Results 141 to 150 of about 123,532 (341)
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome
Clinical Genetics, EarlyView.Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia +16 more
wiley +1 more source
The Development of Spinal Deformity in Experimental Scoliosis [PDF]
, 1965 Jarl‐Erik Michelsson
openalex +1 more source
Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature
Science, 2016 Haiyun Gan +20 more
semanticscholar +1 more source
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source
Clinical Genetics, EarlyView.We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes +23 more
wiley +1 more source
Idiopathic scoliosis: genetic and environmental aspects. [PDF]
, 1967 Frances V. De George, Robert L. Fisher
openalex +1 more source
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, EarlyView.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
wiley +1 more source
Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source