Saura R - Search Results

1

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Toutain J, Taine L, Morice-Picard F, Hallal H, Dai ZQ, Arveiler B, Lacombe D, Horovitz J, Saura R. Toutain J, et al. Among authors: saura r. Eur J Med Genet. 2011 May-Jun;54(3):292-4. doi: 10.1016/j.ejmg.2010.12.005. Epub 2011 Jan 5. Eur J Med Genet. 2011. PMID: 21215339

2

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Rooryck C, VuPhi Y, Souakri N, Burgelin I, Saura R, Lacombe D, Arveiler B, Taine L. Rooryck C, et al. Among authors: saura r. Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132917

3

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.

4

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: saura r. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

5

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Lacombe D, Saura R, Taine L, Battin J. Lacombe D, et al. Among authors: saura r. Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134. Am J Med Genet. 1992. PMID: 1519642

6

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

7

Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication.

Toutain J, Lemaire-Coustel MA, Begorre M, Montaubin O, Soler G, Taine L, Horovitz J, Saura R. Toutain J, et al. Among authors: saura r. Fetal Diagn Ther. 2012;31(2):115-21. doi: 10.1159/000334067. Epub 2012 Jan 31. Fetal Diagn Ther. 2012. PMID: 22301792

8

Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.

Toutain J, Prochazkova-Carlotti M, Cappellen D, Jarne A, Chevret E, Ferrer J, Idrissi Y, Pelluard F, Carles D, Maugey-Laulon B, Lacombe D, Horovitz J, Merlio JP, Saura R. Toutain J, et al. Among authors: saura r. PLoS One. 2013;8(1):e54013. doi: 10.1371/journal.pone.0054013. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326560 Free PMC article.

9

Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes.

Toutain J, Horovitz J, Saura R. Toutain J, et al. Among authors: saura r. Genet Med. 2020 Feb;22(2):446-447. doi: 10.1038/s41436-019-0664-1. Epub 2019 Oct 1. Genet Med. 2020. PMID: 31570802 Free article. No abstract available.

10

18p monosomy with midline defects and a de novo satellite identified by FISH.

Taine L, Goizet C, Wen ZQ, Chateil JF, Battin J, Saura R, Lacombe D. Taine L, et al. Among authors: saura r. Ann Genet. 1997;40(3):158-63. Ann Genet. 1997. PMID: 9401105

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