Results 31 to 40 of about 6,628 (168)
Frontiers in Genetics, 2019 Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due
Geun-Young Park +4 more
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Complex and segmental uniparental disomy updated [PDF]
Journal of Medical Genetics, 2008 Objective: To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. Design: Searching for published reports in PubMed and in the abstract books of the ...
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Prenatal diagnosis and genetic counseling of uniparental disomy
Taiwanese Journal of Obstetrics and Gynecology, 2022 Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent. Most chromosomes involving UPD have no pathogenic effects. However, abnormal phenotypes in cases with UPD can be mainly caused by disrupting genetic imprinting and by uncovering harmful autosomal recessive mutations.
Shu-Chin, Chien +2 more
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Molecular Cytogenetics, 2021 Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3).
Marguerite Hureaux +7 more
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Uniparental Disomy and Genomic Imprinting in Humans [PDF]
Acta geneticae medicae et gemellologiae: twin research, 1996 Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans. First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one ...
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Uniparental Disomy and Genome Imprinting: an Overview [PDF]
Acta geneticae medicae et gemellologiae: twin research, 1996 The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution. This aberrant mode of transmission arises from the high rate of gamete aneuploidy in humans.
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PMM2‐CDG caused by uniparental disomy: Case report and literature review
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes +6 more
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source
Human Genome Variation, 2023 A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain structural ...
Keiko Shimojima Yamamoto +2 more
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