Výsledky vyhledávání - "Valeria, De Dona"

SAT-LB051 Longitudinal Growth in Height and Changes in Body Proportions in Children with Hereditary Hypophosphatemic Rickets in a Single Center

Autor: Matías Pujana, Gabriela Guercio, Gisela Viterbo, Alicia Belgorosky, Natalia Perez Garrido, Maria Sol Del Pino, Valeria De Dona, Pablo Ramírez, Roxana Marino, Victoria Fano, Elisa Vaiani, M. Arenas

Publikováno v: Journal of the Endocrine Society

Children with Hereditary Hyphophosphatemic Rickets (HHR) are characterized by hypophosphatemia, rickets and disproportionate short stature. Aim: To analyze growth pattern in height (H) and body proportions during childhood and puberty in a cohort of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668950bd015e9fece28ee878706dcc82
https://doi.org/10.1210/js.2019-sat-lb051

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Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

Autor: María Sonia Baquedano, Mariana Costanzo, Roxana Marino, Marco A. Rivarola, Mercedes Maceiras, Gabriela Guercio, Eduardo Chaler, Esperanza Berensztein, Juan Manuel Lazzatti, Alicia Belgorosky, Pablo Ramirez, Jessica Galeano, Nora Saraco, Diana Monica Warman, Valeria De Dona, Marta Ciaccio

Publikováno v: Hormone Research in Paediatrics. 78:119-126

In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::386b7cc2e523eda39b6a3b1babf5e85d
https://doi.org/10.1159/000338346

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Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency

Autor: Diana Monica Warman, Eduardo Chaler, Mercedes Maceiras, Roxana Marino, Pablo Ramírez, Isabel Di Palma, Alicia Belgorosky, Matias Juanes, Marta Ciaccio, Valeria De Dona, Marco A. Rivarola

Publikováno v: Clinical endocrinology. 80(4)

Fil: Juanes, Matias Hernan. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatria "Juan P. Garrahan"; Argentina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4640ba445a8dbf52eb77c9f26ca8e
https://pubmed.ncbi.nlm.nih.gov/23789946

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Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred

Autor: Marta, Ciaccio, Mariana, Costanzo, Gabriela, Guercio, Valeria, De Dona, Roxana, Marino, Pablo C, Ramirez, Jessica, Galeano, Diana Monica, Warman, Esperanza, Berensztein, Nora, Saraco, Maria Sonia, Baquedano, Eduardo, Chaler, Mercedes, Maceiras, Juan Manuel, Lazzatti, Marco A, Rivarola, Alicia, Belgorosky

Publikováno v: Hormone research in paediatrics. 78(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d2d7ac2afba1a2a7285292c9690743f
https://pubmed.ncbi.nlm.nih.gov/22907560

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