Categoría: Articulos
-
Rare solid tumours as indicators of hereditary cancer syndromes
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02091-0Rare solid tumours as indicators of hereditary cancer syndromes
-
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02071-4Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells
-
Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics o…
-
Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype
ObjectiveTo perform a genetic analysis of a rare complex chimeric fetus with a 45,X/46,X,dic r(Y; Y)/46,X,r(Y) karyotype, indicated by NIPT as having sex chromosome abnormalities but with normal ultrasound findings. This study underscores the critical …
-
Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care
PurposeTumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs&rs…
-
Performance evaluation of a PCR/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may m…
-
Diagnostic utility of SNPM microarray in evaluating pancreaticobiliary brushing specimens in conjunction with conventional cytology
Bile duct brushings are non-invasive sampling of cells from the biliary tract for cytological evaluation and are useful to diagnose pancreaticobiliary malignancies. Although specificity of cytology is satisfactory, sensitivity is inherently low due to …
-
Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia
Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin. We describe an 18-year-…
-
Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review
BackgroundDiseases associated with the germline PIGA gene include multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) and neurodevelopmental disorder with epilepsy. The clinical heterogeneity of PIGA-related diseases is extensive, so i…
-
Non-coding structural variants disrupting conserved <i>PITX2</i> enhancer loci in Axenfeld–Rieger syndrome
European Journal of Human Genetics, Published online: 26 March 2026; doi:10.1038/s41431-026-02086-xNon-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome