(Q47775068)

5 February 2018

title

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome (English)

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5 February 2018

8

Kerstin Kutsche

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5 February 2018

Endre Czeizel

4

object named as

Andrew E Czeizel

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5 February 2018

author name string

Markéta Sutajová

1

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5 February 2018

Ursula Neukirchen

2

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5 February 2018

Peter Meinecke

3

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5 February 2018

László Tímár

5

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5 February 2018

Enikö Sólyom

6

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5 February 2018

Andreas Gal

7

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5 February 2018

publication date

1 May 2004

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5 February 2018

published in

Genomics

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5 February 2018

volume

83

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5 February 2018

issue

5

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5 February 2018

page(s)

883-892

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5 February 2018

Costello syndrome: an overview

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Studies on the pathogenesis of Costello syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Is the locus for Costello syndrome on 11p?

7 January 2021

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Hungarian case with Costello syndrome and translocation t(1,22)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Mechanism of action and in vivo role of platelet-derived growth factor

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

PDGF-D is a specific, protease-activated ligand for the PDGF beta-receptor

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

PDGF-D, a new protease-activated growth factor

7 January 2021

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Novel PDGF family members: PDGF-C and PDGF-D.

7 January 2021

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A novel mechanism regulating growth factor association with the cell surface: identification of a PDGF retention domain

7 January 2021

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

7 January 2021

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

7 January 2021

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Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

7 January 2021

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One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

7 January 2021

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Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

7 January 2021

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Haplotype variation and linkage disequilibrium in 313 human genes

7 January 2021

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Identification of a cell retention signal in the B-chain of platelet-derived growth factor and in the long splice version of the A-chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Compartmentalization of PDGF on extracellular binding sites dependent on exon-6-encoded sequences

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Accumulation of PDGF B and cell-binding forms of PDGF A in the extracellular matrix

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Extracellular matrix is a source of mitogenically active platelet-derived growth factor

7 January 2021

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Differences in binding to the solid substratum and extracellular matrix may explain isoform-specific paracrine effects of platelet-derived growth factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Regulation of the spatial organization of mesenchymal connective tissue: effects of cell-associated versus released isoforms of platelet-derived growth factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Further delineation of cardiac abnormalities in Costello syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

Base sequence studies of 300 nucleotide renatured repeated human DNA clones

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2003.10.012

10.1016/J.YGENO.2003.10.012

7 January 2021

Identifiers

DOI

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5 February 2018

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5 February 2018