Detection of the founder effect in Finnish CADASIL families. - Wikidata - wikimedia - TriplyDB

Detection of the founder effect in Finnish CADASIL families.

Detection of the founder effect in Finnish CADASIL families.

http://www.wikidata.org/entity/Q45065891

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Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain CADASIL and CARASIL.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.Identification of a known mutation in Notch 3 in familiar CADASIL in China.Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.APOE and AGT in the Finnish p.Arg133Cys CADASIL population.

P2860

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P2860

Detection of the founder effect in Finnish CADASIL families.

http://www.wikidata.org/entity/Q45065891

description

2004 nî lūn-bûn

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2004年の論文

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年學術文章

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2004年學術文章

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name

Detection of the founder effect in Finnish CADASIL families.

@en

Detection of the founder effect in Finnish CADASIL families.

@nl

type

label

Detection of the founder effect in Finnish CADASIL families.

@en

Detection of the founder effect in Finnish CADASIL families.

@nl

prefLabel

Detection of the founder effect in Finnish CADASIL families.

@en

Detection of the founder effect in Finnish CADASIL families.

@nl

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SJ.EJHG.5201221

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European Journal of Human Genetics

P1476

Detection of the founder effect in Finnish CADASIL families.

@en

P2093

Hannu Kalimo

http://www.w3.org/2001/XMLSchema#string

Johan Lundkvist

http://www.w3.org/2001/XMLSchema#string

Kati Mykkänen

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Maila Penttinen

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Marja-Liisa Savontaus

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Matti Viitanen

http://www.w3.org/2001/XMLSchema#string

Pertti Sistonen

http://www.w3.org/2001/XMLSchema#string

Seppo Tuisku

http://www.w3.org/2001/XMLSchema#string

Susanna Tuominen

http://www.w3.org/2001/XMLSchema#string

Vesa Juvonen

http://www.w3.org/2001/XMLSchema#string

P2860

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Notch signaling

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence.

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan.

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