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Page 1
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: capra v. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583 Free PMC article.
Folate pathway gene alterations in patients with neural tube defects.
De Marco P, Moroni A, Merello E, de Franchis R, Andreussi L, Finnell RH, Barber RC, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Am J Med Genet. 2000 Nov 27;95(3):216-23. doi: 10.1002/1096-8628(20001127)95:3<216::aid-ajmg6>3.0.co;2-f. Am J Med Genet. 2000. PMID: 11102926
Mutations in VANGL1 associated with neural-tube defects.
Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P. Kibar Z, et al. Among authors: capra v. N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651. N Engl J Med. 2007. PMID: 17409324 Free article.
Novel mutations in VANGL1 in neural tube defects.
Kibar Z, Bosoi CM, Kooistra M, Salem S, Finnell RH, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Kibar Z, et al. Among authors: capra v. Hum Mutat. 2009 Jul;30(7):E706-15. doi: 10.1002/humu.21026. Hum Mutat. 2009. PMID: 19319979 Free PMC article.
Contribution of VANGL2 mutations to isolated neural tube defects.
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Kibar Z, et al. Among authors: capra v. Clin Genet. 2011 Jul;80(1):76-82. doi: 10.1111/j.1399-0004.2010.01515.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738329 Free PMC article.
273 results