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Items: 12

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.

Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up.

Santana A, Oleas-Santillán G, Franzone JM, Nichols LR, Bowen JR, Kruse RW.

Case Rep Orthop. 2019 Mar 13;2019:8014038. doi: 10.1155/2019/8014038. eCollection 2019.

3.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E.

J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4.

4.

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.

Lv F, Xu X, Song Y, Li L, Asan, Wang J, Yang H, Wang O, Jiang Y, Xia W, Xing X, Li M.

Calcif Tissue Int. 2018 Mar;102(3):296-309. doi: 10.1007/s00223-017-0360-6. Epub 2017 Nov 24.

PMID:
29177700
5.

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.

6.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ.

J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24.

7.

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
8.

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.

9.

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.

10.

Differential effects of homocysteine and beta aminopropionitrile on preosteoblastic MC3T3-E1 cells.

Thaler R, Spitzer S, Rumpler M, Fratzl-Zelman N, Klaushofer K, Paschalis EP, Varga F.

Bone. 2010 Mar;46(3):703-9. doi: 10.1016/j.bone.2009.10.038. Epub 2009 Nov 4.

PMID:
19895920
12.

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L.

Am J Med Genet A. 2004 Dec 1;131(2):115-20.

PMID:
15523624

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