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11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. Netchine I, et al. Among authors: esteva b. J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. doi: 10.1210/jc.2007-0354. Epub 2007 May 15. J Clin Endocrinol Metab. 2007. PMID: 17504900
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: esteva b. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L. Dumeige L, et al. Among authors: esteva b. Eur J Endocrinol. 2018 Sep;179(3):181-190. doi: 10.1530/EJE-18-0309. Epub 2018 Jul 4. Eur J Endocrinol. 2018. PMID: 29973376 Free article.
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J. De Pontual L, et al. Among authors: esteva b. Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e. Pediatr Res. 2008. PMID: 18670370
Retinal involvement in two unrelated patients with Myhre syndrome.
Al Ageeli E, Mignot C, Afenjar A, Whalen S, Dorison N, Mayer M, Esteva B, Dubern B, Momtchilova M, Le Gargasson JF, Bursztyn J, Héron D. Al Ageeli E, et al. Among authors: esteva b. Eur J Med Genet. 2012 Oct;55(10):541-7. doi: 10.1016/j.ejmg.2012.05.006. Epub 2012 Jun 7. Eur J Med Genet. 2012. PMID: 22683461
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Young J, Metay C, Bouligand J, Tou B, Francou B, Maione L, Tosca L, Sarfati J, Brioude F, Esteva B, Briand-Suleau A, Brisset S, Goossens M, Tachdjian G, Guiochon-Mantel A. Young J, et al. Among authors: esteva b. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12. Hum Reprod. 2012. PMID: 22416012
13 results