Le Tessier D - Search Results

1

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Dodé C, et al. Among authors: le tessier d. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230

2

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

3

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

4

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

5

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

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

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

8

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

9

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.

10

Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis.

Kerjean A, Dupont JM, Vasseur C, Le Tessier D, Cuisset L, Pàldi A, Jouannet P, Jeanpierre M. Kerjean A, et al. Among authors: le tessier d. Hum Mol Genet. 2000 Sep 1;9(14):2183-7. doi: 10.1093/hmg/9.14.2183. Hum Mol Genet. 2000. PMID: 10958657

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