Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Roberto Cruz-Alcívar"'
Autor:
Roberto Cruz-Alcívar, P. Navarrete-Meneses, A. Reyes-León, A. González-Del Angel, V. Ulloa-Avilés, Patricia Pérez-Vera, A. I. Pedraza-Meléndez, A. González-Orsuna, S. Gómez-Carmona, Consuelo Salas-Labadía, David E. Cervantes-Barragán, Emiy Yokoyama-Rebollar, Esther Lieberman-Hernández, Adriana Ruiz-Herrera, Carola Durán-McKinster, D. Martínez-Anaya, V. Del Castillo-Ruiz, D. Suárez-Pérez, C. Villarroel-Cortés
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad97d1e0b6016f81af280efa02d09cc
http://link.springer.com/article/10.1186/s13023-019-1208-0
http://link.springer.com/article/10.1186/s13023-019-1208-0
Autor:
Alan Caro-Contreras, Ariadna González-del Angel, Sandra Ramos, Miguel Angel Alcántara-Ortigoza, Roberto Cruz-Alcívar, Paola Moyers-Pérez
Publikováno v:
American Journal of Medical Genetics Part A. 176:161-166
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b6834c9901b71d99590ff9dd2d2b19d
https://doi.org/10.1002/ajmg.a.38526
https://doi.org/10.1002/ajmg.a.38526
Autor:
Karin Buiting, Samuel Gómez, Consuelo Cantú-Reyna, Patricia Pérez-Vera, Carola Durán-McKinster, Esther Lieberman, Consuelo Salas-Labadía, Roberto Cruz-Alcívar, Pilar Navarrete-Meneses
Publikováno v:
Molecular Cytogenetics
Background Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2175c392dd55cc6c1ab4f656ca4aad45
http://europepmc.org/articles/PMC4180134
http://europepmc.org/articles/PMC4180134
Autor:
Roberto Cruz-Alcívar, David J. Dávila-Ortíz de Montellano, Carola Durán-McKinster, Robert Daber, Victoria Del Castillo-Ruiz, David E. Cervantes-Barragán, Laura K. Conlin, Laura D Leonard, Nancy B. Spinner, Patricia Pérez-Vera, Consuelo Salas-Labadía
Publikováno v:
American journal of medical genetics. Part A. (7)
We present the literature review of ring chromosome 7 and clinical, cytogenetic and fine molecular mapping of the first postnatal report of a male child with a non-supernumerary ring chromosome 7, r(7). The patient had dysmorphic features, developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc14d7a9ec0d9532cb72e8991eab5f58
https://pubmed.ncbi.nlm.nih.gov/24677512
https://pubmed.ncbi.nlm.nih.gov/24677512