Results 41 to 50 of about 1,639,589 (408)
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. [PDF]
, 2013 One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts.
Alhaddad, Hasan +6 more
core +1 more source
Management of Pain in Autosomal Dominant Polycystic Kidney Disease and Anatomy of Renal Innervation [PDF]
, 2015 Purpose Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life.
Bacallao, Robert L. +4 more
core +1 more source
Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)
Pediatric Neurology Briefs, 2008 Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj +1 more source
HTRA1-related autosomal dominant cerebral small vessel disease
Chinese Medical Journal, 2021 . Background. Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL ...
Jing-Yi Liu +8 more
doaj +1 more source
Genetic heterogeneity in autosomal dominant optic atrophy [PDF]
, 2002 Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Farah, Michel Eid +2 more
core +4 more sources
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents
Nature, 2017 Although genetic factors contribute to almost half of all cases of deafness, treatment options for genetic deafness are limited. We developed a genome-editing approach to target a dominantly inherited form of genetic deafness.
Xue Gao +28 more
semanticscholar +1 more source
Piebaldism: A brief report and review of the literature
Indian Dermatology Online Journal, 2012 Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules.
Saurabh Agarwal, Amit Ojha
doaj +1 more source
BMC Medicine, 2017 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic
I. Di Donato +16 more
semanticscholar +1 more source
Autosomal dominant polycystic kidney disease in Colombia
BMC Nephrology, 2023 Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo +6 more
doaj +1 more source
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). [PDF]
, 2011 We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia.
C Preudhomme +32 more
core +1 more source