Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Heloisa Meneses"'
Autor:
Esther Gean, Victor Martinez-Glez, Ricardo Gracia-Bouthelier, Encarna Guillén, Loreto Martorell, Julián Nevado, Sixto García-Miñaur, Mario F. Fraga, Victoria Esteban Marfil, Pablo Lapunzina, Luis Morís Fernández, Heloisa Meneses, Valeria Romanelli
Publikováno v:
European Journal of Human Genetics. 19:416-421
Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperplasia, embryonal tumours, adr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fcbb6292fb57c53960c4474a6eafb9
https://doi.org/10.1038/ejhg.2010.236
https://doi.org/10.1038/ejhg.2010.236
Autor:
Ricardo Gracia, Valeria Romanelli, Guillermo Pita, Pablo Lapunzina, Mario F. Fraga, Purificación García de Miguel, Guiomar Perez de Nanclares, Beatriz Lecumberri, Luis Fernández, David Monk, Alex Martin Trujillo, Victor Martinez-Glez, María Ángeles Mori, Anna González Neira, Sixto García-Miñaur, Julián Nevado, José Ignacio Rodríguez, Heloisa Meneses
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.212. ⟨10.1136/jmg.2010.081919⟩
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.212. ⟨10.1136/jmg.2010.081919⟩
International audience; Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumors revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. We demonstrate, by m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd63fcbf3fc51d3e3fdd5eb671db277
https://pubmed.ncbi.nlm.nih.gov/21097775
https://pubmed.ncbi.nlm.nih.gov/21097775
Autor:
Juan Pedro López-Siguero, Valeria Romanelli, Ricardo Gracia-Bouthelier, Victoria Esteban-Marfil, Luis Morís Fernández, Pablo Lapunzina, Encarna Guillén-Navarro, Karen E. Heath, Aurora Sánchez, Alberta Belinchón, Angel Campos-Barros, Sixto García-Miñaur, Sara Benito-Sanz, Rocío Mena, Graciela Mercado, Heloisa Meneses, Jan-Jaap Wesselink, Paulino Gómez-Puertas, Victor Martinez-Glez, Miguel Del Campo, Rebeca Palomo
Publikováno v:
American Journal of Medical Genetics Part A.
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888388275ffa86122a542a7a7b8dd4e3
https://doi.org/10.1002/ajmg.a.33453
https://doi.org/10.1002/ajmg.a.33453