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Items: 15

1.

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.

2.

Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.

Schwarze U, Cundy T, Liu YJ, Hofman PL, Byers PH.

Am J Med Genet A. 2019 Aug;179(8):1466-1475. doi: 10.1002/ajmg.a.61170. Epub 2019 Jun 9.

PMID:
31179625
3.

Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.

Song Y, Zhao D, Xu X, Lv F, Li L, Jiang Y, Wang O, Xia W, Xing X, Li M.

Osteoporos Int. 2018 Jun;29(6):1389-1396. doi: 10.1007/s00198-018-4448-2. Epub 2018 Mar 9.

PMID:
29520608
4.

Novel mutation in a family with WNT1-related osteoporosis.

Panigrahi I, Didel S, Kirpal H, Bellampalli R, Miyanath S, Mullapudi N, Rao S.

Eur J Med Genet. 2018 Jul;61(7):369-371. doi: 10.1016/j.ejmg.2018.01.017. Epub 2018 Feb 23.

PMID:
29481978
5.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.

Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.

6.

Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.

Quist EM, Doan R, Pool RR, Porter BF, Bannasch DL, Dindot SV.

J Hered. 2018 Mar 16;109(3):308-314. doi: 10.1093/jhered/esx074.

PMID:
29036614
7.

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.

Barbirato C, Trancozo M, Rebou├žas MR, Sipolatti V, Nunes VR, Paula F.

Genet Mol Res. 2016 Sep 2;15(3). doi: 10.4238/gmr.15038665.

PMID:
27706701
8.

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.

Marshall C, Lopez J, Crookes L, Pollitt RC, Balasubramanian M.

Gene. 2016 Dec 20;595(1):49-52. doi: 10.1016/j.gene.2016.09.035. Epub 2016 Sep 25.

9.

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

Lindert U, Weis MA, Rai J, Seeliger F, Hausser I, Leeb T, Eyre D, Rohrbach M, Giunta C.

J Biol Chem. 2015 Jul 17;290(29):17679-89. doi: 10.1074/jbc.M115.661025. Epub 2015 May 24.

10.

Comparative proteomic analysis of hypertrophic chondrocytes in osteoarthritis.

Tsolis KC, Bei ES, Papathanasiou I, Kostopoulou F, Gkretsi V, Kalantzaki K, Malizos K, Zervakis M, Tsezou A, Economou A.

Clin Proteomics. 2015 Apr 25;12(1):12. doi: 10.1186/s12014-015-9085-6. eCollection 2015.

11.

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
12.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH.

Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4.

13.

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.

14.

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. Epub 2011 May 12.

PMID:
21567925
15.

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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