Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome
Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela
Published in Frontiers in genetics (11.03.2024)
Published in Frontiers in genetics (11.03.2024)
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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency
Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A
Published in European journal of endocrinology (01.11.2019)
Published in European journal of endocrinology (01.11.2019)
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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Published in Cancers (05.08.2022)
Published in Cancers (05.08.2022)
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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
Brunetti‐Pierri, Nicola, Torrado, Maria, Fernandez, Maria del Carmen, Tello, Ana Maria, Arberas, Claudia L., Cardinale, Antonella, Piccolo, Pasquale, Bacino, Carlos A.
Published in Molecular genetics & genomic medicine (01.11.2014)
Published in Molecular genetics & genomic medicine (01.11.2014)
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Ophthalmic genetics in South America
Daich Varela, Malena, Moya, Rene, Schlottmann, Patricio G., Hufnagel, Robert B., Arberas, Claudia, Fernández, Federico M., Inga, M. Eugenia, Lores, Juliana, Pachajoa, Harry, Prada, Carlos E., Sallum, Juliana M. Ferraz
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
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Autism: the importance of dysmorphology in the identification of associated medical conditions
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Conference Proceeding
New recommendations for the care of patients with mucopolysaccharidosis type I
Bay, Luisa, Amartino, Hernán, Antacle, Alejandra, Arberas, Claudia, Berretta, Adriana, Botto, Hugo, Cazalas, Mariana, Copiz, Adriana, De Cunto, Carmen, Drelichman, Guillermo, Espada, Graciela, Eiroa, Hernán, Fainboim, Alejandro, Fano, Virginia, Guelber, Rorberto, Maffey, Alberto, Parisi, Claudio, Pereyra, Marcela, Remondino, Rodrigo, Schenone, Andrea, Spécola, Norma, Staciuk, Raquel, Zuccaro, Graciela
Published in Archivos argentinos de pediatría (01.04.2021)
Published in Archivos argentinos de pediatría (01.04.2021)
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