(Q59196040)

English

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

scientific article published on 18 May 2006

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scholarly article

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21 January 2020

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance (English)

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21 January 2020

cat eye syndrome

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inferred from title

2

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21 January 2020

Jeroen Knijnenburg

8

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21 January 2020

Carla Rosenberg

12

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21 January 2020

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Sarina G Kant

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21 January 2020

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Marjolein Kriek

1

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21 January 2020

Hans Dauwerse

5

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21 January 2020

Heike Fiegler

6

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21 January 2020

Stefan J White

4

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21 January 2020

Nigel P Carter

7

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21 January 2020

Johan T den Dunnen

9

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21 January 2020

Hans J Tanke

10

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21 January 2020

Martijn H Breuning

11

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21 January 2020

publication date

18 May 2006

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21 January 2020

1 reference

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21 January 2020

120

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21 January 2020

1

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21 January 2020

77-84

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21 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-006-0185-2

0 references

Recent segmental duplications in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication timing of the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insights from genomic microarrays into structural chromosome rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imbalances in mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of the pharyngeal arches

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defining the clinical spectrum of deletion 22q11.2

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders on 22q11

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://pubmed.ncbi.nlm.nih.gov/16708226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0185-2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16708226%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16708226%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

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