(Q45353362)

English

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

scientific article published in June 2009

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scholarly article

1 reference

Europe PubMed Central

13 December 2017

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. (English)

1 reference

Europe PubMed Central

13 December 2017

Christophe Beroud

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Christophe Béroud

6

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Catherine Boileau

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Catherine Boileau

3

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Mireille Claustres

5

object named as

Mireille Claustres

1 reference

Europe PubMed Central

13 December 2017

Gwenaëlle Collod-Béroud

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Gwenaëlle Collod-Béroud

7

1 reference

Europe PubMed Central

13 December 2017

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Mélissa Yana Frédéric

1

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Europe PubMed Central

13 December 2017

Marine Lalande

2

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Europe PubMed Central

13 December 2017

Dalil Hamroun

4

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Europe PubMed Central

13 December 2017

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1 June 2009

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Europe PubMed Central

13 December 2017

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Europe PubMed Central

13 December 2017

30

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Europe PubMed Central

13 December 2017

6

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Europe PubMed Central

13 December 2017

952-959

1 reference

Europe PubMed Central

13 December 2017

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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UMD (Universal Mutation Database): 2005 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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SNAP: predict effect of non-synonymous polymorphisms on function

1 reference

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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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.20970

7 January 2021

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inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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Amino acid substitution matrices from protein blocks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Analysis of the DYSF mutational spectrum in a large cohort of patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Variation is the spice of life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Positive and negative regulation of type II TGF-beta receptor signal transduction by autophosphorylation on multiple serine residues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Fibrillin-1 and -2 contain heparin-binding sites important for matrix deposition and that support cell attachment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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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.20970

7 January 2021

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157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

based on heuristic

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In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20970

7 January 2021

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Identifiers

10.1002/HUMU.20970

1 reference

Europe PubMed Central

13 December 2017

1 reference

Europe PubMed Central

13 December 2017

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