Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Pilar Carrasco Salas"'
Autor:
M. Rosario Torres Aguilar, Pilar Carrasco Salas, Cristina Santos Rosa, Guadalupe Bueno Rodríguez, Eduardo Martínez-Bonet, Práxedes Carreto Alba, Antonio León-Justel, M. Reyes Granell Escobar
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 4, Pp 745-751 (2021)
Objective: To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. Materials and methods: Traditional screening tests were performed using a combination of biochemical markers and ultrasound m
Externí odkaz:
https://doaj.org/article/f6dc39fc264c4fbab8f94c14bbc03aba
Autor:
María Eugenia López Valverde, María Isabel Rebollo Pérez, Eva María Martínez Fernández, Eva Murillo Espejo, Pilar Carrasco Salas
Publikováno v:
Endocrinología, Diabetes y Nutrición (English ed.). 69:382-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35d48decec145f5a9cce02fe397df7e8
https://doi.org/10.1016/j.endien.2022.04.002
https://doi.org/10.1016/j.endien.2022.04.002
Autor:
María Isabel Rebollo Pérez, Pilar Carrasco Salas, Eva Murillo Espejo, María Eugenia López Valverde, Eva María Martínez Fernández
Publikováno v:
Endocrinología, Diabetes y Nutrición. 69:382-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b56b379f857c1c9c9e0ed7c034241aea
https://doi.org/10.1016/j.endinu.2021.03.006
https://doi.org/10.1016/j.endinu.2021.03.006
Autor:
Clara Toscano Pérez, José Francisco Díaz Fernández, Jessica Roa Garrido, Pilar Carrasco Salas, Teresa Arrobas Velilla, Ignacio Vázquez Rico
Publikováno v:
Clínica e Investigación en Arteriosclerosis (English Edition). 33:62-69
So far, most cases of hypercholesterolaemia (60-80%) are attributed to pathogenic variants in the LDLR gene. Only 1-5% of cases are caused by variants in the APOB gene, and 0-3% by variants in the PCSK9 gene. There is a large variety in known pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7be2916df076b624fe02090c7b552c
https://doi.org/10.1016/j.artere.2021.02.002
https://doi.org/10.1016/j.artere.2021.02.002
Autor:
Ignacio Vázquez Rico, Clara Toscano Pérez, Jessica Roa Garrido, Pilar Carrasco Salas, Teresa Arrobas Velilla, José Francisco Díaz Fernández
Publikováno v:
Clínica e Investigación en Arteriosclerosis. 33:62-69
Resumen Hasta el momento, la mayor parte de los casos de hipercolesterolemia familiar (60-80%) se atribuyen a variantes patogenicas en el gen LDLR. Solo un 1-5% de los casos se produce por variantes en el gen APOB y un 0-3% por variantes en el gen PC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92fcda95011709ee5c989589b8536d39
https://doi.org/10.1016/j.arteri.2020.08.003
https://doi.org/10.1016/j.arteri.2020.08.003
Autor:
Raquel Tena, Ana Cía González, Álvaro Gragera Martínez, Rosario Mateos Checa, Antonio León Justel, Pilar Carrasco Salas
Publikováno v:
Revista del Laboratorio Clínico. 12:e75-e80
Resumen Introduccion La trisomia del cromosoma 8, conocida como sindrome de Warkany, es una rara enfermedad genetica que cursa con un fenotipo muy variable. Su principal caracteristica clinica es la discapacidad intelectual, facies dismorficas y plie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a5c32f1e2e2cd8499d8c16338dc3f3e
https://doi.org/10.1016/j.labcli.2019.03.003
https://doi.org/10.1016/j.labcli.2019.03.003
Autor:
Alfredo Reparaz Andrade, María Santamaría González, María José Alcaine, Ana Cuesta Peredo, Clara Gómez González, Pilar Carrasco Salas, Cristina Torreira Banzas, Reyes Granell Escobar, Carmen Prior de Castro, Begoña Ezquieta Zubicaray
Publikováno v:
Revista del Laboratorio Clínico. 12:27-37
Resumen El termino diagnostico prenatal comprende todas las modalidades de diagnostico dirigidas a detectar durante la gestacion una anomalia congenita que incluya trastornos estructurales o funcionales. Un porcentaje de las mismas se debe a factores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aa73dab4a6bf2c386d6b7566ce16023
https://doi.org/10.1016/j.labcli.2018.10.001
https://doi.org/10.1016/j.labcli.2018.10.001
Autor:
Antonio León-Justel, Práxedes Carreto Alba, Cristina Santos Rosa, Eduardo Martínez-Bonet, M. Rosario Torres Aguilar, Guadalupe Bueno Rodríguez, M. Reyes Granell Escobar, Pilar Carrasco Salas
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 4, Pp 745-751 (2021)
Objective To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. Materials and methods Traditional screening tests were performed using a combination of biochemical markers and ultrasound mea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::280318ca3a75ba5b1162f4719e65c3e9
https://hdl.handle.net/10668/18186
https://hdl.handle.net/10668/18186
Publikováno v:
Molecular Syndromology. 9:83-91
Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected individuals, mostly in pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d47d08222d57b5ab8e1c3d47ef1bc6
https://doi.org/10.1159/000485638
https://doi.org/10.1159/000485638
Autor:
Álvaro Gragera Martínez, Ana Cía González, Ignacio Vázquez Rico, Antonio León Justel, Pilar Carrasco Salas, Pilar Rodríguez Ortega
Publikováno v:
Revista del Laboratorio Clínico. 10:154-157
Familial hypocalciuric hypercalcemia is a benign cause of hypercalcemia of autosomal dominant inheritance that does not normally require treatment. The case is presented on a 21 year-old male with a typical familial hypocalciuric hypercalcemia bioche
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fe1385f92ea4bcc84b9566e8e16121d
https://doi.org/10.1016/j.labcli.2017.03.001
https://doi.org/10.1016/j.labcli.2017.03.001