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Timely diagnosis of Wilson's disease using whole exome sequencing
(Elsevier, 2015-11)
Wilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis ...
Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
(BioMed Central, 2017)
Abstract
Objectives
The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this ...
Further evidence of the importance of RIT1 in Noonan syndrome
(John Wiley & Sons, Inc.Hoboken, 2014-08-13)
Noonan syndrome (NS) is an autosomal dominant disorder consisting of short stature, short and/or webbed neck, distinctive facial features, cardiac abnormalities, cryptorchidism, and coagulation defects. NS exhibits genetic ...
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
(Karger, 2017)
Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal ...
Germline variants in DNA repair genes are associated with young-onset head and neck cancer
(2021-11-01)
The genetic predisposition to head and neck carcinomas (HNSCC) and how the known risk factors (papillomavirus infection, alcohol, and tobacco consumption) contribute to the early-onset disease are barely explored. Although ...
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
(Oxford University Press, 2015-09)
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures ...
Germline mutation in mus81 resulting in impaired protein stability is associated with familial breast and thyroid cancer
(2020-05-01)
Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnosed, and the lifetime risk for these cancers is increased in patients with a positive family history of both TC and BC. Although this phenotype ...
Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
(2018-01-01)
Ectopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the ...
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier, 2017)
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
(Cell PressCambridgeEUA, 2011)