Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Dan Diego-Alvarez"'
Autor:
Najim Ameziane, Dan Diego-Alvarez, Wafaa Eyaid, Nouriya Al-Sannaa, Catarina Pereira, Ahmed Alfares, Aida M. Bertoli-Avella, Jozef Hertecant, Pilar Guatibonza, Abdulrahman Alswaid, Susan Zielske, Arndt Rolfs, María Calvo, Marius-Ionuț Iurașcu, Aisha M. Al-Shamsi, Yasemin Alanay, Florian Vogel, Christian Beetz, Peter Bauer, Krishna Kumar Kandaswamy, Monica Segura-Castel, Amal Alhashem, Kapil Kampe, Maria Eugenia Rocha, Willie Reardon, Majid Alfadhel, Dimitar Ugrinovski, Michal Zawada, Gitte Warnack, Mohammed AlBalwi, Martin Werber, Claudia Cozma, Omid Paknia, Fuad Al Mutairi, Natalia Herrera-Ordonez
Publikováno v:
European Journal of Human Genetics
Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. We analyzed 1007 consecutive index cases for wh
Autor:
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab
Publikováno v:
Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)
Hum. Mol. Genet. 31, 3083-3094 (2022)
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman
Autor:
Dan Diego-Alvarez, Charles Searby, José Ramírez, Darryl Y. Nishimura, Marta Rodriguez de Alba, I. Lorda-Sánchez, Carmen Ramos, Victor Martinez-Glez, Pedro Ruiz-Barnes, Carmen Ayuso
Publikováno v:
European Journal of Medical Genetics. 50:120-127
We report a 22-year-old female with a variant of the Axenfeld-Rieger Syndrome (ARS) and discuss its relation with the subtelomeric 6p deletion. An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specifi
Autor:
Maria Garcia-Hoyos, Dan Diego-Alvarez, Carmen Ayuso, Elena Vallespin-Garcia, Ana Bustamante-Aragones, Carmen Ramos-Corrales, J. Díaz-Recasens, Diego Cantalapiedra, I. Lorda-Sánchez
Publikováno v:
Human Reproduction. 21:958-966
Background Although single trisomy is the most common chromosomal abnormality observed within first trimester spontaneous abortions (SA) (>50%), double trisomy (DT) ranges from 0.21 to 2.8% in the literature. Since little is known about mechanisms un
Autor:
Isabel Lorda-Sanchez, M.J. Trujillo, Cristina Gonzalez-Gonzalez, Maria Garcia-Hoyos, Dan Diego-Alvarez, Marta Rodriguez de Alba, Carmen Ramos-Corrales, Carmen Ayuso
Publikováno v:
Human Reproduction. 20:1235-1243
BACKGROUND Aneuploidies involve approximately 80% of chromosomal anomalies found in spontaneous miscarriages. Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) t
Autor:
Dan Diego‐Alvarez, Wendy P. Robinson
Publikováno v:
The Placenta: From Development to Disease, From Development to Disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9025c2d38e1ac7c11464a768ccf66b48
https://doi.org/10.1002/9781444393927.ch35
https://doi.org/10.1002/9781444393927.ch35
Autor:
M.J. Trujillo, Carmen Ramos, Diego Cantalapiedra, Dan Diego-Alvarez, Elena Vallespín, Jesus Gallego-Merlo, Pilar Gómez-Garre, Carmen Ayuso, Maria Garcia-Hoyos, Ana Bustamante, Cristina Villaverde, I. Lorda-Sánchez
Publikováno v:
Investigative ophthalmologyvisual science. 49(4)
PURPOSE. Choroideremia (CHM) is an X-linked ophthalmic disease. The gene associated with CHM (REP-1) encodes a ubiquitously expressed protein that is indispensable for the posttranslational activation of retina-specific Rab protein. Different mutatio
Autor:
Elena Vallespín, J. Plaza, Dan Diego-Alvarez, Carmen Ayuso, C. González-González, M J Trujillo-Tiebas, M. Rodriguez de Alba, Ana Bustamante-Aragones, Carmen Ramos
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 14(3)
The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly im
Autor:
Cristina Gonzalez-Gonzalez, Ana Bustamante-Aragones, Carmen Ramos, María José Trujillo-Tiebas, Jesus Gallego-Merlo, G. Glover, Dan Diego-Alvarez, Marta Rodriguez de Alba, Carmen Ayuso
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 7(6)
Background Since the presence of fetal DNA was discovered in maternal blood, different investigations have focused on non-invasive prenatal diagnosis. The analysis of fetal DNA in maternal plasma may allow the diagnosis of fetuses at risk of cystic f
Autor:
Ana, Bustamante-Aragones, Elena, Vallespin, Marta, Rodriguez de Alba, Maria Jose, Trujillo-Tiebas, Cristina, Gonzalez-Gonzalez, Dan, Diego-Alvarez, Rosa, Riveiro-Alvarez, Isabel, Lorda-Sanchez, Carmen, Ayuso, Carmen, Ramos
Publikováno v:
Molecular Vision
Purpose Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%–24% of cases with LCA depending on the populat