(Q80305336)

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30 December 2019

title

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome (English)

1 reference

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30 December 2019

1 reference

1 reference

1

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30 December 2019

8

Thierry Carrel

1 reference

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30 December 2019

author name string

Sira Alonso

2

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30 December 2019

Andrea Patrignani

3

1 reference

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30 December 2019

Myriam Marti

4

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30 December 2019

Eliane Arnold

5

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30 December 2019

István Magyar

6

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30 December 2019

Caroline Henggeler

7

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30 December 2019

Beat Steinmann

9

1 reference

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30 December 2019

Wolfgang Berger

10

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30 December 2019

publication date

10 May 2007

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30 December 2019

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30 December 2019

volume

122

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30 December 2019

issue

1

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30 December 2019

page(s)

23-32

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0371-x

30 December 2019

exact match

0 references

cites work

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Robust estimators for expression analysis.

1 reference

12 December 2020

Quantification of single nucleotide polymorphisms by automated DNA sequencing

1 reference

12 December 2020

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

12 December 2020

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

1 reference

12 December 2020

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

1 reference

12 December 2020

Narrowing the deleted region associated with the 15q21 syndrome

1 reference

12 December 2020

Revised diagnostic criteria for the Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

1 reference

12 December 2020

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

1 reference

12 December 2020

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

1 reference

12 December 2020

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

12 December 2020

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

1 reference

12 December 2020

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

1 reference

12 December 2020

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

The molecular genetics of Marfan syndrome and related disorders

1 reference

12 December 2020

Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)]

1 reference

12 December 2020

Deletion of chromosome 15 represents a rare but recurrent chromosomal abnormality in myelocytic malignancies

1 reference

12 December 2020

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

1 reference

12 December 2020

Fibrillin-1 regulates the bioavailability of TGFbeta1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Revised genomic organization of FBN1 and significance for regulated gene expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

12 December 2020

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

1 reference

12 December 2020

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

1 reference

12 December 2020

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion

1 reference

12 December 2020

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

1 reference

12 December 2020

A genotype calling algorithm for affymetrix SNP arrays.

1 reference

12 December 2020

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome

1 reference

12 December 2020

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

1 reference

12 December 2020

Mouse models of genetic diseases resulting from mutations in elastic fiber proteins

1 reference

12 December 2020

Molecular analysis of eight mutations in FBN1.

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Multi-exon deletions of the FBN1 gene in Marfan syndrome

1 reference

12 December 2020

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

1 reference

12 December 2020

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

1 reference

12 December 2020

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

1 reference

12 December 2020