(Q24647461)

1

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Erika M Carter

2

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Analisa C Crandall

3

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Courtney Sebold

4

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Daniel E Hale

5

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Jannine D Cody

American Journal of Medical Genetics Part A

6

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language of work or name

English

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publication date

July 2009

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published in

1 reference

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

volume

149A

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issue

7

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page(s)

1431-7

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Monosomy 1p36 deletion syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

A comprehensive analysis of common copy-number variations in 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=2731576

Deletion of exon I of SMAD7 in mice results in altered B cell responses.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Study of somatic chromosomes from 9 mongoloid children

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Identification of cryptic rearrangements in patients with 18q- deletion 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=2731576

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32900

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

The 11q terminal deletion disorder: a prospective study of 110 cases.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731576

Molecular characterization of 18p deletions: evidence for a breakpoint cluster

28 November 2018

1 reference

12 December 2020

Familial occurrence of 18q

1 reference

12 December 2020

Preferential loss of the paternal alleles in the 18q- syndrome

1 reference

12 December 2020

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

1 reference

12 December 2020

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32900

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.A.32900

1 reference

1 reference

1 reference

PubMed publication ID

19533772

1 reference