Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Cecilia Del Carmen, Montes"'
Autor:
Claudia Alejandra Martin, Lourdes Suárez Villasmil, Adela Sembaj, Fabian Gomez Balangione, Silvia Zunino, Cecilia del Carmen Montes, Adriana Borello, Andres Del Castillo, Maximiliano Zeballos, Norma Teresa Rossi
Publikováno v:
Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 79, Iss 3 (2022)
Introducción: Los síndromes de predisposición hereditaria al cáncer representan un 5-10% de los casos de cáncer, el más estudiado es HBOC producido por mutaciones en los genes BRCA1/2. Objetivos: Describir características clínicas, histopatol
Externí odkaz:
https://doaj.org/article/b6406ad8074744728120738fd69eeed7
Autor:
Claudia Alejandra, Martin, Lourdes, Suárez Villasmil, Adela, Sembaj, Fabian, Gomez Balangione, Silvia, Zunino, Cecilia Del Carmen, Montes, Adriana, Borello, Andres, Del Castillo, Maximiliano, Zeballos, Norma Teresa, Rossi
Publikováno v:
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina). 79(3)
Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes.To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8efa82a8f08fa4d01102d141ffc33766
https://pubmed.ncbi.nlm.nih.gov/36149077
https://pubmed.ncbi.nlm.nih.gov/36149077
Autor:
Ernesto Juaneda, Julio Orellana, Alejandra Cháves, Norma Teresa Rossi, Blanca L. Pereyra, Alicia Sturich, Luis Alday, Cecilia del Carmen Montes, Roberto De Rossi
Publikováno v:
Archivos Argentinos de Pediatria. 111:423-427
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fluorescence in sit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3abb7d357218ae9d407922e123d41af9
https://doi.org/10.5546/aap.2013.423
https://doi.org/10.5546/aap.2013.423
Autor:
Mariana Asinari, Cecilia del Carmen Montes, Norma Teresa Rossi, Alicia Sturich, Eduardo Cuestas, Mariana Boterón, Ivana Canonero
Publikováno v:
Archivos Argentinos de Pediatria. 110:e50-e54
Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24d567e8394a44f1fd9359b98224ad30
https://doi.org/10.5546/aap.2012.e50
https://doi.org/10.5546/aap.2012.e50
Autor:
María Ana Pasquali, Dante M. Beltramo, Cecilia del Carmen Montes, Néstor W. Soria, Cristian A. Galván, Andrea Belaus, Pablo Vélez
Publikováno v:
Genetic Testing and Molecular Biomarkers. 14:749-751
Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in CES sequences could lead to variability in both the inactivation of drugs and the activation of prodrugs. The human CES1 gene encodes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3952d69e57756d9403a560b5740ec308
https://doi.org/10.1089/gtmb.2010.0037
https://doi.org/10.1089/gtmb.2010.0037
Autor:
Cecilia, Del Carmen Montes, Alicia, Sturich, Alejandra, Chaves, Ernesto, Juaneda, Julio, Orellana, Roberto, De Rossi, Blanca, Pereyra, Luis, Alday, Norma Teresa, Rossi
Publikováno v:
Archivos argentinos de pediatria. 111(5)
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8934f622337b2685be0f4ea831019e3
https://pubmed.ncbi.nlm.nih.gov/24092030
https://pubmed.ncbi.nlm.nih.gov/24092030