Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Autor: Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witt

Externí odkaz: https://doaj.org/article/5ca50093384a43658714a0fd86450d05

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to

Autor: Leila Cabral de Almeida, Cardoso, Alejandro, Parra, Cristina Ríos, Gil, Pedro, Arias, Natalia, Gallego, Valeria, Romanelli, Piranit Nik, Kantaputra, Leonardo, Lima, Juan Clinton, Llerena Júnior, Claudia, Arberas, Encarna, Guillén-Navarro, Julián, Nevado, Spanish OverGrowth Registry Initiative, Jair, Tenorio-Castano, Pablo, Lapunzina

Publikováno v: Cancers. 14(15)

Beckwith-Wiedemann syndrome spectrum (BWSp) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. Clinical features include overgrowth, macroglossia, neonatal hypoglycaemia, omphalocele, hemihyperplasia, cleft pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fbbd91752bf282c38a91de69af97d2fc
https://pubmed.ncbi.nlm.nih.gov/35954470

Algunos desafíos en mucopolisacaridosis tipo I

Autor: Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola

Publikováno v: Archivos Argentinos de Pediatria. 119

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27199487412c5fa7d22223a634696872
https://doi.org/10.5546/aap.2021.e193

Autism. Genetic and biological aspects

Autor: Claudia, Arberas, Víctor, Ruggieri

Publikováno v: Medicina (Buenos Aires), Vol 79, Iss Suppl 1, Pp 16-21 (2019)

Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d3da5395ae19a71f6f807195166c517e
http://www.medicinabuenosaires.com/PMID/30776274.pdf

Genetic literacy and psychological adaptation in adolescents with genetic diseases

Autor: Javiera Ortega, Claudia Arberas, Natalia Vázquez

Publikováno v: Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 78, Iss 1 (2021)
Revista de la Facultad de Ciencias Médicas de Córdoba. 2021, 78(1)
Repositorio Institucional (UCA)
Pontificia Universidad Católica Argentina
instacron:UCA

Fil: Ortega, Javiera. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Ortega, Javiera. Pontificia Universidad Católica Argentina. Facultad de Psicología y Psicopedagogía. Centro de Investigación de Psicología y Psico

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b0e9ceebf2b1702d5a20704a6eae1f
https://revistas.unc.edu.ar/index.php/med/article/view/25498