Results 21 to 30 of about 293,955 (289)

Autosomal dominant polycystic kidney

Pan African Medical Journal, 2022
Polycystic kidney disease is a hereditary illness that causes cystic growth of the kidneys, resulting in increasing kidney enlargement and renal insufficiency, as well as a variety of extrarenal symptoms. The illness has autosomal dominant and recessive inheritance patterns, characterized by gradual but increasing enlargement of the kidneys, with renal
Rugaved Raghavendra Gudadhe, Gaurav Rajendra Sawarkar   +1 more
openaire   +3 more sources

Arteriovenous Malformation of Lower Lip in Familial Cerebral Cavernous Malformation Syndrome: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Familial Cerebral Cavernous Malformations (FCCM) is a genetic condition marked by the presence of numerous vascular abnormalities within the brain and spinal cord.
Riya Anand Goyal, Nitin Dharampal Bhola, Sanjana Wadewale, Rajanikanth Kambala   +3 more
doaj   +1 more source

Familial Ménière's disease: clinical and genetic aspects [PDF]

, 2009
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Bailey, M.E.S., Morrison, A W, Morrison, G A J   +2 more
core   +1 more source

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 more sources

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiencyCoccidioidomycosis and autosomal dominant STAT1 deficiency [PDF]

Journal of Human Immunity
Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans.
Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia   +5 more
doaj   +1 more source

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

Pediatric Neurology Briefs, 2008
Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese, Alongi, Altenmüller, Argyelan, Baird, Baizabal-Carvallo, Berardelli, Black, Bragg, Brakebusch, Breakefield, Brüggemann, Burkhard, Byrnes, Chang, Chang, Charlier, Clemmons, De Lahunta, De Ley, De Vlamynck, Defazio, Deuschl, Deuschl, Di Riso, Draper, Du, Elia, Erro, Evinger, Fahn, Forman, Fremont, Garosi, Garosi, Geiger, Geyer, Gilio, Gill, Gill, Gill, Gittis, Goodchild, Grünberg, Hallett, Hamann, Harcourt-Brown, Harvey, Herrtage, Ikoma, Jankovic, Jankovic, Jankovic, Jinnah, Jinnah, Jinnah, Kaji, Klein, Kuyper, Lohmann, Lowrie, Malone, Martlé, McCall, Meyer-Lindenberg, Meyers, Meyers, Meyers, Meyers, Müller, Nardocci, Nollet, Nollet, Obeso, Ostrander, Ozelius, Packer, Packer, Pariset, Park, Paudel, Penderis, Peters, Peterson, Prudente, Quartarone, Quartarone, Raike, Ramsey, Rascol, Richter, Richter, Richter, Richter, Richter, Ridding, Rothwell, Rothwell, Rusbridge, Sacchetto, Sanger, Shelton, Stoessl, Suls, Testoni, Thenganatt, Tolosa, Urkasemsin, Valberg, Vanhaesebrouck, Wichmann, Wilson, Wissel, Woods, Wright, Wright, Yanagisawa   +116 more
core   +2 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

HTRA1-related autosomal dominant cerebral small vessel disease

Chinese Medical Journal, 2021
. Background. Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL ...
Jing-Yi Liu, Yi-Cheng Zhu, Li-Xin Zhou, Yan-Ping Wei, Chen-Hui Mao, Li-Ying Cui, Bin Peng, Ming Yao, Xin Chen   +8 more
doaj   +1 more source