Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Esther Lieberman Hernández"'
Autor:
Daniel Martínez Anaya, María del Rocío Juárez-Velázquez, Sinuhé Reyes Ruvalcaba, María del Pilar Navarrete-Meneses, Consuelo Salas Labadía, Esther Lieberman Hernández, Patricia Pérez-Vera
Publikováno v:
Molecular Syndromology. :1-12
Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6e420a7626b310d8ecaf1db104818ca
https://doi.org/10.1159/000528472
https://doi.org/10.1159/000528472
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:
C. Azotla-Vilchis, Consuelo Salas-Labadía, Carola Durán-McKinster, M. Abreu-González, V. Ulloa-Avilés, Patricia Pérez-Vera, J.C. Cifuentes-Goches, V. Del Castillo-Ruiz, C.E. Villarroel, P. Navarrete-Meneses, L. Márquez-Quiroz, G. Garza-Mayén, Esther Lieberman-Hernández
Publikováno v:
European journal of medical genetics. 64(5)
Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD(14)mat), paternal deletion, or epimutation, leading to disturbances in 14q32.2 imprinted region. The most frequent phenotypic manifestations are prenatal and postnatal growt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e55d66f8325e5efa1f8f7d40bdfafc43
https://pubmed.ncbi.nlm.nih.gov/33746039
https://pubmed.ncbi.nlm.nih.gov/33746039
Autor:
Silvia Sánchez-Sandoval, Emiy Yokoyama-Rebollar, Victoria Del Castillo-Ruiz, José Luis Castrillo, Silvia M Ávila-Flores, Adriana Ruiz-Herrera, Esther Lieberman-Hernández
Publikováno v:
Molecular Cytogenetics
Background The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77bf62a7c772bd6e0eba516b94a0f9e2
http://europepmc.org/articles/PMC4404657
http://europepmc.org/articles/PMC4404657
Autor:
Sara Elva Espinosa-Padilla, Esther Lieberman-Hernández, Marco Antonio Yamazaki-Nakashimada, Leticia Hernández-Nieto
Publikováno v:
Journal of pediatric hematology/oncology. 33(6)
The absence of an appropriate central tolerance in primary immunodeficiencies favors proliferation of autoreactive lymphocyte clones, causing a greater incidence of autoimmunity. Del 22q11.2 syndrome presents an increased incidence of allergic and au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b0dbacbc5744a7306d309c93b2ab16
https://pubmed.ncbi.nlm.nih.gov/21792043
https://pubmed.ncbi.nlm.nih.gov/21792043