Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Autor: Concepción Hernández, Emilio Cuesta, Pablo Lapunzina, Ramón Peces, Dolores Tellería, Rocío Mena, Yolanda Martín, Julián Nevado, Carlos Peces, Rafael Selgas

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Molecular Genetics & Genomic Medicine
Biblos-e Archivo. Repositorio Institucional de la UAM
instname

Background Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well‐delineated genetic, bioc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a18869515964a0254f8941f9dc678c8
https://doaj.org/article/7fb2a9acf0784e3bba702315cc508d2e

A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

Autor: Felipe Moreno, Francisco J. del Castillo, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Ibis Menéndez, Dolores Tellería, Araceli Álvarez, Manuela Villamar

Publikováno v: New England Journal of Medicine. 346:243-249

Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in different populations have mutations in the gene encoding the gap-junction protein connexin 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bbc0f4913d4dd037ae484b72fc1207
https://doi.org/10.1056/nejmoa012052

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations

Autor: Jose M. de Campos, Mercedes Robledo, Javier Benitez, Alberto Cascón, Marina Pollán, Dolores Tellería, Jerónimo Bravo, María J. Muñoz, Arancha Cebrián, Carmen Lacambra, Rocío Letón, Raquel Rodríguez-López, Miguel Urioste, Sergio Ruiz-Llorente

Publikováno v: Human mutationREFERENCES. 23(2)

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. This gene, located in the 3p25-26 chromosome, is a tumor suppressor gene associated with the inhibition of angiogenesis and apoptosis, cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c92ea37c43876a6b24dd12a291d17650
https://pubmed.ncbi.nlm.nih.gov/14722919

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation

Autor: Mercedes Robledo, Sergio Ruiz-Llorente, Dolores Tellería, Javier Benítez, Arancha Cebrián, A Cascón

Publikováno v: Scopus-Elsevier

Phaeochromocytoma is a rare, neuroendocrine, chromaffin staining tumour that usually arises within the adrenal medulla, although extra-adrenal phaeochromocytomas also appear in ganglia of the sympathetic nervous system. Approximately 10% of phaeochro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ef04e2f06197e99cf46efaf13dfda02
https://pubmed.ncbi.nlm.nih.gov/12362046

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients

Autor: Antonio Picó, Mercedes Robledo, A Cascón, Sergio Ruiz-Llorente, Arancha Cebrián, Javier Benítez, Marina Pollán, Juan Jose Diez, Dolores Tellería

Publikováno v: Scopus-Elsevier

Multiple endocrine neoplasia type 1 (MEN1, OMIM 131100) is an autosomal dominant disorder characterised by the combination of endocrine tumours, such as parathyroid tumours, enteropancreatic tumours, anterior pituitary tumours, adrenal gland, and neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0ff7d2f640d55946335191477a9b50
http://www.scopus.com/inward/record.url?eid=2-s2.0-0041777670&partnerID=MN8TOARS