Zobrazeno 1 - 10
of 10
pro vyhledávání: '"María Teresa Sánchez Calvín"'
Autor:
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, María de los Ángeles Gómez-Cano, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, José Miguel Lezana Rosales, Sonia Mayo de Andrés, María Teresa Sánchez-Calvín, María José Gómez-Rodríguez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Patricia Ramos Gomez, Clara Herrero-Forte, Maria Fenollar-Cortés, Carmen Cotarelo-Pérez, Adrián García Ron, Olga Pérez Rodríguez, Raluca Oancea-Ionescu, Marta Moreno-García
Publikováno v:
Neuropediatrics.
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1b289f1210577d267a2c7359c7d26a
https://pubmed.ncbi.nlm.nih.gov/36126956
https://pubmed.ncbi.nlm.nih.gov/36126956
Autor:
María Teresa Sánchez Calvín, José Miguel Lezana Rosales, Antonio Mendez-Guerrero, Irene Gómez Manjón, María José Gómez Rodríguez, Marta Moreno-García, Alberto Villarejo-Galende, Maria Isabel Alvarez-Mora, Juan Francisco Quesada Espinosa, Ana Arteche-López, Carmen Palma Milla
Publikováno v:
American Journal of Medical Genetics Part A. 185:591-595
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3c49380f8d6bf0ba7a675bd70ef3100
https://doi.org/10.1002/ajmg.a.61999
https://doi.org/10.1002/ajmg.a.61999
Autor:
Jaime Cruz-Rojo, Ollalla Sierra-Tomillo, Marta Moreno-García, Rubén Pérez de la Fuente, Laura Rausell-Sánchez, Jesus Gallego-Merlo, Alexandra Juárez-Rufián, José Miguel Lezana-Rosales, Irene Gómez-Manjón, Ana Bustamante-Aragones, María Teresa Sánchez-Calvín, Patricia Ramos-Gómez, A. Camacho-Salas, J. Pozo, Montserrat Morales-Conejo, Lucía Garzón-Lorenzo, Rogelio Simón de las Heras, Maria Isabel Alvarez-Mora, Irene Lázaro-Rodríguez, Juan Francisco Quesada-Espinosa, Irene Hidalgo-Mayoral, María A. Gomez-Cano, Ana Arteche-López, Carmen Palma-Milla, N. Núñez-Enamorado, Maria José Gómez-Rodríguez
Publikováno v:
Neurogenetics. 22(4)
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6307c1108292acf0151db700ceebe5e
https://pubmed.ncbi.nlm.nih.gov/34296368
https://pubmed.ncbi.nlm.nih.gov/34296368
Autor:
Ana María Camacho, Olalla Sierra Tomillo, Belén Gil-Fournier, Rogelio Simón, Alejandro Segura-Tudela, Juan Francisco Quesada-Espinosa, Maria Isabel Arranz Cano, Arancha Díaz de Bustamante, José Miguel Lezana Rosales, Pablo Morales-Pérez, Noemí Núñez, Rubén Pérez de la Fuente, Soraya Ramiro León, María Teresa Darnaude, Maria Isabel Alvarez-Mora, María José Gómez Rodríguez, Rebeca Villares Alonso, Carmen Palma Milla, Patricia Ramos Gómez, M. Moreno-García, Alexandra Juárez Rufián, Ana Arteche-López, Irene Hidalgo Mayoral, Irene Gómez-Manjón, María Teresa Sánchez Calvín
Publikováno v:
Genes, Vol 12, Iss 560, p 560 (2021)
Genes
Volume 12
Issue 4
Genes
Volume 12
Issue 4
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92756aa87cedeef077669e06ab0e6b63
https://www.mdpi.com/2073-4425/12/4/560
https://www.mdpi.com/2073-4425/12/4/560
Autor:
Ana Arteche-López, María Teresa Sánchez Calvín, Rubén Pérez de la Fuente, Juan Francisco Quesada Espinosa, Carmen Palma Milla, Marta Moreno Garcia, Maria Isabel Alvarez-Mora, Diego Tuñon Le Poultel, José Miguel Lezana Rosales, Emma Soengas Gonda, María José Gómez Rodríguez, Irene Gómez Manjón
Publikováno v:
Revista de Medicina de Laboratorio.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f020dcd4fa273b8e590ad7047cad8177
https://doi.org/10.20960/revmedlab.00077
https://doi.org/10.20960/revmedlab.00077
Autor:
Sara Palencia-Pérez, Fátima Tous-Romero, María Teresa Sánchez-Calvín, Pablo L. Ortiz-Romero, Juan Francisco Quesada-Espinosa
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 16:603-605
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dac5864c98e2a4e852f7d4ddb12b8f9c
https://doi.org/10.1111/ddg.13487
https://doi.org/10.1111/ddg.13487
Autor:
Fátima Tous-Romero, Sara Palencia-Pérez, Juan Francisco Quesada-Espinosa, María Teresa Sánchez-Calvín, Pablo L. Ortiz-Romero
Publikováno v:
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 16(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8859f8b396441aa23c125b7e858806d5
https://pubmed.ncbi.nlm.nih.gov/29750448
https://pubmed.ncbi.nlm.nih.gov/29750448
Autor:
Juan Francisco Gonzalo-Martínez, María Teresa Sánchez-Calvín, Montse Olivé, Cristina Domínguez-González, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Aurelio Hernández-Laín
Publikováno v:
Brain. 142:e66-e66
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a0ef601ddd0621a6e482c3a799b12a
https://doi.org/10.1093/brain/awz317
https://doi.org/10.1093/brain/awz317
Autor:
Concepción de Alba-Romero, Pilar Guerra-García, Fatima Delgado-Ledesma, Lorena Peña-González, María Teresa Sánchez-Calvín
Publikováno v:
Anales de Pediatría, Vol 85, Iss 6, Pp 321-322 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c386b0bd7ae9de1857998d250229232
http://www.sciencedirect.com/science/article/pii/S1695403316000436
http://www.sciencedirect.com/science/article/pii/S1695403316000436
Autor:
Concepción de Alba-Romero, Fatima Delgado-Ledesma, Pilar Guerra-García, Lorena Peña-González, María Teresa Sánchez-Calvín
Publikováno v:
Anales de Pediatría (English Edition), Vol 85, Iss 6, Pp 321-322 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918e311c435ae134902a0c2d209894f6
http://www.sciencedirect.com/science/article/pii/S2341287916000284
http://www.sciencedirect.com/science/article/pii/S2341287916000284