(Q36099630)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7632217%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

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

1 reference

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22 October 2019

1 reference

2

1 reference

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22 October 2019

Catherine Boileau

10

1 reference

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22 October 2019

author name string

G Collod

1

1 reference

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22 October 2019

G Jondeau

3

1 reference

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22 October 2019

M Coulon

4

1 reference

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22 October 2019

J Weissenbach

5

1 reference

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22 October 2019

O Dubourg

6

1 reference

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22 October 2019

J P Bourdarias

7

1 reference

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22 October 2019

C Bonaïti-Pellié

8

1 reference

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22 October 2019

C Junien

9

1 reference

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22 October 2019

language of work or name

English

0 references

publication date

1 November 1994

1 reference

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22 October 2019

1 reference

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22 October 2019

volume

8

1 reference

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22 October 2019

issue

3

1 reference

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22 October 2019

page(s)

264-268

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1194-264

22 October 2019

exact match

0 references

cites work

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

2 October 2017

1 reference

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Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Strategies for multilocus linkage analysis in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Diagnosis and classification of severity of mitral valve prolapse: methodologic, biologic, and prognostic considerations

2 October 2017

1 reference

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An exclusion map of Marfan syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

A second-generation linkage map of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

The Marfan Syndrome: Diagnosis and Management

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Marfan syndrome or Marfan-like connective-tissue disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Effects of misspecifying genetic parameters in lod score analysis.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Acceleration of nucleic acid hybridization rate by polyethylene glycol

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2045693

Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 9.

27 July 2018

1 reference

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

23 September 2018

1 reference

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Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum

21 October 2018

1 reference

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Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 16

5 December 2018

1 reference

12 December 2020

The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue

1 reference

12 December 2020

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

12 December 2020

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

1 reference

12 December 2020

Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 6

1 reference

12 December 2020

Report and abstracts of the Fourth International Workshop on Human Chromosome 3 Mapping

1 reference

12 December 2020

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG1194-264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7632217%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7632217%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

7632217

1 reference