(Q24530660)

2

Antoine

Snijders

1 reference

19 October 2023

Richard Segraves

3

Richard

Segraves

1 reference

19 October 2023

Anita Niebuhr

5

Anita

Niebuhr

1 reference

19 October 2023

Donna Albertson

6

Donna

Albertson

1 reference

19 October 2023

Erik Niebuhr

9

Erik

American Journal of Human Genetics

Niebuhr

1 reference

19 October 2023

language of work or name

English

0 references

publication date

February 2005

0 references

published in

0 references

volume

76

0 references

issue

2

0 references

page(s)

312-26

0 references

cites work

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Detection of large-scale variation in the human genome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Large-scale copy number polymorphism in the human genome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Genomic microarrays in human genetic disease and cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Fully automatic quantification of microarray image data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Assembly of microarrays for genome-wide measurement of DNA copy number

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Recent duplication, domain accretion and the dynamic mutation of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

5p14 deletion associated with microcephaly and seizures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

An integrated physical map for the short arm of human chromosome 5.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Chromosomal duplications in bacteria, fruit flies, and humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

An STS-based map of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196376

Cytologic observations in 35 individuals with a 5p- karyotype

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15635506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15635506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15635506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/427762

1 reference

release_tirusxowkbgy7bzw2j7ylxt6um

2421394

Fatcat ID

0 references

2421394

1 reference

1 reference

1 reference