Cuisset L - Search Results

1

Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome.

Dupont JM, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit MF. Dupont JM, et al. Among authors: cuisset l. J Med Genet. 1999 Aug;36(8):652-4. J Med Genet. 1999. PMID: 10465123 Free PMC article. No abstract available.

2

Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis.

Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Noséda G, Ponsot G. Cuisset L, et al. Am J Med Genet. 1998 Dec 28;80(5):543-5. Am J Med Genet. 1998. PMID: 9880230 No abstract available.

3

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: cuisset l. Am J Med Genet. 2002 Sep 1;111(4):405-8. doi: 10.1002/ajmg.10570. Am J Med Genet. 2002. PMID: 12210300

4

[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].

Dupont JM, Cuisset L. Dupont JM, et al. Among authors: cuisset l. Arch Pediatr. 1998 Apr;5(4):418-24. doi: 10.1016/s0929-693x(98)80031-6. Arch Pediatr. 1998. PMID: 9759164 Review. French.

5

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: cuisset l. Hum Mol Genet. 2000 Sep 1;9(14):2183-7. doi: 10.1093/hmg/9.14.2183. Hum Mol Genet. 2000. PMID: 10958657

6

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: cuisset l. 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

7

PEG1 expression in maternal uniparental disomy 7.

Cuisset L, Le Stunff C, Dupont JM, Vasseur C, Cartigny M, Despert F, Delpech M, Bougnere P, Jeanpierre M. Cuisset L, et al. Ann Genet. 1997;40(4):211-5. Ann Genet. 1997. PMID: 9526615

8

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G. Cuisset L, et al. Am J Hum Genet. 1999 Oct;65(4):1054-9. doi: 10.1086/302589. Am J Hum Genet. 1999. PMID: 10486324 Free PMC article.

9

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: cuisset l. 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

10

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: cuisset l. 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

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