Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Gema Garcia-Garcia"'
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
Autor:
Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicate
Externí odkaz:
https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e
Autor:
Javier Poyatos-García, Patricia Soblechero-Martín, Alessandro Liquori, Andrea López-Martínez, Pilar Maestre, Elisa González-Romero, Rafael P. Vázquez-Manrique, Nuria Muelas, Gema García-García, Jessica Ohana, Virginia Arechavala-Gomeza, Juan J. Vílchez
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Background Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to replicate benign spontaneous deletions. Deletion of 45–55 DMD exons (del45–55) was described in asymptomatic
Externí odkaz:
https://doaj.org/article/04805daa00ca464381398824273732b2
Autor:
Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy patte
Externí odkaz:
https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2
Autor:
Elisa González-Romero, Cristina Martínez-Valiente, Gema García-García, Antonio Rosal-Vela, José María Millán, Miguel Ángel Sanz, Guillermo Sanz, Alessandro Liquori, José Vicente Cervera, Rafael P. Vázquez-Manrique
Publikováno v:
Cancers, Vol 15, Iss 17, p 4263 (2023)
Acute myeloid leukemia is a complex heterogeneous disease characterized by the clonal expansion of undifferentiated myeloid precursors. Due to the difficulty in the transfection of blood cells, several hematological models have recently been develope
Externí odkaz:
https://doaj.org/article/178050f29a954cb3806cc9f7fc7fddce
Autor:
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has re
Externí odkaz:
https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b
Autor:
José M. Millán, Gema García-García
Publikováno v:
Diagnostics, Vol 12, Iss 4, p 809 (2022)
The term rare disease was coined in the 1970s to refer to diseases that have a low prevalence [...]
Externí odkaz:
https://doaj.org/article/08b50b3e71854ab1b7b4448b59c2803e
Autor:
Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 6723 (2021)
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of
Externí odkaz:
https://doaj.org/article/36450764b72a4e8cb3ac57ad45e84040
Autor:
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 8, Iss , Pp 529-541 (2017)
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recur
Externí odkaz:
https://doaj.org/article/f43fca243fef4f4a9973a953b7c526c3
Autor:
Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
BackgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in E
Externí odkaz:
https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727