Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Adriana Ruiz-Herrera"'
Autor:
Ariadna González-del Angel, Adriana Ruiz-Herrera, Nancy Leticia Hernández-Martínez, Carlos G. Todd-Quiñones, Carola Durán-McKinster, Patricia Herrera-Mora, Miguel Angel Alcántara-Ortigoza
Publikováno v:
Children, Vol 10, Iss 10, p 1614 (2023)
Tuberous sclerosis complex (TSC) is a genetic disorder, frequently characterized by early dermatological manifestations. The recognition and adequate description of these dermatological manifestations are of utmost importance for early diagnosis, all
Externí odkaz:
https://doaj.org/article/cd654e00c0c948998095f2598b35b03a
Autor:
Ma Dolores Hernandez, Jaime Asael Lopez Valdez, Cristian Mauritanya Muñoz Sánchez, Estefania Duran Sanchez, Maria Angelica Ramirez Hernandez, Alma Delia Vázquez de la Serna, Adriana Ruiz Herrera, Claudia Rivera Acuña, Beatriz Adriana Llamas Guillen, Luz María Sánchez Sánchez, Alondra Deras Martínez, Carmen Amor Avila Rejón, José Elias García Ortíz, Laura Flores
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100029- (2023)
Externí odkaz:
https://doaj.org/article/d572c1e41f704677877283685bc69b1b
Autor:
Ana Westenberger, Adriana Ruiz‐Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida M. Bertoli‐Avella, Peter Bauer, Christian Beetz
Publikováno v:
Movement Disorders. 38:502-504
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8139c5e77263295a20a8c18b03fcdd7a
https://doi.org/10.1002/mds.29323
https://doi.org/10.1002/mds.29323
Autor:
Roberto Cruz-Alcívar, P. Navarrete-Meneses, A. Reyes-León, A. González-Del Angel, V. Ulloa-Avilés, Patricia Pérez-Vera, A. I. Pedraza-Meléndez, A. González-Orsuna, S. Gómez-Carmona, Consuelo Salas-Labadía, David E. Cervantes-Barragán, Emiy Yokoyama-Rebollar, Esther Lieberman-Hernández, Adriana Ruiz-Herrera, Carola Durán-McKinster, D. Martínez-Anaya, V. Del Castillo-Ruiz, D. Suárez-Pérez, C. Villarroel-Cortés
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad97d1e0b6016f81af280efa02d09cc
http://link.springer.com/article/10.1186/s13023-019-1208-0
http://link.springer.com/article/10.1186/s13023-019-1208-0
Autor:
Ariadna González-del Angel, Bernardette Estandia-Ortega, Adriana Ruiz-Herrera, Miguel Angel Alcántara-Ortigoza, Guadalupe Vargas-Ramírez, Arturo Becerra, Cesárea Bermúdez-López, María José Navarro-Cobos
Publikováno v:
Neuropediatrics. 48:442-450
The FKRP-related disorders include the limb-girdle muscular dystrophy type 2I (LGMD2I, MIM#607155) which has a clinical overlap with dystrophinopathies. Except for Brazil, LGMD2I has not been described in other Latin-American countries, despite that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fb66dc7e5432d1122315d3367bcde7
https://doi.org/10.1055/s-0037-1607054
https://doi.org/10.1055/s-0037-1607054
Autor:
Silvia Sánchez-Sandoval, Emiy Yokoyama-Rebollar, Victoria Del Castillo-Ruiz, José Luis Castrillo, Silvia M Ávila-Flores, Adriana Ruiz-Herrera, Esther Lieberman-Hernández
Publikováno v:
Molecular Cytogenetics
Background The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77bf62a7c772bd6e0eba516b94a0f9e2
http://europepmc.org/articles/PMC4404657
http://europepmc.org/articles/PMC4404657