Results 161 to 170 of about 384,456 (306)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
Identification of a Predictive Model for Schizophrenia Based on SNPs in a Chinese Population [PDF]
Zhiying Yang,1,* Shun Yao,1,2,* Yichong Xu,1 Xiaoqing Zhang,1,2 Yuan Shi,1,2 Lijun Wang,1,2 Donghong Cui1,2 1Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China; 2Shanghai Key ...
Yang Z +6 more
core +1 more source
Random forest Gini importance favors SNPs with large minor allele frequency [PDF]
, 2011 Bermejo, Justo Lorenzo +4 more
core +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Advances in BODIPY Derivatives for Antibacterial Phototherapy
Angewandte Chemie, EarlyView.This review systematically summarizes the design strategies and structure‐activity relationships of BODIPY‐based antibacterial phototherapy, covering molecular engineering of small‐molecule photosensitizers and nanoplatforms, bacterial targeting and carrier design, and discussing the challenges and future perspectives associated with clinical ...
Li Lv +9 more
wiley +2 more sources
Prioritization of rs187728237 and rs80320514 as miRNA-related Variants of Human AEG-1 Gene
Medical Laboratory Journal, 2018 Background and objectives: 3chr('39') untranslated region (3chr('39')UTR) single nucleotide polymorphisms (SNPs) represent genetic variations that may potentially affect binding of miRNA to coding genes, potentially leading to complex disorders.
Semira Kheiri +3 more
doaj
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman +41 more
wiley +1 more source
Exploring causal correlations between oily fish intake and multiple sclerosis: A two-sample Mendelian randomization study. [PDF]
Asia Pac J Clin NutrChang S, Shi K, Zhang M.
europepmc +1 more source