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Items: 1 to 20 of 178

1.

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM.

Fetal Pediatr Pathol. 2013 Oct;32(5):319-25. doi: 10.3109/15513815.2012.754528. Epub 2013 Jan 10.

2.

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. Epub 2008 Dec 16.

PMID:
19088120
3.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.

Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.

4.

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
5.

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

van Dijk FS, Nikkels PG, den Hollander NS, Nesbitt IM, van Rijn RR, Cobben JM, Pals G.

Pediatr Dev Pathol. 2011 May-Jun;14(3):228-34. doi: 10.2350/10-03-0806-CR.1. Epub 2010 Oct 14.

PMID:
20946018
6.

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ.

J Bone Miner Metab. 2012 Jan;30(1):69-77. doi: 10.1007/s00774-011-0284-6. Epub 2011 Jun 14.

PMID:
21667357
7.

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. Epub 2009 Oct 28. Review.

8.

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.

J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

9.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC.

Nat Genet. 2007 Mar;39(3):359-65. Epub 2007 Feb 4. Erratum in: Nat Genet. 2008 Jul;40(7):927.

PMID:
17277775
10.

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

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

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

11.

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.

Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC.

Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26.

12.

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. Epub 2008 Nov 7. Erratum in: Hum Mol Genet. 2009 May 15;18(10):1893-5.

13.

[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
14.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH.

Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31.

15.

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
16.

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.

Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC.

Hum Mol Genet. 2010 Jan 15;19(2):223-34. doi: 10.1093/hmg/ddp481. Epub 2009 Oct 21.

17.

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC.

J Clin Endocrinol Metab. 2016 Sep;101(9):3516-25. doi: 10.1210/jc.2016-1334. Epub 2016 Jul 6.

18.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS.

J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142.

PMID:
23054245
19.

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. Epub 2010 Sep 19. Review.

PMID:
20855225
20.

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G.

Ned Tijdschr Geneeskd. 2012;156(21):A4585. Review. Dutch.

PMID:
22617071

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