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Analysing an allelic series of rare missense variants of 1 CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
(BioMed Central, 2018-01)
Background: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a ...
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
(Frontiers Media, 2022)
Different approaches for dealing with rare variants in family-based genetic studies: application of a Genetic Analysis Workshop 17 problem
(BioMed CentralLondon, 2011)
Rare variants are becoming the new candidates in the search for genetic variants that predispose individuals to a phenotype of interest. Their low prevalence in a population requires the development of dedicated detection ...
Identificação e caracterização de variantes novas e raras da hemoglobina humanaIdentification of characterization of novel and rare variants of human hemoglobin
(Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, 2008)
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil
(Springer Nature, 2022)
As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage ...
Blastoid variant of mantle cell lymphoma in palatine tonsil
(2021-11-01)
Blastoid variant of mantle cell lymphoma (MCL) is an aggressive and extremely rare malignancy. MCL may be diagnosed in lymph nodes and/or extranodal sites exhibiting a poor prognosis. MCL with primary presentation in ...
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
(Nature Publishing Group, 2016-04-01)
Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by ...