Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Víctor L. Ruiz‐Pérez"'
Autor:
Luis Francisco González Álvarez, Jair Tenorio‐Castaño, Fernando A. Poletta, Fernando Santos‐Simarro, Pedro Arias, Natalia Gallego, Iêda Maria Orioli, Stefan Mundlos, Eduardo E. Castilla, Víctor Martínez‐Glez, María Luisa Martínez‐Frías, Víctor L. Ruiz‐Pérez, Julián Nevado, Pablo Lapunzina
Publikováno v:
American Journal of Medical Genetics Part A
We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of LMBR1. The causa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cadf3ab18de180f337df11081e9087a
https://hdl.handle.net/21.11116/0000-000B-61BB-521.11116/0000-000B-61BD-3
https://hdl.handle.net/21.11116/0000-000B-61BB-521.11116/0000-000B-61BD-3
Autor:
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine
[Purpose]: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9c2cb95f13c2d762c5435721f9e969
https://pubmed.ncbi.nlm.nih.gov/36197437
https://pubmed.ncbi.nlm.nih.gov/36197437
Autor:
Julián Nevado, Jair Tenorio, Leslie G. Biesecker, Nancy B. Spinner, Antonio Torrelo, Víctor L. Ruiz Pérez, Lara Rodriguez-Laguna, Rudolf Happle, Marta Feito, Victor Martinez-Glez, Pablo Lapunzina, Gema Gordo, Luis A. Pérez-Jurado, Raúl de Lucas
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or copy-number variants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19d8dfad90d77f6edda5f8839dd6669
https://doi.org/10.1038/s41436-020-0877-3
https://doi.org/10.1038/s41436-020-0877-3
Autor:
null Jair Tenorio, null Pablo Alarcón, null Pedro Arias, null Feliciano J. Ramos, null Jaume Campistol, null Salvador Climent, null Sixto García-Miñaur, null Irene Dapia, null Alicia Hernández, null Julián Nevado, null Mario Solís, null Víctor L. Ruiz Pérez, null The S.O.G.R.I. Consortium, null Pablo Lapunzina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b42b76546a6900f1969bafff86424cc
https://doi.org/10.1111/cge.13504/v3/response1
https://doi.org/10.1111/cge.13504/v3/response1
Autor:
Pablo Barbeito, Raquel Martin-Morales, Adrian Palencia-Campos, Juan Cerrolaza, Celia Rivas-Santos, Leticia Gallego-Colastra, Jose Antonio Caparros-Martin, Carolina Martin-Bravo, Ana Martin-Hurtado, Laura Sánchez-Bellver, Gemma Marfany, Victor L. Ruiz-Perez, Francesc R. Garcia-Gonzalo
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that
Externí odkaz:
https://doaj.org/article/a86e27311a0c49f7aeba15c269909a16
Autor:
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona S. Aglan, Ghada A. Otaify, Samia A. Temtamy, Victor L. Ruiz-Perez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond
Publikováno v:
Bone Research, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The
Externí odkaz:
https://doaj.org/article/8819c17624e646f48aa4bc6e7acfe858
Autor:
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Externí odkaz:
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8
Autor:
Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syn
Externí odkaz:
https://doaj.org/article/e2bfa111bef842338cd1fef004c9fe4e