Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Lorena, Santa María"'
Autor:
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand, Dennis Witt, Peter D. Turnpenny, Víctor Faundes, Lorena Santa María, Carolina Mendoza Fuentes, Paulina Mabe, Shaun A. Hussain, Sureni V. Mullegama, Erin Torti, Barbara Oehl-Jaschkowitz, Lina Basel Salmon, Naama Orenstein, Noa Ruhrman Shahar, Ofir Hagari, Lily Bazak, Sabine Hoffjan, Carlos E. Prada, Tobias Haack, David J. Elliott
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work was to associate germline variants in the TRA2B gene to a nov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e301c8aa682aa7ec544e815c8ac1619
https://pubmed.ncbi.nlm.nih.gov/36549593
https://pubmed.ncbi.nlm.nih.gov/36549593
Autor:
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1aad712bb4a2e2b8f25fd39879e43
https://pubmed.ncbi.nlm.nih.gov/36349505
https://pubmed.ncbi.nlm.nih.gov/36349505
Autor:
Solange Aliaga Vera, Emma Baker, Víctor Faundes, Michael Field, Matthew F. Hunter, Minh Bui, Bianca Curotto, Isabel Salas, Ling Ling, Jonathan Cohen, Angelica M. Alliende, Lorena Santa María, Justine Elliott, Marta Arpone, Claudine Kraan, Alexandra Ure, Cesar Trigo, David J. Amor, David E. Godler, Carolyn Rogers, David Francis, Paulina Morales, Lesley Bretherton
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders
BackgroundFragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of theFMR1promoter and silen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06fb46f1ee7d1f6a9a60724f73700ec8
https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
Autor:
Michael Field, Isabel Salas, Jonathan Cohen, David Francis, Carolyn Rogers, Justine Elliott, Lesley Bretherton, David E. Godler, Paulina Morales, Claudine Kraan, Bianca Curotto, Lorena Santa María, David J. Amor, Marta Arpone, Emma Baker, Víctor Faundes, Ling Ling, Matthew F. Hunter, Solange M. Aliaga, Minh Bui, Howard R. Slater, Kim Cornish, Cesar Trigo, Angelica M. Alliende
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-13 (2019)
Molecular Autism
Molecular Autism
Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd7cd09314434dac903d2a628e224719
http://link.springer.com/article/10.1186/s13229-019-0271-7
http://link.springer.com/article/10.1186/s13229-019-0271-7
Autor:
Michael Field, Lesley Bretherton, Víctor Faundes, Ling Ling, Cesar Trigo, Matthew F. Hunter, David J. Amor, Paulina Morales, Minh Bui, Claudine Kraan, Bianca Curotto, Emma Baker, Lorena Santa María, Marta Arpone, Angelica M. Alliende, Isabel Salas, Jonathan Cohen, Alexandra Ure, David E. Godler, Carolyn Rogers
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)
Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78985afbbb152928de5a65b772859637
https://doi.org/10.1038/s41598-020-68465-6
https://doi.org/10.1038/s41598-020-68465-6
Autor:
Emma K, Baker, Marta, Arpone, Claudine, Kraan, Minh, Bui, Carolyn, Rogers, Michael, Field, Lesley, Bretherton, Ling, Ling, Alexandra, Ure, Jonathan, Cohen, Matthew F, Hunter, Lorena, Santa María, Victor, Faundes, Bianca, Curotto, Paulina, Morales, Cesar, Trigo, Isabel, Salas, Angelica, Alliende, David J, Amor, David E, Godler
Publikováno v:
Scientific Reports
Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc945d7fca73a130f3de8589554b16ff
https://pubmed.ncbi.nlm.nih.gov/32678152
https://pubmed.ncbi.nlm.nih.gov/32678152
Autor:
Bianca Curotto, Ángela Pugin, Paulina Morales, Solange M. Aliaga, Isabel Salas, Víctor Faundes, Paulina Correa‐Burrows, Lorena Santa María, M.I. Peña, Paula Soto, María Angélica Alliende, Paulina Bravo
Publikováno v:
Journal of Policy and Practice in Intellectual Disabilities. 15:63-69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d5ad7990f64c8d3e9262841f7256e88
https://doi.org/10.1111/jppi.12229
https://doi.org/10.1111/jppi.12229
Publikováno v:
Revista médica de Chile. 145:854-861
Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21864abf7a3cf4ae79f1e4e3150ff9cd
https://doi.org/10.4067/s0034-98872017000700854
https://doi.org/10.4067/s0034-98872017000700854
Autor:
Karla Morales, Solange M. Aliaga, Víctor Faundes, Ángela Pugin, Lorena Santa María, Paulina Morales, Bianca Curotto, María Angélica Alliende
Publikováno v:
Journal of Applied Genetics. 57:63-69
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but subtelomeric fluorescence in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ea5eb78d57a39fb5a53d657d3f69c3
https://doi.org/10.1007/s13353-015-0295-4
https://doi.org/10.1007/s13353-015-0295-4
Autor:
Víctor, Faundes, Lorena, Santa María, Paulina, Morales, Bianca, Curotto, María Angélica, Alliende
Publikováno v:
Revista medica de Chile. 145(7)
In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA).To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ba7cf18085a7301647e0f58acbfd5eb
https://pubmed.ncbi.nlm.nih.gov/29182193
https://pubmed.ncbi.nlm.nih.gov/29182193