Le Tessier D - Search Results

1

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont JM. Milosevic J, et al. Among authors: le tessier d. Am J Med Genet A. 2014 Dec;164A(12):3180-6. doi: 10.1002/ajmg.a.36777. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257167

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. 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: le tessier d. 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

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: le tessier d. 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

5

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

Abdelhedi F, El Khattabi L, Essid N, Viot G, Letessier D, Lebbar A, Dupont JM. Abdelhedi F, et al. Am J Med Genet A. 2016 Jul;170(7):1912-7. doi: 10.1002/ajmg.a.37686. Epub 2016 Apr 27. Am J Med Genet A. 2016. PMID: 27119754

6

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M. Dupont JM, et al. Among authors: le tessier d. Am J Med Genet. 2002 Sep 1;111(4):405-8. doi: 10.1002/ajmg.10570. Am J Med Genet. 2002. PMID: 12210300

7

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: le tessier d. 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

8

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: le tessier d. 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

9

Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.

Leclercq S, Lebbar A, Grange G, Tsatsaris V, Le Tessier D, Dupont JM. Leclercq S, et al. Among authors: le tessier d. Prenat Diagn. 2008 Apr;28(4):313-8. doi: 10.1002/pd.1959. Prenat Diagn. 2008. PMID: 18306148

10

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

Dupont JM, Le Tessier D, Baverel F, Rouffet A, Rabineau D. Dupont JM, et al. Among authors: le tessier d. Fetal Diagn Ther. 1997 Sep-Oct;12(5):283-5. doi: 10.1159/000264486. Fetal Diagn Ther. 1997. PMID: 9430209 Review.

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