Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis-Reference-Cited by-同舟云学术

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

Published:2001-03-07 Issue:4 Volume:21 Page:279-283
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Bénit Paule,Bonnefont Jean-Paul,Kara Mostefa Ali,Francannet Christine,Munnich Arnold,Ray Pierre F.

Funder

French Bourneville Association (ASTB)

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference24 articles.

1. Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations;Bénit;Hum Mutat,1999

2. Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography;Bénit;Hum Mutat,2000

3. 9q34 loss of heterozygosity in tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for TSC1 gene;Carbonara;Hum Mol Genet,1994

4. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2;Choy;Ann Hum Genet,1999

5. The identification and characterization of the tuberous sclerosis gene on chromosome 16;European Chromosome 16 Tuberous Sclerosis Consortium;Cell,1993

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature;European Journal of Human Genetics;2024-05-28

2. Genetics of tuberous sclerosis complex: an update;Child's Nervous System;2020-08-06

3. Detecting Mutations in the APC Gene in Familial Adenomatous Polyposis (FAP);Current Protocols in Human Genetics;2006-07

4. Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis;Journal of the Formosan Medical Association;2006

5. Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6;The Journal of Molecular Diagnostics;2005-10

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