Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Dominique Letessier"'
Autor:
Dominique Letessier, Jean-Michel Dupont, Nouha Essid, Géraldine Viot, Fatma Abdelhedi, Laila El Khattabi, Aziza Lebbar
Publikováno v:
American Journal of Medical Genetics Part A. 170:1912-1917
Chromosomal microarray analysis has become a powerful diagnostic tool in the investigation of patients with intellectual disability leading to the discovery of dosage sensitive genes implicated in the manifestation of various genomic disorders. Inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f62a5c45e6f9ff470d9adc5d514d69c
https://doi.org/10.1002/ajmg.a.37686
https://doi.org/10.1002/ajmg.a.37686
Autor:
Mohammad Pazooki, Françoise Baverel, Anne Roubergues, Aziza Lebbar, Dominique Letessier, Jean Michel Dupont
Publikováno v:
European journal of medical genetics. 50(1)
Familial transmissions of unbalanced chromosomal abnormalities are rare. We report here the first case of a maternally inherited pure partial duplication of the long arm of chromosome 6 [46,XX,dup(6)(q21q22.1)mat]. The proband was referred for karyot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73623d257a402b697c6ff5c4c701d059
https://pubmed.ncbi.nlm.nih.gov/17071147
https://pubmed.ncbi.nlm.nih.gov/17071147