(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

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8 February 2018

Gwenaëlle Collod-Béroud

18

Gwenaëlle Collod-Béroud

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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

issue

2

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8 February 2018

page(s)

181-190

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8 February 2018

Ectopia lentis phenotypes and the FBN1 gene

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

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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

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Hereditary dysplasia of bone with kyphoscoliosis,contractures, and abnormally shaped ears

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

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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

21 January 2018

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

21 January 2018

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Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4

21 January 2018

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Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

21 January 2018

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FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

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Key residues involved in calcium-binding motifs in EGF-like domains

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Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

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

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

21 January 2018

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

21 January 2018

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A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

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Cardiac anomalies complicating congenital contractural arachnodactyly

21 January 2018

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Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues

21 January 2018

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A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

21 January 2018

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

21 January 2018

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Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins

21 January 2018

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Efficient association of an amino-terminally extended form of human latent transforming growth factor-beta binding protein with the extracellular matrix

21 January 2018

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

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

The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

21 January 2018

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

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

21 January 2018

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Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Cloning of rat fibrillin-2 cDNA and its role in branching morphogenesis of embryonic lung

21 January 2018

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Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils

21 January 2018

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Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

21 January 2018

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Extracellular matrix protein fibulin-2 is expressed in the embryonic endocardial cushion tissue and is a prominent component of valves in adult heart

21 January 2018

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A severe form of congenital contractural arachnodactyly in two newborn infants

21 January 2018

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21 January 2018

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A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

21 January 2018

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

7 January 2021

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

1 reference

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

7 January 2021

p53 gene mutation: software and database

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

8 February 2018