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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
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
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
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
Riller Q, Fourgeaud J, Bruneau J, De Ravin SS, Smith G, Fusaro M, Meriem S, Magerus A, Luka M, Abdessalem G, Lhermitte L, Jamet A, Six E, Magnani A, Castelle M, Lévy R, Lecuit MM, Fournier B, Winter S, Semeraro M, Pinto G, Abid H, Mahlaoui N, Cheikh N, Florkin B, Frange P, Jeziorski E, Suarez F, Sarrot-Reynauld F, Nouar D, Debray D, Lacaille F, Picard C, Pérot P, Regnault B, Da Rocha N, de Cevins C, Delage L, Pérot BP, Vinit A, Carbone F, Brunaud C, Marchais M, Stolzenberg MC, Asnafi V, Molina T, Rieux-Laucat F, Notarangelo LD, Pittaluga S, Jais JP, Moshous D, Blanche S, Malech H, Eloit M, Cavazzana M, Fischer A, Ménager MM, Neven B. Riller Q, et al. Among authors: pinto g. J Allergy Clin Immunol. 2023 Jun;151(6):1634-1645. doi: 10.1016/j.jaci.2022.12.822. Epub 2023 Jan 10. J Allergy Clin Immunol. 2023. PMID: 36638922 Free PMC article.
876 results