Cuisset L - Search Results

1

Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

Coupaye M, Tauber M, Cuisset L, Laurier V, Bieth E, Lacorte JM, Oppert JM, Clément K, Poitou C. Coupaye M, et al. Among authors: cuisset l. J Clin Endocrinol Metab. 2016 Dec;101(12):4895-4903. doi: 10.1210/jc.2016-2163. Epub 2016 Sep 23. J Clin Endocrinol Metab. 2016. PMID: 27662437

2

[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.

3

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G. L'Herminé AC, et al. Among authors: cuisset l. Prenat Diagn. 2003 Nov;23(11):938-43. doi: 10.1002/pd.732. Prenat Diagn. 2003. PMID: 14634983

4

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: cuisset l. Am J Clin Pathol. 2014 Aug;142(2):248-53. doi: 10.1309/AJCPBLMPRXKU1JUE. Am J Clin Pathol. 2014. PMID: 25015868

5

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C. Moradkhani K, et al. Among authors: cuisset l. Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19. Prenat Diagn. 2019. PMID: 31273809 Free article.

6

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I. Boursier G, et al. Among authors: cuisset l. J Clin Med. 2021 Apr 7;10(8):1552. doi: 10.3390/jcm10081552. J Clin Med. 2021. PMID: 33917151 Free PMC article.

7

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

8

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M; International Hyper-IgD Study Group. Cuisset L, et al. Eur J Hum Genet. 2001 Apr;9(4):260-6. doi: 10.1038/sj.ejhg.5200614. Eur J Hum Genet. 2001. PMID: 11313769

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

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

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