Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Luisa Argentiero"'
Autor:
Luisa Argentiero, Sabrina Giglio, Giovanni Foresti, Orsetta Zuffardi, Maria Grazia Patricelli, Tiziano Pramparo, Manuela De Gregori, Elena Rossi, Katiuscia Sosta
Publikováno v:
American Journal of Medical Genetics Part A. :189-192
We report on a 5p- azoospermic male not showing the clinical features diagnostic for the cri-du-chat syndrome but for a breathy, raspy voice. The 5p deletion breakpoint, determined by fluorescent in situ hybridization (FISH) analysis with BAC clones,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a9f5568fc729d115cf1d98e2ef4589
https://doi.org/10.1002/ajmg.a.30519
https://doi.org/10.1002/ajmg.a.30519
Autor:
Barbara Bardoni, Antonino Forabosco, Orsetta Zuffardi, Luisa Argentiero, Paolo Dagrada, Sabrina Giglio, Barbara Pirola, Giovanni Russo, Romeo Carrozzo, Giulia Arrigo, Franca Bernardi
Publikováno v:
European journal of human genetics : EJHG. 8(1)
Paralogous sequences on the same chromosome allow refolding of the chromosome into itself and homologous recombination. Recombinant chromosomes have microscopic or submicroscopic rearrangements according to the distance between repeats. Examples are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d2ff5c87cdfd196be884d79b55d5dc
https://pubmed.ncbi.nlm.nih.gov/10713889
https://pubmed.ncbi.nlm.nih.gov/10713889