(Q56988782)

English

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

scientific article published on 20 March 2000

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

M Palz

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

F Tiecke

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

P Booms

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

B Göldner

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Rosenberg

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J Fuchs

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

F Skovby

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Schumacher

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

U C Kaufmann

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y von Kodolitsch

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C A Nienaber

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Leitner

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Katzke

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

B Vetter

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Hagemeier

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 March 2000

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

91

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

212-221

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-HinfI-I background in a myotonic dystrophy patient from India. Mutations in brief no. 210. Online

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Binary specification of nonsense codons by splicing and cytoplasmic translation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

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%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000320%2991%3A3%3C212%3A%3AAID-AJMG12%3E3.0.CO%3B2-3

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(20000320)91:3<212::AID-AJMG12>3.0.CO;2-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10756346%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q56988782&oldid=2188229088"