Portnoï MF - Search Results

1

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoï MF, Moirot H, Mattei MG. Vialard F, et al. Among authors: portnoi mf. Am J Med Genet A. 2003 Apr 30;118A(3):229-34. doi: 10.1002/ajmg.a.10164. Am J Med Genet A. 2003. PMID: 12673652

2

Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature.

Vialard F, Nouchy M, Malan V, Taillemite JL, Selva J, Portnoï MF. Vialard F, et al. Among authors: portnoi mf. Fertil Steril. 2006 Oct;86(4):1001.e1-5. doi: 10.1016/j.fertnstert.2006.01.061. Fertil Steril. 2006. PMID: 17027365 Free article. Review.

3

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. Portnoï MF, et al. Am J Med Genet A. 2005 Aug 15;137(1):47-51. doi: 10.1002/ajmg.a.30847. Am J Med Genet A. 2005. PMID: 16007629 Review.

4

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Sanlaville D, et al. Among authors: portnoi mf. Am J Med Genet A. 2004 Jul 30;128A(3):325-30. doi: 10.1002/ajmg.a.30115. Am J Med Genet A. 2004. PMID: 15216557

5

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M. Poirsier C, et al. Among authors: portnoi mf. Eur J Hum Genet. 2016 Jun;24(6):844-51. doi: 10.1038/ejhg.2015.219. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508576 Free PMC article.

6

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF. Gruchy N, et al. Among authors: portnoi mf. Am J Med Genet A. 2007 Oct 15;143A(20):2417-22. doi: 10.1002/ajmg.a.31931. Am J Med Genet A. 2007. PMID: 17853488

7

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF. Beaujard MP, et al. Among authors: portnoi mf. Eur J Med Genet. 2009 Sep-Oct;52(5):321-7. doi: 10.1016/j.ejmg.2009.05.010. Epub 2009 May 23. Eur J Med Genet. 2009. PMID: 19467348

8

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.

Portnoï MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, Frydman R, Reyss AC, Brisset S, Christin-Maitre S. Portnoï MF, et al. Hum Reprod. 2006 Sep;21(9):2329-34. doi: 10.1093/humrep/del174. Epub 2006 Jun 3. Hum Reprod. 2006. PMID: 16751643

9

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S. Vibert R, et al. Among authors: portnoi mf. Clin Genet. 2022 Mar;101(3):307-316. doi: 10.1111/cge.14096. Epub 2021 Dec 15. Clin Genet. 2022. PMID: 34866188

10

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP. Schwartz M, et al. Among authors: portnoi mf. Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130637

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