Results 101 to 110 of about 17,178 (225)
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia [PDF]
, 2019 Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder ...
Alfieri, Paolo +10 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Pregnancy in women with a history of liver transplantation is considered high risk due to concerns about graft function, immunosuppressive therapy, and maternal‐fetal complications. We present the case of a young woman who underwent liver transplantation for fulminant hepatic failure in adolescence and subsequently achieved two successful ...
Harutyunyan Hayk +6 more
wiley +1 more source
, 1989 Figures for the incidence of epilepsy in Malta are not available. The overall figure for epilepsy given by the Royal College of General Practitioners (Reid 1960) is 4.82 per 1,000 population.
Galea Debono, Anthony
core
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +2 more sources
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra‐rare RASopathy caused by a heterozygous MAP2K2 (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory ...
Aleksandra Świeca +3 more
wiley +1 more source
Pharmacological aspects of neonatal antidepressant withdrawal [PDF]
, 2008 Depression is common in reproductive age women, and continued pharmacologic treatment of depression during pregnancy may be necessary to prevent relapse, which could be harmful for both the fetus and the mother. Although data on drug safety are imperfect
Brouwers, Jacobus R. B. J. +5 more
core +2 more sources
JPGN Reports, Volume 7, Issue 1, Page 174-178, February 2026.Abstract Pediatric B12 deficiency is most caused by insufficient dietary intake, malabsorption or autoimmune gastritis. We present a unique case of B12 deficiency in a pediatric patient with complex gastrointestinal anatomy and jejunal nutritional dependence nearly two decades after unsuccessful surgical intervention.
Angela H. Nguyen +2 more
wiley +1 more source
Detection and localization of atypical porcine pestivirus in the testicles of naturally infected, congenital tremor affected piglets. [PDF]
Transbound Emerg Dis, 2022 Dénes L +3 more
europepmc +1 more source