(Q77880366)

English

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

scientific article published on 01 April 2002

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scholarly article

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8 December 2019

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene (English)

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Europe PubMed Central

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8 December 2019

Marfan syndrome

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inferred from title

1

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8 December 2019

Catherine Boileau

4

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8 December 2019

5

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8 December 2019

Dorothy Halliday

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object named as

Dorothy Halliday

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8 December 2019

author name string

Anne De Paepe

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8 December 2019

Beat Steinmann

6

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8 December 2019

publication date

1 April 2002

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8 December 2019

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8 December 2019

19

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8 December 2019

4

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8 December 2019

443-456

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8 December 2019

Base-base mismatches. Thermodynamics of double helix formation for dCA3XA3G + dCT3YT3G (X, Y = A,C,G,T).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Revised genomic organization of FBN1 and significance for regulated gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Marfan Database (third edition): new mutations and new routines for the software

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Identification of three novel mutations in the MYO7A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Marfan syndrome. Long-term survival and complications after aortic aneurysm repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Ascertainment and severity of Marfan syndrome in a Scottish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Identification of specific BRCA1 and BRCA2 variants by DHPLC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

G/A polymorphism in an intron of the fibrillin gene FBNI

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Low level mosaicism detectable by DHPLC but not by direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Influence of nearest neighbor sequence on the stability of base pair mismatches in long DNA; determination by temperature-gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Two-sided confidence intervals for the single proportion: comparison of seven methods

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

The Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Probable Inference, the Law of Succession, and Statistical Inference

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

21 January 2018

High-accuracy DNA sequence variation screening by DHPLC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiplex capillary denaturing high-performance liquid chromatography with laser-induced fluorescence detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10054

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10054

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933199%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11933199%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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