Pipiras E - Search Results

1

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E. Dupont C, et al. Among authors: pipiras e. Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. Am J Med Genet A. 2008. PMID: 18925677 No abstract available.

2

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. Dupont C, et al. Among authors: pipiras e. Eur J Hum Genet. 2003 Jun;11(6):452-6. doi: 10.1038/sj.ejhg.5200984. Eur J Hum Genet. 2003. PMID: 12774038

3

Structural chromosomal mosaicism and prenatal diagnosis.

Pipiras E, Dupont C, Chantot-Bastaraud S, Siffroi JP, Bucourt M, Batallan A, Largillière C, Uzan M, Wolf JP, Benzacken B. Pipiras E, et al. Prenat Diagn. 2004 Feb;24(2):101-3. doi: 10.1002/pd.797. Prenat Diagn. 2004. PMID: 14974115

4

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B. Chantot-Bastaraud S, et al. Among authors: pipiras e. Ann Genet. 2004 Jul-Sep;47(3):241-9. doi: 10.1016/j.anngen.2004.02.003. Ann Genet. 2004. PMID: 15337469 Review.

5

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report.

Malan V, Pipiras E, Sifer C, Kanafani S, Cedrin-Durnerin I, Martin-Pont B, Hugues JN, Wolf JP, Benzacken B. Malan V, et al. Among authors: pipiras e. Hum Reprod. 2006 Aug;21(8):2052-6. doi: 10.1093/humrep/del090. Epub 2006 Apr 3. Hum Reprod. 2006. PMID: 16585123

6

Retrospective diagnosis of Pallister-Killian syndrome by CGH array.

Delahaye A, Pipiras E, Delorme-Vincent C, Benkhalifa M, Kasakyan S, Devisme L, Wolf JP, Benzacken B. Delahaye A, et al. Among authors: pipiras e. Fetal Diagn Ther. 2006;21(6):485-8. doi: 10.1159/000095658. Epub 2006 Sep 12. Fetal Diagn Ther. 2006. PMID: 16969000

7

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

Cohen D, Martel C, Wilson A, Déchambre N, Amy C, Duverger L, Guile JM, Pipiras E, Benzacken B, Cavé H, Cohen L, Héron D, Plaza M. Cohen D, et al. Among authors: pipiras e. J Autism Dev Disord. 2007 Sep;37(8):1585-91. doi: 10.1007/s10803-006-0228-5. Epub 2006 Sep 28. J Autism Dev Disord. 2007. PMID: 17006777

8

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.

Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largillière C, Garel C, Gressens P, Bucourt M, Cedrin-Durnerin I, Lachassinne E, Roumegoux C, Uzan M, Hugues JN, Wolf JP, Benzacken B. Kanafani S, et al. Among authors: pipiras e. Prenat Diagn. 2007 Mar;27(3):279-84. doi: 10.1002/pd.1639. Prenat Diagn. 2007. PMID: 17269127

9

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.

Delahaye A, Pipiras E, Kanafani S, Touboul C, Vergnaud A, Encha-Razavi F, Sinico M, Benkhalifa M, Kasakyan S, Serero S, Wolf JP, Gérard-Blanluet M, Benzacken B. Delahaye A, et al. Among authors: pipiras e. Fetal Diagn Ther. 2007;22(4):306-12. doi: 10.1159/000100797. Epub 2007 Mar 15. Fetal Diagn Ther. 2007. PMID: 17361086

10

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening.

Gerard-Blanluet M, Pipiras E, Levaillant JM, Joye N, Koubi V, Kanafani S, Vergnaud A, Verloes A, Gonzales M, Jeny R, Benzacken B. Gerard-Blanluet M, et al. Among authors: pipiras e. Prenat Diagn. 2007 Nov;27(11):1062-3. doi: 10.1002/pd.1818. Prenat Diagn. 2007. PMID: 17705236 No abstract available.

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