Výsledky vyhledávání - "María Desamparados Sarabia Meseguer"

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance

Autor: Verónica Castillo-Guardiola, Laura Rosado-Jiménez, María Desamparados Sarabia-Meseguer, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, María Ángeles Moreno-Locubiche, Encarnación Cuevas-Tortosa, María Arnaldos-Carrillo, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo

Publikováno v: European journal of medical genetics. 65(4)

BRCA1 and BRCA2 are the two main genes causing hereditary breast and ovarian cancer (HBOC). However, thanks to the development of Next Generation Sequencing (NGS), other genes linked to this syndrome (CHEK2, BRIP1, ATM and PALB2 among others) can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be3e6b354c07949a73a5973ed157e0d
https://pubmed.ncbi.nlm.nih.gov/35245693

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Second trimester angiotensing-converting enzyme and uterine artery Doppler as predictors of preeclampsia in a high-risk population

Autor: José A. Noguera-Velasco, Ana Martínez-Ruiz, Isabel Tovar-Zapata, Joaquín Pérez-Fornieles, María Desamparados Sarabia-Meseguer, Juan Luis Delgado-Marín, Juan Antonio Vílchez

Publikováno v: Hypertension in Pregnancy. 34:171-180

Objective: To investigate whether serum angiotensing-converting enzyme (ACE) and uterine artery Doppler (UAD) are useful markers as predictors of preeclampsia (PE) in a high-risk population. Methods: Patients at risk of PE (n = 68) were subclassified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd28c0ae05bf23de6caea6242f20224
https://doi.org/10.3109/10641955.2014.988352

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Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry

Autor: Pilar Sánchez Henarejos, Xavier Gabaldó Barrios, Miguel Marín Vera, José Luis Alonso Romero, Francisco Ruiz Espejo, Ana Isabel Sánchez Bermúdez, Gema Marín Zafra, María Desamparados Sarabia Meseguer

Publikováno v: Familial Cancer. 13:431-435

Mutations in breast cancer susceptibility (BRCA) genes lead to defects in DNA repair processes resulting in elevated genome instability and predisposing to breast and ovarian cancer. We report a novel mutation (c.1918C>T) in the exon 11 of the BRCA1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fd199170ae24678d0df6dcb532db23
https://doi.org/10.1007/s10689-014-9708-5

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Placental growth factor, soluble fms-like tyrosine kinase 1 and progesterone as diagnostic biomarkers for ectopic pregnancy and missed abortion

Autor: José A. Noguera-Velasco, Joaquín Pérez-Fornieles, Ana Martínez-Ruiz, Juan Antonio Vílchez, Isabel Tovar-Zapata, María Desamparados Sarabia-Meseguer

Publikováno v: Clinical biochemistry. 47(9)

Objective The aim of this study is to investigate if progesterone, placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt1) serum levels are useful markers to differentiate between ectopic pregnancy (EP), missed abortion (MA) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfb0759d1357198ad0c2e4223a6c59f
https://pubmed.ncbi.nlm.nih.gov/24699433

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