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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: blank r. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377 Free PMC article.
A genomic approach to scoliosis pathogenesis.
Blank RD, Raggio CL, Giampietro PF, Camacho NP. Blank RD, et al. Lupus. 1999;8(5):356-60. doi: 10.1177/096120339900800505. Lupus. 1999. PMID: 10466862 Review.
Congenital and idiopathic scoliosis: clinical and genetic aspects.
Giampietro PF, Blank RD, Raggio CL, Merchant S, Jacobsen FS, Faciszewski T, Shukla SK, Greenlee AR, Reynolds C, Schowalter DB. Giampietro PF, et al. Among authors: blank rd. Clin Med Res. 2003 Apr;1(2):125-36. doi: 10.3121/cmr.1.2.125. Clin Med Res. 2003. PMID: 15931299 Free PMC article. Review.
An analysis of PAX1 in the development of vertebral malformations.
Giampietro PF, Raggio CL, Reynolds CE, Shukla SK, McPherson E, Ghebranious N, Jacobsen FS, Kumar V, Faciszewski T, Pauli RM, Rasmussen K, Burmester JK, Zaleski C, Merchant S, David D, Weber JL, Glurich I, Blank RD. Giampietro PF, et al. Among authors: blank rd. Clin Genet. 2005 Nov;68(5):448-53. doi: 10.1111/j.1399-0004.2005.00520.x. Clin Genet. 2005. PMID: 16207213
Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.
Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, Kislow J, Rasmussen K, Kumar V, Raggio CL, Blank RD, Jacobsen FS, Faciszewski T, Womack J, Giampietro PF. Ghebranious N, et al. Am J Med Genet A. 2006 Jun 15;140(12):1346-8. doi: 10.1002/ajmg.a.31307. Am J Med Genet A. 2006. PMID: 16691598 No abstract available.
DLL3 as a candidate gene for vertebral malformations.
Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD. Giampietro PF, et al. Am J Med Genet A. 2006 Nov 15;140(22):2447-53. doi: 10.1002/ajmg.a.31509. Am J Med Genet A. 2006. PMID: 17041936
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
Ghebranious N, Raggio CL, Blank RD, McPherson E, Burmester JK, Ivacic L, Rasmussen K, Kislow J, Glurich I, Jacobsen FS, Faciszewski T, Pauli RM, Boachie-Adjei O, Giampietro PF. Ghebranious N, et al. Scoliosis. 2007 Sep 23;2:13. doi: 10.1186/1748-7161-2-13. Scoliosis. 2007. PMID: 17888180 Free PMC article.
A missense T (Brachyury) mutation contributes to vertebral malformations.
Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF. Ghebranious N, et al. J Bone Miner Res. 2008 Oct;23(10):1576-83. doi: 10.1359/jbmr.080503. J Bone Miner Res. 2008. PMID: 18466071 Free article.
479 results