Browsing by Author "b9b3e795-2c0c-40f8-9901-37c65e10a1f2"
Now showing items 1-5 of 5
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Pardo Vargas, Rosa; Lay-Son, Guillermo; Aranda Chacón, Waldo; Recabal, Pedro; Navarrete, María S.; Tenhamm, Tamara; Rebolledo, Cristian; Dib, Martin; Muñoz Fernández, María Paz; Muñoz, Pilar; Espina, Pablo; Ojeda, Natalia; Parra, Jorge (WILEY-LISS, 2006-06-01)
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Pardo, Rosa; Lay-Son, Guillermo; Aranda, Waldo; Recabal, Pedro; Navarrete, Maria; Tenhamm, Tamara; Rebolledo, Cristian; Dib, Martin; Muñoz, María; Muñoz, Pilar; Espina, Pablo; Ojeda, Natalia; Parra, Jorge (2006)
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Jara, Lilian; Ampuero Llanos, Sandra; Santibáñez, Eudocia; Seccia, Lorena; Rodríguez, Juan; Bustamante, Mario; Lay-Son, Guillermo; Ojeda, José Manuel; Reyes, José Miguel; Blanco, Rafael (Society of Biology of Chile, 2004)BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, ...
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León, Luis; Benavides, Felipe; Espinoza, Karena; Vial, Cecilia; Alvarez Zenteno, Patricia; Lay Son, Guillermo; Miranda, Macarena; Repetto, Gabriela (Nature, 2017)22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...
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Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortés, Fanny; Álvarez, Cecilia; Gómez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U.; Aradhya, Swaroop (Wiley, 2020)Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal ...