(Q52085673)

English

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

scientific article published on 10 November 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Peter J Scambler

object named as

Peter Scambler

8

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author name string

Katrina Prescott

1

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Kathryn Woodfine

2

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Paula Stubbs

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Maurice Super

4

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Bronwyn Kerr

5

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Rodger Palmer

6

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

Nigel P Carter

7

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

publication date

10 November 2004

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

116

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

1-2

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

83-90

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

https://scigraph.springernature.com/pub.10.1007/s00439-004-1195-6

0 references

A chromosomal deletion map of human malformations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dorsoventral patterning in Xenopus: inhibition of ventral signals by direct binding of chordin to BMP-4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molybdenum cofactor-deficient mice resemble the phenotype of human patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene-targeted mice lacking the Ung uracil-DNA glycosylase develop B-cell lymphomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent segmental duplications in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activin-binding protein from rat ovary is follistatin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hidden gene amplifications in aggressive B-cell non-Hodgkin lymphomas detected by microarray-based comparative genomic hybridization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic link between Tbx1 and fibroblast growth factor signaling.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Follistatin, an antagonist of activin, is expressed in the Spemann organizer and displays direct neuralizing activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of MEKK1 in cell survival and activation of JNK and ERK pathways defined by targeted gene disruption

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution comparative genomic hybridisation in clinical cytogenetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of TBX1 in human del22q11.2 syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fully automatic quantification of microarray image data

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated, aging-dependent development of osteoarthritis in alpha1 integrin-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The alpha(2) integrin subunit-deficient mouse: a multifaceted phenotype including defects of branching morphogenesis and hemostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mouse homolog of Drosophila Vasa is required for the development of male germ cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amplicon mapping and transcriptional analysis pinpoint cyclin L as a candidate oncogene in head and neck cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted disruption of gp130, a common signal transducer for the interleukin 6 family of cytokines, leads to myocardial and hematological disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of activin subunits, activin receptors and follistatin in postimplantation mouse embryos suggests specific developmental functions for different activins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of the pelota gene causes early embryonic lethality and defects in cell cycle progression

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 22q11 deletion syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct binding of follistatin to a complex of bone-morphogenetic protein and its receptor inhibits ventral and epidermal cell fates in early Xenopus embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple defects and perinatal death in mice deficient in follistatin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vasculin, a novel vascular protein differentially expressed in human atherogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15549396

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-004-1195-6

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/15549396

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