(Q43565706)

24 November 2017

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis (English)

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high-performance liquid chromatography

24 November 2017

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6

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24 November 2017

5

Munnich A

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24 November 2017

Bénit P

1

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24 November 2017

Bonnefont JP

series ordinal

2

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24 November 2017

Kara Mostefa A

series ordinal

3

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24 November 2017

Francannet C

series ordinal

4

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24 November 2017

1 April 2001

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24 November 2017

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24 November 2017

21

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24 November 2017

4

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24 November 2017

279-283

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

24 November 2017

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Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

21 January 2018

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

21 January 2018

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A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region

21 January 2018

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Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

21 January 2018

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Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

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Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

21 January 2018

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Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

21 January 2018

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Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

21 January 2018

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 January 2018

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

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Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

21 January 2018

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Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

21 January 2018

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Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

21 January 2018

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9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

21 January 2018

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Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

21 January 2018

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A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

21 January 2018

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Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

21 January 2018

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Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound

21 January 2018

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Magnetic resonance imaging in antenatal diagnosis of tuberous sclerosis

21 January 2018

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Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

21 January 2018

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Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis

21 January 2018

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A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PD.55

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24 November 2017

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