TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies (Q47885926)

6 February 2018

title

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies (English)

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6 February 2018

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16

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6 February 2018

author name string

Stefanie Katzke

1

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6 February 2018

Patrick Booms

2

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6 February 2018

Frank Tiecke

3

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6 February 2018

Monika Palz

4

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6 February 2018

Angelika Pletschacher

5

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6 February 2018

Seval Türkmen

6

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6 February 2018

Luitgard M Neumann

7

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6 February 2018

Reinhard Pregla

8

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6 February 2018

Christa Leitner

9

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6 February 2018

Cornelia Schramm

10

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6 February 2018

Peter Lorenz

11

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6 February 2018

Christian Hagemeier

12

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6 February 2018

Josefine Fuchs

13

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6 February 2018

Flemming Skovby

14

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6 February 2018

Thomas Rosenberg

15

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6 February 2018

publication date

1 September 2002

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6 February 2018

published in

Human Mutation

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6 February 2018

volume

20

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6 February 2018

issue

3

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6 February 2018

page(s)

197-208

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6 February 2018

Revised genomic organization of FBN1 and significance for regulated gene expression

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Multi-exon deletions of the FBN1 gene in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Fibrillln mutations in Marfan syndrome and related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

The molecular genetics of Marfan syndrome and related microfibrillopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

The molecular pathogenesis of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

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.10112

7 January 2021

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.10112

7 January 2021

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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.10112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

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.10112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

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.10112

7 January 2021

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%2FHUMU.10112

7 January 2021

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.10112

7 January 2021

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.10112

7 January 2021

P1148A in fibrillin-1 is not a mutation anymore

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10112

7 January 2021

Identifiers

DOI

10.1002/HUMU.10112

1 reference

6 February 2018

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6 February 2018