(Q48073221)

8 February 2018

title

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

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8 February 2018

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Christophe Béroud

17

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Catherine Boileau

Catherine Boileau

15

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Mireille Claustres

Mireille Claustres

16

1 reference

PubMed ID

18767143

8 February 2018

Gwenaëlle Collod-Béroud

18

Gwenaëlle Collod-Béroud

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PubMed ID

18767143

8 February 2018

Luitgard Graul-Neumann

8

Luitgard Neumann

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8 February 2018

Cheryl L Maslen

11

Cheryl Maslen

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8 February 2018

author name string

Melissa Yana Frédéric

1

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8 February 2018

Christine Monino

2

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8 February 2018

Christoph Marschall

3

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8 February 2018

Dalil Hamroun

4

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8 February 2018

Laurence Faivre

5

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8 February 2018

Guillaume Jondeau

6

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8 February 2018

Hanns-Georg Klein

7

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8 February 2018

Elodie Gautier

9

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8 February 2018

Christine Binquet

10

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8 February 2018

Maurice Godfrey

12

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8 February 2018

Prateek Gupta

13

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8 February 2018

Dianna Milewicz

14

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8 February 2018

publication date

1 February 2009

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8 February 2018

published in

Human Mutation

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8 February 2018

volume

30

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8 February 2018

page(s)

181-190

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8 February 2018

issue

2

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8 February 2018

Ectopia lentis phenotypes and the FBN1 gene

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

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

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A novel mutation of the fibrillin gene causing ectopia lentis

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

21 January 2018

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Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

21 January 2018

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Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development

21 January 2018

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21 January 2018

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The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

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https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

p53 gene mutation: software and database

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https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease

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https://api.crossref.org/works/10.1002%2FHUMU.20794

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.20794

7 January 2021

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

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https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

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https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20794

7 January 2021

Identifiers

DOI

10.1002/HUMU.20794

1 reference

8 February 2018

PubMed ID

18767143

1 reference

8 February 2018