Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Silvia Castillo Taucher"'
Autor:
Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, Joao Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga-Jauregui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and c
Externí odkaz:
https://doaj.org/article/e5af34b144c34633a1480d3b1be74c12
Autor:
Silvia Castillo Taucher
Publikováno v:
Medwave, Vol 10, Iss 02, p e4376 (2010)
Externí odkaz:
https://doaj.org/article/6187e1d17bed46a7b79fb2f6324dbc61
Publikováno v:
Journal of Pediatric Genetics.
Coffin–Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remodeling-a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4c8565c3ebeb3e03b79e5fdacea8dbe
https://doi.org/10.1055/s-0041-1740531
https://doi.org/10.1055/s-0041-1740531
Autor:
Silvia Castillo Taucher
Publikováno v:
Molecular Genetics & Genomic Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1830f8504d1048466faa6ac3d0e666
https://doi.org/10.1002/mgg3.166
https://doi.org/10.1002/mgg3.166
Autor:
Patricio Gonzalez-Hormazabal, Silvia Castillo-Taucher, Kate Chandler, Barry A. Chioza, Andrew H. Crosby, Víctor Faundes
Publikováno v:
European Journal of Medical Genetics. 57:536-542
Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ab8d9ac8480e7f68e9909e88f01f8f
https://doi.org/10.1016/j.ejmg.2014.07.001
https://doi.org/10.1016/j.ejmg.2014.07.001
Autor:
Eduardo de la Rosa Rebaza, Silvia Castillo Taucher, Ana María Fuentes Soto, Alejandro Paulos Millanao
Publikováno v:
Revista chilena de obstetricia y ginecología. 79:40-46
Aproximadamente 15% de todos los embarazos clinicos terminan en aborto espontaneo. La causa mas frecuente de aborto espontaneo es una anomalia cromosomica fetal, tal como una trisomia autosomica, monosomia X y poliploidia. Desde mayo de 1991 hasta fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc4a154db7df08064e9b819240fcbfd6
https://doi.org/10.4067/s0717-75262014000100007
https://doi.org/10.4067/s0717-75262014000100007
Autor:
Rosa A, Pardo Vargas, Mariana, Aracena, Teresa, Aravena, Carolina, Cares, Fanny, Cortés, Víctor, Faundes, Cecilia, Mellado, Cristóbal, Passalacqua, Patricia, Sanz, Silvia, Castillo Taucher
Publikováno v:
Revista chilena de pediatria. 87(5)
The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5532027837e46539ae5ad3d696311597
https://pubmed.ncbi.nlm.nih.gov/27234469
https://pubmed.ncbi.nlm.nih.gov/27234469
Publikováno v:
Medicina Clínica. 139:446-451
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4f293be11c271f54f0328f26f5b83e6
https://doi.org/10.1016/j.medcli.2012.02.014
https://doi.org/10.1016/j.medcli.2012.02.014
Publikováno v:
Revista médica de Chile. 138:1530-1534
Background About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. Aim To report the molecular and genetic study in two families with hered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa8ec8bef389be2942611c9de65b2f20
https://doi.org/10.4067/s0034-98872010001300009
https://doi.org/10.4067/s0034-98872010001300009
Autor:
Giulio Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier, Rodrigo Moreno-Salinas, Murim Choi, Andrea Superti-Furga, Jong Hee Chae, Luisa Bonafé, Enrico Girardi, Ok Hwa Kim, Beryl Royer-Bertrand, Tae Joon Cho, Silvia Castillo-Taucher, Sheila Unger, Esra Dikoglu
Publikováno v:
Scientific Reports, vol. 5, pp. 17154
Scientific Reports
Scientific Reports
We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but disti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0057184aa8a5e6fa4b0b1b47d774841
https://serval.unil.ch/notice/serval:BIB_825739ACCA7E
https://serval.unil.ch/notice/serval:BIB_825739ACCA7E
