A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

Autor: Victoria Viart, Aliya Ishmukhametova, Stéphanie Plaza, Garance Verrière, Florielle Saguet, Mireille Claustres, Anne Girardet

Publikováno v: European Medical Journal Reproductive Health, Vol 4, Iss 1, Pp 83-87 (2018)

Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The aim of this article was to report a universal and powerful assay easily applicable to al

Externí odkaz: https://doaj.org/article/6224f8184a474e58b10cdb02472b17b2

Dons et préservation de la fertilité

Autor: Stéphanie Plaza

Publikováno v: L'Aide-Soignante. 30:22-24

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::53e10b725409176de8aa614e8ae52068
https://doi.org/10.1016/j.aidsoi.2016.08.006

L’adénomyose

Autor: Stéphanie Plaza

Publikováno v: L'Aide-Soignante. 31:24-25

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a9e04e21120e4f69fd12d84e1677c86
https://doi.org/10.1016/j.aidsoi.2017.07.002

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

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

Autor: Nadira Yuldaseva, Oscar Lao, David Comas, R. Spencer Wells, Francesc Calafell, Stéphanie Plaza, Jaume Bertranpetit

Publikováno v: European Journal of Human Genetics. 12:495-504

Mitochondrial DNA (mtDNA) lineages of 232 individuals from 12 Central Asian populations were sequenced for both control region hypervariable segments, and additional informative sites in the coding region were also determined. Most of the mtDNA linea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6f1ea1c94dc3faefa9d27ceb3440ca
https://doi.org/10.1038/sj.ejhg.5201160