Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Q35205978)

7 August 2017

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (English)

1 reference

7 August 2017

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9

Anne De Paepe

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Gabor Matyas

Gabor Matyas

14

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Bart L Loeys

Bart Loeys

13

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Christophe Beroud

Christophe Béroud

21

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Peter Robinson

Peter Robinson

18

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Catherine Boileau

Catherine Boileau

22

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Gwenaëlle Collod-Béroud

1

Gwenaëlle Collod-Béroud

1 reference

7 August 2017

Leena Peltonen-Palotie

16

Leena Peltonen

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7 August 2017

Saga Le Bourdelles

2

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7 August 2017

Lesley Ades

3

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7 August 2017

Leena Ala-Kokko

4

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7 August 2017

Patrick Booms

5

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7 August 2017

Maureen Boxer

6

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7 August 2017

Anne Child

7

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7 August 2017

Paolo Comeglio

8

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7 August 2017

James C Hyland

10

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7 August 2017

Katerine Holman

11

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7 August 2017

Ilkka Kaitila

12

1 reference

7 August 2017

Lieve Nuytinck

15

1 reference

7 August 2017

Terhi Rantamaki

17

1 reference

7 August 2017

Beat Steinmann

19

1 reference

7 August 2017

Claudine Junien

20

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7 August 2017

1 September 2003

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7 August 2017

10

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published in

Human Mutation

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7 August 2017

22

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7 August 2017

3

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7 August 2017

199-208

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A recurring FBN1 gene mutation in neonatal Marfan syndrome

7 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

APC gene: database of germline and somatic mutations in human tumors and cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

p53 gene mutation: software and database.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

p53 and APC gene mutations: software and databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Software and database for the analysis of mutations in the VHL gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

p53 gene mutation: software and database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The UMD-p53 database: new mutations and analysis tools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Revised genomic organization of FBN1 and significance for regulated gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Software and database for the analysis of mutations in the human FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Marfan syndrome in the third Millennium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The regulation of splice-site selection, and its role in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Stein and Moore Award address. Reconstructing history with amino acid sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

FBN1 exon 2 splicing error in a patient with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

A new missense mutation of fibrillin in a patient with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Software and database for the analysis of mutations in the human WT1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The ER translocon and retrotranslocation: is the shift into reverse manual or automatic?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

APC gene: database of germline and somatic mutations in human tumors and cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Secretory protein trafficking and organelle dynamics in living cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

Multi-exon deletions of the FBN1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

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.10249

7 January 2021

Endoplasmic reticulum-associated protein degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

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.10249

7 January 2021

An extracellular matrix protein of jellyfish homologous to mammalian fibrillins forms different fibrils depending on the life stage of the animal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Software and database for the analysis of mutations in the human LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

The UMD-LDLR database: additions to the software and 490 new entries to the database.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10249

7 January 2021

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.10249

7 January 2021

Identifiers

DOI

10.1002/HUMU.10249

1 reference

7 August 2017

1 reference