Detection of the founder effect in Finnish CADASIL families

scientific article published in October 2004

Detection of the founder effect in Finnish CADASIL families is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1030443669
P356DOI10.1038/SJ.EJHG.5201221
P698PubMed publication ID15378071
P5875ResearchGate publication ID8336978

P50authorMinna PöyhönenQ57027737
P2093author name stringJohan Lundkvist
Hannu Kalimo
Matti Viitanen
Seppo Tuisku
Susanna Tuominen
Kati Mykkänen
Vesa Juvonen
Maila Penttinen
Pertti Sistonen
Marja-Liisa Savontaus
P2860cites workThe ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patientsQ24629786
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASILQ28143970
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patientsQ28255796
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementiaQ28294011
Notch signalingQ29618190
High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequenceQ34020383
Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyQ34295928
Finnish Disease Heritage I: characteristics, causes, backgroundQ34531986
A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patientQ34658824
Linkage disequilibrium mapping in isolated populations: the example of Finland revisitedQ34754002
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in JapanQ40615837
Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL.Q42492781
Genetic homogeneity of lysinuric protein intoleranceQ42536851
Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaQ42632183
Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndromeQ43539551
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of strokeQ44075699
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in FinlandQ47296707
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domainsQ47852886
CADASIL in a North American family: clinical, pathologic, and radiologic findingsQ48390442
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia onlyQ48444580
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathyQ48642657
DMLE+: Bayesian linkage disequilibrium gene mapping.Q52038187
Diagnostic strategies in CADASILQ73563077
Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 geneQ73935465
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutationQ74312798
The phenotypic spectrum of CADASIL: clinical findings in 102 casesQ77568574
P433issue10
P921main subjectFinlandQ33
founder effectQ504568
P304page(s)813-819
P577publication date2004-10-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleDetection of the founder effect in Finnish CADASIL families
P478volume12

Reverse relations

cites work (P2860)
Q48257499APOE and AGT in the Finnish p.Arg133Cys CADASIL population
Q30861866CADASIL and CARASIL.
Q35143551Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
Q33775902Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease
Q35755963Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
Q90287624Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China
Q38677884Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Q30487788Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
Q48173961Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.
Q35008186Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease
Q34279725Identification of a known mutation in Notch 3 in familiar CADASIL in China
Q30435104Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood
Q59698098Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL
Q92826566Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL
Q92583917Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
Q48726586Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese
Q35868667Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.
Q37808273Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
Q45288697The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation

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