Lista de obras - Sara Widaa - Dominio Público Uruguay

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

GLO1-A novel amplified gene in human cancer

artículo científico publicado en 2010

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

artículo científico publicado en 2011

Lung cancer: intragenic ERBB2 kinase mutations in tumours

artículo científico publicado en 2004

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

artículo científico publicado en 2006

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

artículo científico publicado en 2007

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

artículo científico publicado en 2007

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

artículo científico publicado en 2007

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

artículo científico publicado en 2007

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

artículo científico publicado en 2006

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

artículo científico publicado en 2009

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

artículo científico publicado en 2006

Signatures of mutation and selection in the cancer genome

artículo científico publicado en 2010

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

artículo científico publicado en 2009

Somatic mutations of the protein kinase gene family in human lung cancer

artículo científico publicado en 2005

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

artículo científico publicado en 2015

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

artículo científico publicado en 2008

Lista de obras de Sara Widaa

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

GLO1-A novel amplified gene in human cancer

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Lung cancer: intragenic ERBB2 kinase mutations in tumours

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

Signatures of mutation and selection in the cancer genome

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Somatic mutations of the protein kinase gene family in human lung cancer

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment