(Q46748916)

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Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

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Axel Haverich

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

author name string

Kathrin Rommel

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Matthias Karck

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Yskert von Kodolitsch

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Meike Rybczynski

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Götz Müller

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Krishna K Singh

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Jörg Schmidtke

8

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

Mine Arslan-Kirchner

9

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

publication date

1 December 2005

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

26

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

529-539

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

GENETIC FIBRILLINOPATHIES : NEW INSIGHTS IN MOLECULAR DIAGNOSIS AND CLINICAL MANAGEMENT

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

21 January 2018

Ectopia lentis phenotypes and the FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three novel mutations in the MYO7A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Defective calcium binding to fibrillin-1: consequence of an N2144S change for fibrillin-1 structure and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20239

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20239

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16220557

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