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Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study.
Candito M, Rivet R, Herbeth B, Boisson C, Rudigoz RC, Luton D, Journel H, Oury JF, Roux F, Saura R, Vernhet I, Gaucherand P, Muller F, Guidicelli B, Heckenroth H, Poulain P, Blayau M, Francannet C, Roszyk L, Brustié C, Staccini P, Gérard P, Fillion-Emery N, Guéant-Rodriguez RM, Van Obberghen E, Guéant JL. Candito M, et al. Among authors: saura r. Am J Med Genet A. 2008 May 1;146A(9):1128-33. doi: 10.1002/ajmg.a.32199. Am J Med Genet A. 2008. PMID: 18386810
Prenatal diagnosis using array-CGH: a French experience.
Rooryck C, Toutain J, Cailley D, Bouron J, Horovitz J, Lacombe D, Arveiler B, Saura R. Rooryck C, et al. Among authors: saura r. Eur J Med Genet. 2013 Jul;56(7):341-5. doi: 10.1016/j.ejmg.2013.02.003. Epub 2013 Feb 20. Eur J Med Genet. 2013. PMID: 23454632 Clinical Trial.
Donnai-Barrow syndrome: four additional patients.
Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: saura r. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L. Vu PY, et al. Among authors: saura r. Am J Med Genet A. 2012 Nov;158A(11):2849-56. doi: 10.1002/ajmg.a.35694. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034868
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Reboul MP, et al. Among authors: saura r. Clin Genet. 2006 Sep;70(3):207-13. doi: 10.1111/j.1399-0004.2006.00664.x. Clin Genet. 2006. PMID: 16922723
166 results