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Items: 9

1.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S, Gottesman GS, Wenkert D, Campeau PM, Nenninger A, Huskey M, Bijanki VN, Veis DJ, Barnes AM, Marini JC, Stolina M, Zhang F, McAlister WH, Whyte MP.

Bone. 2019 Aug 28:115047. doi: 10.1016/j.bone.2019.115047. [Epub ahead of print]

PMID:
31472299
2.

Osteogenesis imperfecta in Brazilian patients.

Trancozo M, Moraes MVD, Silva DA, Soares JAM, Barbirato C, Almeida MG, Santos LR, Rebou├žas MRGO, Akel AN Jr, Sipolatti V, Nunes VRR, Errera FIV, Aguena M, Passos-Bueno MR, Paula F.

Genet Mol Biol. 2019 Apr-Jun;42(2):344-350. doi: 10.1590/1678-4685-GMB-2018-0043. Epub 2019 Aug 15.

3.

Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.

Jiang Y, Pan J, Guo D, Zhang W, Xie J, Fang Z, Guo C, Fang Q, Jiang W, Guo Y.

Clin Chim Acta. 2017 Jun;469:111-118. doi: 10.1016/j.cca.2017.02.019. Epub 2017 Feb 27.

PMID:
28242392
4.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

5.

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.

6.

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F.

Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14.

PMID:
24835313
7.

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.

Rush ET, Caldwell KS, Kreikemeier RM, Lutz RE, Esposito PW.

J Pediatr Genet. 2014 Mar;3(1):29-34. doi: 10.3233/PGE-14080.

8.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G.

Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10.

9.

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH.

Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25.

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