Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Africa Manero-Azua"'
Autor:
Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with i
Externí odkaz:
https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5
Autor:
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a sin
Externí odkaz:
https://doaj.org/article/6d6d6e263f2c43be969b0f09df225b77
Publikováno v:
Genes, Vol 15, Iss 1, p 120 (2024)
GNAS-activating somatic mutations give rise to Fibrous Dysplasia/McCune–Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status of the mutations generate some difficulties for a proper diagnosis. We stud
Externí odkaz:
https://doaj.org/article/ffd032e2e07041e6aa950e6b137e8955
Autor:
Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
ObjectiveiPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested. In rare cases, parental mosaicism ha
Externí odkaz:
https://doaj.org/article/01c9535ab7d2486b9b681d5ff8946025
Autor:
Izaro Kortazar-Zubizarreta, Africa Manero-Azua, Juan Afonso-Agüera, Guiomar Perez de Nanclares
Publikováno v:
Journal of Personalized Medicine, Vol 13, Iss 9, p 1396 (2023)
The expanded GGGGCC hexanucleotide repeat (HRE) in the non-coding region of the C9ORF72 gene (C9ORF72-HRE) is the most common genetic cause of familial forms of amyotrophic lateral sclerosis (ALS), FTD, and concurrent ALS and FTD (ALS-FTD), in additi
Externí odkaz:
https://doaj.org/article/29c4abcd82ce4f3d838e04107f288f73
Autor:
Izaro, Kortazar-Zubizarreta, Hasier, Eraña, Arrate, Pereda, Jorge M, Charco, Africa, Manero-Azua, Rebeca, Ruiz-Onandi, Urko, Aguirre, Gonzalo, Gonzalez-Chinchon, Guiomar, Perez de Nanclares, Patricia, Piñeiro
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 82:169-179
Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of a recent FFI case series. The Basque Brain