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504 results

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Page 1
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. Deak KL, et al. Among authors: vekemans m. Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883837 Free PMC article.
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; National Birth Defects Prevention Study. Krupp DR, et al. Among authors: vekemans m. Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92. doi: 10.1002/bdra.23040. Epub 2012 Jul 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22806986 Free PMC article.
Human neural tube defects: developmental biology, epidemiology, and genetics.
Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Detrait ER, et al. Among authors: vekemans m. Neurotoxicol Teratol. 2005 May-Jun;27(3):515-24. doi: 10.1016/j.ntt.2004.12.007. Epub 2005 Mar 5. Neurotoxicol Teratol. 2005. PMID: 15939212 Free PMC article. Review.
Refinement of 2q and 7p loci in a large multiplex NTD family.
Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group. Stamm DS, et al. Among authors: vekemans m. Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):441-52. doi: 10.1002/bdra.20462. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18452155
Gene expression in pharyngeal arch 1 during human embryonic development.
Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M. Cai J, et al. Among authors: vekemans m. Hum Mol Genet. 2005 Apr 1;14(7):903-12. doi: 10.1093/hmg/ddi083. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703188
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Golzio C, et al. Among authors: vekemans m. Am J Hum Genet. 2007 Jun;80(6):1179-87. doi: 10.1086/518177. Epub 2007 Apr 11. Am J Hum Genet. 2007. PMID: 17503335 Free PMC article.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM. Van Der Werf CS, et al. Among authors: vekemans m. Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7. Gastroenterology. 2012. PMID: 22155368
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: vekemans m. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
504 results