Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60%...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Principais autores: Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah JG, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867462/
https://ncbi.nlm.nih.gov/pubmed/26508573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.224
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