Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Andrés Ordóñez-Ugalde"'
Autor:
Yasser Alemán-Gómez, Andrés Ordóñez-Ugalde, Manuel Desco, Beatriz Quintáns, Francisco Grandas, Susanna Carmona, María-Jesús Sobrido, Julia Romero, Francisco J. Navas-Sánchez, Pilar Fernández-García, Luis Marcos-Vidal, Julio Pardo, Laura Lillo, Alberto Fernández-Pena, Irene Catalina, Daniel Martín de Blas, Juan A Guzmán-De-Villoria, José Luis Muñoz-Blanco
Publikováno v:
Journal of Neurology
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive spasticity and weakness of the lower limbs caused by d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2f20f283daf8db2ac325066a9e1bd9
Autor:
R. Yunga-León, Ulises Toscanini, N. Ugalde-Noritz, S. Cobos, M. Vela, Federico Martinón-Torres, F. Moscoso, A. Lupero, Ana Karina Zambrano, A. Gaviria, A. Carabajo-Marcillo, Andrés Ordóñez-Ugalde, Jacobo Pardo-Seco, Antonio Salas, Alberto Gómez-Carballa
Publikováno v:
Forensic Science International: Genetics. 33:59-65
Ecuadorians originated from a complex mixture of Native American indigenous people with Europeans and Africans. We analyzed Y-chromosome STRs (Y-STRs) in a sample of 415 Ecuadorians (145 using the AmpFlSTR® Yfiler™ system [Life Technologies, USA]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17cee58a2a4cfc2213fc1a5aa676c3ec
https://doi.org/10.1016/j.fsigen.2017.11.011
https://doi.org/10.1016/j.fsigen.2017.11.011
Autor:
Manuel Ginarte, Uxia Esperón-Moldes, D. Tettamanti-Miranda, N. Ugalde-Noritz, Laura Fachal, Ana Vega, F. Moscoso, J. C. Ruiz, Jacobo Pardo-Seco, Laura Rodríguez-Pazos, Antonio Salas, Andrés Ordóñez-Ugalde, Martha Montalván-Suárez, Alberto Gómez-Carballa
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a102be7e0b585b32793eeccce94f76
https://doi.org/10.1038/s41598-019-43133-6
https://doi.org/10.1038/s41598-019-43133-6
Autor:
Ashutosh Dhingra, Joana R. Loureiro, Patrizia Rizzu, Vítor Tedim Cruz, Angela Timóteo, Claudia L. Oliveira, Guy A. Rouleau, Jorge Sequeiros, Andrés Ordóñez-Ugalde, José Bessa, Beatriz Quintáns, María Jesús Sobrido, Cristina Costa, Hugo Marcelino, Ana I. Seixas, Eva Brandão, Angel Carracedo, Paula Coutinho, Peter Heutink, Isabel Silveira, José Leal Loureiro
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b3a79cc3c6bc2ea787f44e6f72164a
https://pubmed.ncbi.nlm.nih.gov/28686858
https://pubmed.ncbi.nlm.nih.gov/28686858
Autor:
María García-Murias, Sergio Piñeiro-Hermida, Samuel I. Pascual-Pascual, Pilar Cacheiro, Francisco Grandas, Angel Carracedo, María-Jesús Sobrido, Jorge Amigo, Javier Arpa, Andrés Ordóñez-Ugalde, Beatriz Quintáns
Publikováno v:
Molecular diagnosistherapy. 21(3)
Introduction: Variant detection protocols for clinical next-generation sequencing (NGS) need application-specific optimization. Our aim was to analyze the performance of single nucleotide variant (SNV) and copy number (CNV) detection programs on an N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42d5236b8904c4b47bc5af2acf51cde
https://pubmed.ncbi.nlm.nih.gov/28290094
https://pubmed.ncbi.nlm.nih.gov/28290094
Autor:
Michael A. Gonzalez, Burcak Ozes, M. Colak, Adriana P. Rebelo, Aysun Soysal, Andrés Ordóñez-Ugalde, Stephan Züchner, Beatriz Quintáns, Esra Battaloglu, Samuel I. Pascual, Florian Harmuth, N. Karagoz, Matthis Synofzik, B. Kara, Rebecca Schüle, Beyza Ciftci-Kavaklioglu, María-Jesús Sobrido
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Clinical genetics 92(5), 534-539 (2017). doi:10.1111/cge.13008
Consejería de Sanidad de la Comunidad de Madrid
Clinical genetics 92(5), 534-539 (2017). doi:10.1111/cge.13008
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c3fa95d9c37b690a3f56ca2f17c67b
https://hdl.handle.net/20.500.12530/32442
https://hdl.handle.net/20.500.12530/32442
Autor:
Angel Carracedo, Andrés Ordóñez-Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Pilar Cacheiro
Publikováno v:
Applied and Translational Genomics, Vol 3, Iss 3, Pp 60-67 (2014)
Applied & Translational Genomics
Applied & Translational Genomics
The field of medical genomics involves translating high throughput genetic methods to the clinic, in order to improve diagnostic efficiency and treatment decision making. Technical questions related to sample enrichment, sequencing methodologies and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac49302c77c53512f6b4ef94b691f18
http://www.sciencedirect.com/science/article/pii/S2212066114000155
http://www.sciencedirect.com/science/article/pii/S2212066114000155
Autor:
Jennifer Reichbauer, Feifei Tao, Teodora Chamova, Ziv Gan-Or, Elena Buglo, Mohammad Ali Faghihi, Mohammad Silawi, Farzaneh Modarresi, Mark A. Tarnopolsky, Matt C. Danzi, Ina Gehweiler, Masoume Yousefi, Albena Jordanova, Hamid Nemati, Amelie J. Mueller, Elisabeth Mangold, Rebecca Schüle, Parham Habibzadeh, Mohammad Ali Farazi Fard, Steve Courel, Hassan Dastsooz, Zahra Tabatabaei, Dana M. Bis-Brewer, Andrea Cortese, Tobias B. Haack, Ivailo Tournev, Majid Yavarian, Fariba Zarei, Hamid Reza Farpour, Christoph Kessler, María-Jesús Sobrido, Nicole B. Martuscelli, Selina Reich, Adriana P. Rebelo, Eric Powell, Xenia Kobeleva, Lisa Abreu, Matthis Synofzik, Guy A. Rouleau, Andrés Ordóñez-Ugalde, Beatriz Quintáns, Stephan Züchner
Publikováno v:
The American journal of human genetics
The American journal of human genetics 104(4), 767-773 (2019). doi:10.1016/j.ajhg.2019.03.001
The American Journal of Human Genetics
The American journal of human genetics 104(4), 767-773 (2019). doi:10.1016/j.ajhg.2019.03.001
The American Journal of Human Genetics
The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61fa4dbbd21c7e6b24369e074d9191e
https://doi.org/10.1016/j.ajhg.2019.05.009
https://doi.org/10.1016/j.ajhg.2019.05.009
Autor:
Fernanda Moscoso, Uxia Esperón-Moldes, Andrés Ordóñez-Ugalde, Daniel Tettamanti-Miranda, Laura Rodríguez-Pazos, Juan Carlos Ruiz, Ana Vega, Martha Montalván-Suárez, Nora Ugalde-Noritz, Manuel Ginarte, Laura Fachal, Luis Santomé
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine
Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4343e7bc2a844acacb0d3fdaf5747dbf
https://doi.org/10.1002/mgg3.608
https://doi.org/10.1002/mgg3.608
Autor:
Ian M. Campbell, Sung Sup Park, Soo Hyun Seo, Susanne Stemmler, John K. Fink, Nichole D. Hein, Marjorie Withers, Moon Woo Seong, Wendy E. Goodwin, Bo Yuan, Pawel Stankiewicz, Izabela Karbassi, Brett C. Baggett, Paolo Moretti, Christine R. Beck, Sat Dev Batish, James R. Lupski, María Jesús Sobrido, Philip M. Boone, Jennifer Scull, Christine J. Shaw, Andrés Ordóñez-Ugalde, Beatriz Quintáns
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6838397a4795f11e8e086339dd2d7b47
http://hdl.handle.net/20.500.11940/4512
http://hdl.handle.net/20.500.11940/4512