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876 results

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Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Geneviève D, et al. Among authors: pinto g. Eur J Hum Genet. 2005 Sep;13(9):1033-9. doi: 10.1038/sj.ejhg.5201448. Eur J Hum Genet. 2005. PMID: 15915160
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. Bernard F, et al. Among authors: pinto g. Pediatrics. 2004 Jan;113(1 Pt 1):136-41. doi: 10.1542/peds.113.1.136. Pediatrics. 2004. PMID: 14702466
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.
Teissier R, Flechtner I, Colmenares A, Lambot-Juhan K, Baujat G, Pauwels C, Samara-Boustani D, Beltrand J, Simon A, Thalassinos C, Crosnier H, Latrech H, Pinto G, Le Merrer M, Cormier-Daire V, Souberbielle JC, Polak M. Teissier R, et al. Among authors: pinto g. Eur J Endocrinol. 2014 Jun;170(6):847-54. doi: 10.1530/EJE-14-0071. Epub 2014 Mar 24. Eur J Endocrinol. 2014. PMID: 24662318
Central sleep apnea in children: experience at a single center.
Felix O, Amaddeo A, Olmo Arroyo J, Zerah M, Puget S, Cormier-Daire V, Baujat G, Pinto G, Fernandez-Bolanos M, Fauroux B. Felix O, et al. Among authors: pinto g. Sleep Med. 2016 Sep;25:24-28. doi: 10.1016/j.sleep.2016.07.016. Epub 2016 Aug 31. Sleep Med. 2016. PMID: 27823711
Sleep-disordered breathing in children with pycnodysostosis.
Khirani S, Amaddeo A, Baujat G, Michot C, Couloigner V, Pinto G, Arnaud E, Picard A, Cormier-Daire V, Fauroux B. Khirani S, et al. Among authors: pinto g. Am J Med Genet A. 2020 Jan;182(1):122-129. doi: 10.1002/ajmg.a.61393. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680459
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: pinto g. 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
876 results