Dupont JM - Search Results

1

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: dupont jm. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593

2

Pure familial 6q21q22.1 duplication in two generations.

Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM. Pazooki M, et al. Among authors: dupont jm. Eur J Med Genet. 2007 Jan-Feb;50(1):60-5. doi: 10.1016/j.ejmg.2006.09.002. Epub 2006 Sep 28. Eur J Med Genet. 2007. PMID: 17071147

3

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM. Dupont C, et al. Among authors: dupont jm. Am J Med Genet A. 2007 Jun 1;143A(11):1236-43. doi: 10.1002/ajmg.a.31744. Am J Med Genet A. 2007. PMID: 17497716

4

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

Lebbar A, Callier P, Baverel F, Marle N, Patrat C, Le Tessier D, Mugneret F, Dupont JM. Lebbar A, et al. Among authors: dupont jm. Am J Med Genet A. 2008 Oct 15;146A(20):2651-6. doi: 10.1002/ajmg.a.32499. Am J Med Genet A. 2008. PMID: 18798330

5

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM. Leclercq S, et al. Among authors: dupont jm. Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640. Am J Med Genet A. 2009. PMID: 19206177

6

Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

Leclercq S, Auger J, Dupont C, Le Tessier D, Lebbar A, Baverel F, Dupont JM, Eustache F. Leclercq S, et al. Among authors: dupont jm, dupont c. Eur J Med Genet. 2010 May-Jun;53(3):127-32. doi: 10.1016/j.ejmg.2010.03.003. Epub 2010 Mar 17. Eur J Med Genet. 2010. PMID: 20302980

7

First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

Abdelhedi F, Corcos J, Cuisset L, Tsatsaris V, Tantau J, Le Tessier D, Lebbar A, Dupont JM. Abdelhedi F, et al. Among authors: dupont jm. Am J Med Genet A. 2012 Mar;158A(3):617-21. doi: 10.1002/ajmg.a.34416. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302515

8

Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.

Tuţulan-Cuniţă AC, Budişteanu M, Papuc SM, Dupont JM, Blancho D, Lebbar A, Viot G, Lungeanu A, Arghir A. Tuţulan-Cuniţă AC, et al. Among authors: dupont jm. Psychiatry Res. 2012 May 30;197(3):356-7. doi: 10.1016/j.psychres.2011.11.016. Epub 2012 Feb 22. Psychiatry Res. 2012. PMID: 22365273

9

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: dupont jm. Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715584

10

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Abdelhedi F, El Khattabi L, Cuisset L, Tsatsaris V, Viot G, Druart L, Lebbar A, Dupont JM. Abdelhedi F, et al. Among authors: dupont jm. Am J Clin Pathol. 2014 Aug;142(2):248-53. doi: 10.1309/AJCPBLMPRXKU1JUE. Am J Clin Pathol. 2014. PMID: 25015868

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