Search Results

Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain.

• Authors : Fouillade, Charles; Chabriat, Hugues; Riant, Florence

• Source: Human Mutation; Mar2008, Vol. 29 Issue 3, p452-452, 1p

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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

• Authors : Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Subjects: Alleles* ; Phenotype*; CADASIL/CADASIL/CADASIL/*diagnosis

• Source: Human mutation [Hum Mutat] 2013 Nov; Vol. 34 (11), pp. 1486-9. Date of Electronic Publication: 2013 Oct 07.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Loss-of-function mutation in the NOTCH3 gene: simply a polymorphism?

• Authors : Joutel A; INSERM and Université Paris Diderot, France.

Subjects: Alleles* ; Phenotype*; CADASIL/CADASIL/CADASIL/*diagnosis

• Source: Human mutation [Hum Mutat] 2013 Nov; Vol. 34 (11), pp. v.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

• Authors : Smith CG; Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.; Naven M

Subjects: Genes, Tumor Suppressor* ; Genetic Predisposition to Disease* ; Germ-Line Mutation*

• Source: Human mutation [Hum Mutat] 2013 Jul; Vol. 34 (7), pp. 1026-34. Date of Electronic Publication: 2013 May 20.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

• Authors : Escary JL; Centre National de Génotypage, Evry, France.; Cécillon M

Subjects: Receptors, Cell Surface*; Chromatography, High Pressure Liquid/Chromatography, High Pressure Liquid/Chromatography, High Pressure Liquid/*methods ; Cytosine/Cytosine/Cytosine/*analysis

• Source: Human mutation [Hum Mutat] 2000 Dec; Vol. 16 (6), pp. 518-26.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.

• Authors : Grigg R; Genomics Research Centre, School of Health Science, Griffith University, Gold Coast, Queensland 4217.; Lea R

Subjects: Cysteine/Cysteine/Cysteine/*genetics ; Dementia, Multi-Infarct/Dementia, Multi-Infarct/Dementia, Multi-Infarct/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

• Source: Human mutation [Hum Mutat] 2000 Nov; Vol. 16 (5), pp. 449-50.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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