Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.
Cao Y et al.
International Journal of Molecular Sciences, 2024
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.
Nigon E et al.
Journal of Translational Medicine, 2023
Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.
Nogueira R et al.
Arquivos De Neuro-psiquiatria, 2023
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.
Wightman DP et al.
Scientific Reports, 2023
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn PJ et al.
Human Genomics, 2020
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.
Sun Y et al.
Medicine, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 2018
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.
Muiño E et al.
International Journal of Molecular Sciences, 2017
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
APOE and AGT in the Finnish p.Arg133Cys CADASIL population.
Siitonen M et al.
Acta Neurologica Scandinavica, 2015
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
Wollenweber FA et al.
Stroke, 2015
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Genetics of age-related white matter lesions from linkage to genome wide association studies.
Freudenberger P et al.
Journal of the Neurological Sciences, 2012
Genetics of subcortical vascular dementia.
Schmidt H et al.
Experimental Gerontology, 2012
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.
Guerreiro RJ et al.
Neurobiology of Aging, 2012
Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
Roy B et al.
Mutation Research, 2012
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
Schmidt H et al.
Brain : a Journal of Neurology, 2011
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.
Wang Z et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C et al.
Journal of Neuroscience Research, 2009
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Joutel A et al.
Lancet (london, England), 1997