Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

Autor: Laia Ramos, Javier del Rey, Gemma Daina, Manel García-Aragonés, Lluís Armengol, Alba Fernandez-Encinas, Mònica Parriego, Montserrat Boada, Olga Martinez-Passarell, Maria Rosa Martorell, Oriol Casagran, Jordi Benet, Joaquima Navarro

Publikováno v: PLoS ONE, Vol 9, Iss 11, p e113223 (2014)

Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Gene

Externí odkaz: https://doaj.org/article/5500e1d839744c709ba416636e298a63

First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening

Autor: A. Polo, Joaquima Navarro, Laida Ramos, Jordi Benet, A. Obradors, J Obradors, J. del Rey, Olga Martinez-Pasarell, Gemma Daina, Mariona Rius

Publikováno v: Clinical Genetics. 84:70-73

Preimplantation genetic diagnosis (PGD) has been applied worldwide for a great variety of single-gene disorders over the last 20 years. The aim of this work was to perform a double-factor preimplantation genetic diagnosis (DF-PGD) protocol in a famil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::37fbc44dede781657c85f148e6d6451c
https://doi.org/10.1111/cge.12025

Whole-Chromosome Aneuploidy Analysis in Human Oocytes: Focus on Comparative Genomic Hybridization

Autor: Mariona Rius, Laida Ramos, Jordi Benet, A. Obradors, Gemma Daina, Joaquima Navarro

Publikováno v: Cytogenetic and Genome Research. 133:119-126

The study of aneuploidy in human oocytes, discarded from IVF cycles, has provided a better understanding of the incidence of aneuploidy of female origin and the responsible mechanisms. Comparative genomic hybridization (CGH) is an established techniq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e266b05c6063b5621f5290ed0f0de428
https://doi.org/10.1159/000324233

Validation of embryocellecttm with sureplex amplified embryo biopsies

Autor: S Fernández, Gemma Daina, Christine Robinson, Silvia Modamio, Lydia Garcia, Melinda Jasper

Publikováno v: Reproductive BioMedicine Online. 36:e19

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cd40846a67aa533dec32be39dccb9cf3
https://doi.org/10.1016/j.rbmo.2017.10.045

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus

Autor: Martin Schwarz, Martine De Rycke, Stéphanie Plaza, Sioban SenGupta, Victoria Viart, Francesco Fiorentino, Florielle Saguet, Mireille Claustres, Gemma Daina, Aliya Ishmukhametova, Marie des Georges, A. Girardet, Maria Tzetis, Anne-Françoise Roux, Gary Harton, Joaquima Navarro, Caroline Raynal, Pamela Renwick

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.469-478. ⟨10.1038/ejhg.2015.99⟩
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname

Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. Howe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd1198d030c41d8ca1b2050652874a8
https://ddd.uab.cat/record/185339