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A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
(2018)
Background: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...
Molecular and cellular pathogenesis of pituitary tumors
(Elsevier, 2018-08)
Pituitary tumors occur sporadically (95%) or as hereditary tumors, either associated with endocrine syndromes (2.5%) or as familial isolated variants (FIPA, 2.5%). In sporadic pituitary tumors, in addition to the known ...
The genetic basis of DOORS syndrome: an exome-sequencing study
(Elsevier, 2017)
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 ...
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing
STUDY QUESTION Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER WES is an efficient tool to study genetic ...
The odyssey of complex neurogenetic disorders: From undetermined to positive
(Wiley-liss, div John Wiley & Sons Inc., 2020-12)
The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a ?diagnostic odyssey.? An increase in the variability of genetic disorders and the corresponding gene-disease ...