Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eugènia, Monrós"'
Autor:
Eugènia Monrós Marín, Assumpta Junyent
Publikováno v:
Revista de Psicoterapia. 27:181-202
The main objective of this article is to invite clinical psychologists and psychotherapists to think over the emotional and psychosocial impact that rare genetic diseases have on the individual. Both those affected and their families often need an ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5969af32886aec4b64cf20fcb423060c
https://doi.org/10.33898/rdp.v27i104.113
https://doi.org/10.33898/rdp.v27i104.113
Autor:
Eugènia Monrós, Maria Dolores Moltó, Francisco Martínez, Joaqún Canizares, Jose Blanca, Juan J. Vílchez, Felix Prieto, Rosa de Frutos, Francesc Palau
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Summary The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7–22 times in the normal population but amplified as many as > 1, 000 times in FA. Since it is an autosomal recessive disease,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a7d079f6c25936f1407e4c3dd0b923
https://doi.org/10.1086/513887
https://doi.org/10.1086/513887
Autor:
José Luís Séculi, C. Gutiérrez-Mateo, Jorge F. Sánchez-García, Joaquima Navarro, Eugènia Monrós, Jordi Benet
Publikováno v:
Molecular human reproduction. 11(6)
PGD is becoming an alternative to prenatal diagnosis. The combination of IVF techniques with the PCR technology allows for the detection of genetic abnormalities in first polar bodies from oocytes and blastomeres from cleavage-stage embryos. Dealing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0894bb7266213375161e45e6dea018e1
https://pubmed.ncbi.nlm.nih.gov/15908456
https://pubmed.ncbi.nlm.nih.gov/15908456
Autor:
Judith, Armstrong, Pilar, Póo, Mercè, Pineda, Elena, Aibar, Esther, Geán, Vicenç, Català, Eugènia, Monrós
Publikováno v:
Annals of neurology. 50(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::791ab602498ae657ae667f8ee9ba6313
https://pubmed.ncbi.nlm.nih.gov/11857656
https://pubmed.ncbi.nlm.nih.gov/11857656
Autor:
Eugènia Monrós, Francisco Palau
Publikováno v:
European Journal of Human Genetics. 3:205-205
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2458b0ddeea14928084de39aacbae944
https://doi.org/10.1159/000472297
https://doi.org/10.1159/000472297
Autor:
María Dolores Moltó, Juan J. Vilchez, Massimo Pandolfo, José Lopez-Arlandis, Rosa de Frutos, Felix Prieto, Michel Koenig, Francisco Palau, Eugènia Monrós, Patricia Smeyers, François Rodius, Joaquín Cañizares
Publikováno v:
Scopus-Elsevier
The Friedreich's ataxia locus (FRDA) maps on chromosome 9q13. Genetic data, obtained from a small number of recombination events, indicated that the FRDA locus might be located centromeric to the D9S15/D9S5 linkage group, the most probable order bein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b644e92d7b524703bf67905ce523ab37
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028019232&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028019232&partnerID=MN8TOARS
