(Q35473537)

8 August 2017

Muscle fibrillin deficiency in Marfan's syndrome myopathy (English)

1 reference

8 August 2017

W M H Behan

1

1 reference

8 August 2017

C Longman

2

1 reference

8 August 2017

R K H Petty

3

1 reference

8 August 2017

P Comeglio

4

1 reference

8 August 2017

A H Child

5

1 reference

8 August 2017

M Boxer

6

1 reference

8 August 2017

P Foskett

7

1 reference

8 August 2017

D G F Harriman

8

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 May 2003

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

8 August 2017

1 reference

8 August 2017

74

1 reference

8 August 2017

5

1 reference

8 August 2017

633-638

1 reference

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

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

The molecular genetics of Marfan syndrome and related microfibrillopathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Revised diagnostic criteria for the Marfan syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Marfan's syndrome and other microfibrillar diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

A calcitonin-secreting medullary thyroid carcinoma associated with mucosal neuromas, marfanoid features, myopathy and pigmentation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

The Marfan Syndrome: Diagnosis and Management

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Molecular analysis of eight mutations in FBN1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Dural ectasia and the diagnosis of Marfan's syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Microfibril-associated glycoprotein-2 (MAGP-2) is specifically associated with fibrillin-containing microfibrils but exhibits more restricted patterns of tissue localization and developmental expression than its structural relative MAGP-1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738457

Myopathy associated with Marfan's syndrome. Fine structural and histochemical observations

15 November 2018

1 reference

12 December 2020

Ocular myopathy and Marfan's syndrome. A family study

1 reference

12 December 2020

Arachnodactyly with unusual neuromyopathic and skeletal abnormalities

1 reference

12 December 2020

Familial myopathy associated with Marfanoid features and multicores

1 reference

12 December 2020

Multicore disease and Marfan's syndrome: a case report

1 reference

12 December 2020

[Marfan's disease and familial neuropathy with sausage-shaped swelling. A case of fortuitous association]

1 reference

12 December 2020

Mitochondrial abnormalities in the postviral fatigue syndrome

1 reference

12 December 2020

A rare combination of Marfan's syndrome, rheumatic heart disease and muscular dystrophy--a case report

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

1 reference

12 December 2020

Centronuclear myopathy with type I fibre hypotrophy and “Fingerprint” inclusions associated with Marfan's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.74.5.633

1 reference

8 August 2017

1 reference

8 August 2017

1 reference