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Guidelines for the prevention and treatment of glucocorticoid-induced osteoporosis in pediatrics.
Brunetto O, Cassinelli HR, Espada G, Viterbo GL, Meiorin SM, Ahumada MF, Brenzoni L, Maher MC, Chavero I, Ramírez Stieben LA, Brance ML. Brunetto O, et al. Among authors: cassinelli hr. Arch Argent Pediatr. 2024 Apr 1;122(2):e202202948. doi: 10.5546/aap.2022-02948.eng. Epub 2023 Jul 6. Arch Argent Pediatr. 2024. PMID: 37382585 Free article. English, Spanish.
Burden of Disease in Patients With Tumor-Induced Osteomalacia.
Jerkovich F, Nuñez S, Mocarbel Y, Pignatta A, Elías N, Cassinelli H, Díaz AG, Vigovich C, Balonga MC, Cohen AC, Mumbach G, Gonzalez S, Zanchetta JR, Zanchetta MB. Jerkovich F, et al. Among authors: cassinelli h. JBMR Plus. 2020 Dec 18;5(2):e10436. doi: 10.1002/jbm4.10436. eCollection 2021 Feb. JBMR Plus. 2020. PMID: 33615105 Free PMC article.
[Rickets associated to the use of elemental formula: A case report].
Castro S, Velasco Suárez C, Vieites A, Bergadá I, Cassinelli H. Castro S, et al. Among authors: cassinelli h. Arch Argent Pediatr. 2021 Feb;119(1):e49-e53. doi: 10.5546/aap.2021.e49. Arch Argent Pediatr. 2021. PMID: 33458991 Free article. Spanish.
[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: cassinelli h. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: cassinelli h. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
Statement of Argentine pediatric endocrinologists on growth hormone interchangeability.
Alonso G, Balbi V, Bazán de Casella C, Belgorosky A, Bergadá I, Brunetto O, Cassinelli H, Ciaccio M, Keselman A, Miras MB, Morín A; Comité Nacional de Endocrinología Pediátrica. Alonso G, et al. Among authors: cassinelli h. Arch Argent Pediatr. 2019 Aug 1;117(4):212-215. doi: 10.5546/aap.2019.eng.213. Arch Argent Pediatr. 2019. PMID: 31339262 Free article. English, Spanish. No abstract available.
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: cassinelli h. 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.
23 results