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Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.
J Child Neurol
January 2025
Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany.
Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.
View Article and Find Full Text PDFAssociation analysis between forkhead box E1 gene and non-syndromic cleft lip with or without cleft palate in Han Chinese population.
Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Objectives: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population.
Methods: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association.
Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.
Front Pediatr
January 2025
Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.
Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.
Granulomatous inflammatory responses are elicited in the liver of PD-1 knockout mice by genome mutagenesis.
Discov Immunol
December 2024
Laboratory of Functional Genomics and Medicine, Division of Biological Science, Nara Institute of Science and Technology (NAIST), Ikoma-shi, Nara, Japan.
Introduction: Programmed death-1 (PD-1) is a negative regulator of immune responses. Upon deletion of PD-1 in mice, symptoms of autoimmunity developed only after they got old. In a model experiment in cancer immunotherapy, PD-1 was shown to prevent cytotoxic T lymphocytes from attacking cancer cells that expressed neoantigens derived from genome mutations.
View Article and Find Full Text PDFBackground: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
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