(Q35103765)

6 August 2017

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias (English)

1 reference

6 August 2017

Jean-Laurent Casanova

35

1 reference

6 August 2017

38

0 references

Valérie Cormier-Daire

39

Valérie Cormier-Daire

0 references

Martine Le Merrer

19

Martine Le Merrer

0 references

Andrea Superti-Furga

27

Andrea Superti-Furga

0 references

Christine Bôle-Feysot

32

Christine Bole-Feysot

0 references

Patrick Nitschké

33

Patrick Nitschke

1 reference

6 August 2017

Slimane Allali

4

0 references

Sacha Jensen

Sacha Jensen

6

0 references

Marianne Rohrbach

Marianne Rohrbach

24

0 references

Geert Mortier

Geert Mortier

21

0 references

Carine Le Goff

Carine Le Goff

1

0 references

Gwenaëlle Collod-Béroud

Gwenaelle Collod-Beroud

8

0 references

Catherine Boileau

Catherine Boileau

36

0 references

Sheila Unger

Sheila Unger

30

0 references

David Rimoin

28

David L Rimoin

1 reference

6 August 2017

5

Avinash Abhyankar

1 reference

6 August 2017

10

Yasemin Alanay

1 reference

6 August 2017

2

Clémentine Mahaut

1 reference

6 August 2017

14

David Genevieve

1 reference

6 August 2017

22

Sylvie Odent

1 reference

6 August 2017

23

Michel Polak

1 reference

6 August 2017

Irene Stolte-Dijkstra

26

Irene Stolte-Dijkstra

1 reference

6 August 2017

Lauren W Wang

3

1 reference

6 August 2017

Louise Zylberberg

7

1 reference

6 August 2017

Damien Bonnet

9

1 reference

6 August 2017

Angela F Brady

11

1 reference

6 August 2017

Marie-Pierre Cordier

12

1 reference

6 August 2017

Koen Devriendt

13

1 reference

6 August 2017

Pelin Özlem Simsek Kiper

15

1 reference

6 August 2017

Hiroshi Kitoh

16

1 reference

6 August 2017

Deborah Krakow

17

1 reference

6 August 2017

Sally Ann Lynch

18

1 reference

6 August 2017

André Mégarbane

20

1 reference

6 August 2017

David Sillence

25

1 reference

6 August 2017

Vicken Topouchian

29

1 reference

6 August 2017

Bernhard Zabel

31

1 reference

6 August 2017

Penny Handford

34

1 reference

6 August 2017

Suneel S Apte

37

1 reference

6 August 2017

language of work or name

English

0 references

publication date

16 June 2011

1 reference

American Journal of Human Genetics

6 August 2017

1 reference

6 August 2017

89

1 reference

6 August 2017

7-14

1 reference

6 August 2017

1

1 reference

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Comparative protein structure modeling using MODELLER

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135800

Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21683322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.05.012

1 reference

6 August 2017

1 reference

6 August 2017

1 reference