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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Prasad R, et al. Among authors: bergada i. J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165343 Free PMC article.
Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy.
Lopez Dacal J, Prada S, Correa Brito L, Ropelato MG, Ballerini MG, Rodriguez ME, Gutiérrez ME, Soria M, Morán L, Ferraro C, Bedecarrás P, Drelichman G, Aversa L, Bergadá I, Rey RA, Grinspon RP. Lopez Dacal J, et al. Among authors: bergada i. Front Endocrinol (Lausanne). 2023 May 16;14:1135467. doi: 10.3389/fendo.2023.1135467. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37260445 Free PMC article.
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Arboleda VA, et al. Among authors: bergada i. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. Nat Genet. 2012. PMID: 22634751 Free PMC article.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I. Braslavsky D, et al. Among authors: bergada i. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Rajagopal A, et al. Among authors: bergada i. J Clin Endocrinol Metab. 2014 Nov;99(11):E2451-6. doi: 10.1210/jc.2014-1517. Epub 2014 Jul 22. J Clin Endocrinol Metab. 2014. PMID: 25050900 Free PMC article.
102 results