Results 51 to 60 of about 161,807 (290)
Audiogenic reflex seizures in cats [PDF]
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Bessant, C +4 more
core +2 more sources
Genetics and Molecular Biology, 2003 We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira +3 more
doaj +1 more source
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. [PDF]
PLoS ONE, 2012 Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing.
Shin-ichi Usami +5 more
doaj +1 more source
Comorbidities in aging patients with sickle cell disease. [PDF]
, 2018 Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing ...
Ballas, Samir K.
core +2 more sources
Disease Models & Mechanisms, 2013 SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and ...
Fahad Mahmood +8 more
semanticscholar +1 more source
Wolfram syndrome: A rare mimic of type 1 diabetes mellitus
CHRISMED Journal of Health and Research, 2016 Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM), optic atrophy, and deafness.
Manish Gutch +4 more
doaj +1 more source
Perrault Syndrome – A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder.
Sampathkumar Geethalakshmi +1 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Indian Journal of Endocrinology and Metabolism, 2012 Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie +7 more
doaj +1 more source
Disease Models & Mechanisms, 2013 SUMMARY The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability.
Kelly Sheehan‐Rooney +4 more
semanticscholar +1 more source