A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. (Q35889756)

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29 October 2019

title

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977366%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

1 reference

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L Karttunen

1

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29 October 2019

M Raghunath

series ordinal

2

1 reference

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29 October 2019

L Lönnqvist

series ordinal

3

1 reference

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29 October 2019

L Peltonen

series ordinal

4

1 reference

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29 October 2019

language of work or name

English

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publication date

1 December 1994

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American Journal of Human Genetics

29 October 2019

published in

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29 October 2019

volume

55

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29 October 2019

issue

6

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29 October 2019

page(s)

1083-1091

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Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing

29 October 2019

cites work

1 reference

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

11 July 2018

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

11 July 2018

1 reference

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

11 July 2018

1 reference

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Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

11 July 2018

1 reference

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Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

11 July 2018

1 reference

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Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

11 July 2018

1 reference

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

11 July 2018

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Homozygosity for autosomal dominant Marfan syndrome

11 July 2018

1 reference

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Blot hybridisation analysis of genomic DNA

11 July 2018

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

11 July 2018

1 reference

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Homozygotes for Huntington's disease

11 July 2018

1 reference

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

11 July 2018

1 reference

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Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

11 July 2018

1 reference

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Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome

11 July 2018

1 reference

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Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

11 July 2018

1 reference

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Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency

11 July 2018

1 reference

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Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

11 July 2018

1 reference

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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

How an epidermal growth factor (EGF)-like domain binds calcium. High resolution NMR structure of the calcium form of the NH2-terminal EGF-like domain in coagulation factor X.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918427

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

27 July 2018

1 reference

12 December 2020

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

1 reference

12 December 2020

Probable Homozygotic Form of the Marfan Syndrome in a Newborn Child

1 reference

12 December 2020

Recessive inheritance of von Willebrand's disease type I

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 novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

12 December 2020

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977366%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference