Roume J - Search Results

1

Case report: Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier.

Vialard F, Molina-Gomes D, Roume J, Podbiol A, Hirel C, Bailly M, Hammoud I, Dupont JM, de Mazancourt P, Selva J. Vialard F, et al. Among authors: roume j. Reprod Biomed Online. 2009 Apr;18(4):549-54. doi: 10.1016/s1472-6483(10)60133-2. Reprod Biomed Online. 2009. PMID: 19400998

2

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.

Nataf V, Senat MV, Albert M, Bidat L, de Mazancourt P, Roume J, Allard L, Le Tessier D, Ville Y, Selva J. Nataf V, et al. Among authors: roume j. Prenat Diagn. 2002 Aug;22(8):675-80. doi: 10.1002/pd.376. Prenat Diagn. 2002. PMID: 12210575

3

Array comparative genomic hybridization in prenatal diagnosis: another experience.

Vialard F, Molina Gomes D, Leroy B, Quarello E, Escalona A, Le Sciellour C, Serazin V, Roume J, Ville Y, de Mazancourt P, Selva J. Vialard F, et al. Among authors: roume j. Fetal Diagn Ther. 2009;25(2):277-84. doi: 10.1159/000224112. Epub 2009 Jun 11. Fetal Diagn Ther. 2009. PMID: 19521095

4

Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features.

Popowski T, Molina-Gomes D, Loeuillet L, Boukobza P, Roume J, Vialard F. Popowski T, et al. Among authors: roume j. Eur J Med Genet. 2012 Dec;55(12):723-6. doi: 10.1016/j.ejmg.2012.08.008. Epub 2012 Aug 28. Eur J Med Genet. 2012. PMID: 22982247

5

Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.

Hervé B, Roume J, Cognard S, Fauvert D, Molina-Gomes D, Vialard F. Hervé B, et al. Among authors: roume j. Eur J Med Genet. 2015 Jun-Jul;58(6-7):346-50. doi: 10.1016/j.ejmg.2015.04.005. Epub 2015 May 8. Eur J Med Genet. 2015. PMID: 25963108

6

The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome.

Hervé B, Fauvert D, Dard R, Roume J, Cognard S, Goidin D, Lozach F, Molina-Gomes D, Vialard F. Hervé B, et al. Among authors: roume j. Eur J Med Genet. 2016 Sep;59(9):463-9. doi: 10.1016/j.ejmg.2016.08.010. Epub 2016 Aug 26. Eur J Med Genet. 2016. PMID: 27568866

7

Fetal gender: antenatal discrepancy between phenotype and genotype.

Bretelle F, Salomon L, Senat MV, Vialard F, Albert M, Roume J, Ville Y. Bretelle F, et al. Among authors: roume j. Ultrasound Obstet Gynecol. 2002 Sep;20(3):286-9. doi: 10.1046/j.1469-0705.2002.00778.x. Ultrasound Obstet Gynecol. 2002. PMID: 12230454 Free article.

8

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.

Kharrat R, Yamamoto M, Roume J, Couderc S, Vialard F, Hillion Y, Ville Y. Kharrat R, et al. Among authors: roume j. Prenat Diagn. 2006 Apr;26(4):369-72. doi: 10.1002/pd.1423. Prenat Diagn. 2006. PMID: 16566042

9

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: roume j. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933

10

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y. Senat MV, et al. Among authors: roume j. Prenat Diagn. 2001 Dec;21(13):1129-32. doi: 10.1002/pd.184. Prenat Diagn. 2001. PMID: 11787037

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