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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
[Smith-Lemli-Opitz syndrome].
Pelluard-Nehmé F, Carles D, Alberti EM, Saura R, Wong C, Wolf C. Pelluard-Nehmé F, et al. Among authors: saura r. Ann Pathol. 2005 Sep;25(4):318-21. doi: 10.1016/s0242-6498(05)80136-1. Ann Pathol. 2005. PMID: 16327658 French.
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.
Fetal presentation of PHACES syndrome.
Carles D, Pelluard F, Alberti EM, Maugey-Laulom B, Lin TY, Saura R, Roux D, Lacombe D. Carles D, et al. Among authors: saura r. Am J Med Genet A. 2005 Jan 1;132A(1):110. doi: 10.1002/ajmg.a.30367. Am J Med Genet A. 2005. PMID: 15551334 No abstract available.
166 results