Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marie Francoise Bertheas"'
Autor:
Marie Francoise Bertheas, Monique Bachy, Jean-Pierre Magaud, Ruth Rimokh, Christian Vasselon, Francoise Berger, Pascale Calmard Oriol, Jerome Jaubert, Jacqueline Reynaud, Charles Pierre Brizard, Denis Guyotat
Publikováno v:
Leukemia & Lymphoma. 8:197-200
Variant translocations (2;18 and 18;22) are described in this review. The chromosomal and molecular findings of these translocation of BCL2 and their effect on possible BCL2 gene activation is discussed. Unanswered questions still remain and these in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a262d5edf9ad1abb8492968c3a3f49ee
https://doi.org/10.3109/10428199209054905
https://doi.org/10.3109/10428199209054905
Autor:
Monique Bachy, Françoise Devillard, Fabienne Prieur, Pierre Crost, Marianne Till, Marie‐Francoise Bertheas
Publikováno v:
American journal of medical genetics. 40(3)
Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8591715494df8d1d433cf5b6c5f971
https://pubmed.ncbi.nlm.nih.gov/1951445
https://pubmed.ncbi.nlm.nih.gov/1951445
Autor:
Hubert Renaud, John M. Opitz, Marie‐Francoise Bertheas, Corinne Loire, James F. Reynolds, Christine Francannet, Charles Sultan, Philippe Vanlieferinghen, Georges Malpuech
Publikováno v:
American Journal of Medical Genetics. 24:679-684
A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62545453a0f5d01d3022256177cc9aef
https://doi.org/10.1002/ajmg.1320240412
https://doi.org/10.1002/ajmg.1320240412