 10.4238/2015.December.1.36.

14.

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.

Venturi G, Monti E, Dalle Carbonare L, Corradi M, Gandini A, Valenti MT, Boner A, Antoniazzi F.

Bone. 2012 Jan;50(1):343-9. doi: 10.1016/j.bone.2011.10.023.

PMID:
22061863
15.

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC.

N Engl J Med. 2006 Dec 28;355(26):2757-64.

16.

Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.

Michou L, Brown JP.

Joint Bone Spine. 2011 May;78(3):252-8. doi: 10.1016/j.jbspin.2010.07.010. Review.

PMID:
20855225
17.

Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta.

Rauch F, Lalic L, Roughley P, Glorieux FH.

J Bone Miner Res. 2010 Jun;25(6):1367-74. doi: 10.1359/jbmr.091109.

18.

Osteogenesis imperfecta.

Huber MA.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):314-20.

PMID:
17223585
19.

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ.

Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998.

PMID:
21567925
20.

[Oesteogenesis imperfecta--genetics, diagnosis and medical treatment].

Brixen KT, Illum NO, Hansen B, Lund AM, Mosekilde L.

Ugeskr Laeger. 2007 Jan 1;169(1):30-4. Review. Danish.

PMID:
17217883
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