Results 101 to 110 of about 157,517 (293)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

The Genetics of Parkinson’s Disease

Genel Tıp Dergisi
Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian ...
Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel   +2 more
doaj   +1 more source

Homozygosity for autosomal dominant Marfan syndrome. [PDF]

, 1984
Juan Chemke, R Nisani, Ami Feigl, R Garty, Marianne J Cooper, Yoseph Barash, Dan Duksin   +6 more
openalex   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production [PDF]

, 1981
CW Distelhorst, DS Wagner, Eugene Goldwasser, JW Adamson   +3 more
openalex   +1 more source

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

Familial occurrence of imperforate hymen in premature monozygotic twins and their mother: a case report and literature review

Frontiers in Pediatrics
BackgroundImperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance.
Bernadine Han Ern Chua, Zubair Amin, Zubair Amin, Yvonne Peng Mei Ng, Yvonne Peng Mei Ng   +4 more
doaj   +1 more source

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant‐Specific Disease Prediction

Annals of Neurology, EarlyView.
Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine, Gido Gravesteijn, Remco J. Hack, Kyra L. Dijkstra, Mar Rodríguez‐Girondo, Benno Gesierich, Marie‐Noëlle W. Witjes‐Ané, Remco van Doorn, Marco Duering, Julie W. Rutten, Saskia A. J. Lesnik Oberstein   +10 more
wiley   +1 more source

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source

Autosomal dominant isolated ('uncomplicated') microcephaly. [PDF]

, 1988
Paul Merlob, David Steier, S H Reisner
openalex   +1 more source