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Toward understanding the genetic basis of neural tube defects.
Kibar Z, Capra V, Gros P. Kibar Z, et al. Clin Genet. 2007 Apr;71(4):295-310. doi: 10.1111/j.1399-0004.2007.00793.x. Clin Genet. 2007. PMID: 17470131 Review.
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Kibar Z, et al. Eur J Hum Genet. 2000 May;8(5):372-80. doi: 10.1038/sj.ejhg.5200471. Eur J Hum Genet. 2000. PMID: 10854098
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. N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651. N Engl J Med. 2007. PMID: 17409324
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. Hum Mutat. 2009 Jul;30(7):E706-15. doi: 10.1002/humu.21026. Hum Mutat. 2009. PMID: 19319979 Free PMC article. Clinical Trial.
Genetic basis of neural tube defects.
Bassuk AG, Kibar Z. Bassuk AG, et al. Semin Pediatr Neurol. 2009 Sep;16(3):101-10. doi: 10.1016/j.spen.2009.06.001. Semin Pediatr Neurol. 2009. PMID: 19778707 Review.
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
Reynolds A, McDearmid JR, Lachance S, De Marco P, Merello E, Capra V, Gros P, Drapeau P, Kibar Z. Reynolds A, et al. Mech Dev. 2010 Jul-Aug;127(7-8):385-92. doi: 10.1016/j.mod.2009.12.002. Epub 2010 Jan 4. Mech Dev. 2010. PMID: 20043994 Free PMC article.
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