(Q55442996)

10 July 2018

title

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

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10 July 2018

author

Jerry Vockley

6

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10 July 2018

author name string

Craig Horbinski

1

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10 July 2018

Erika M Carter

2

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10 July 2018

Patricia L Heard

3

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10 July 2018

Malini Sathanoori

4

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10 July 2018

Jie Hu

5

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10 July 2018

Shelly Gunn

7

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10 July 2018

Daniel E Hale

8

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10 July 2018

Urvashi Surti

9

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10 July 2018

Jannine D Cody

10

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10 July 2018

language of work or name

English

0 references

publication date

1 November 2008

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10 July 2018

American Journal of Medical Genetics

published in

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10 July 2018

volume

146A

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10 July 2018

issue

22

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10 July 2018

page(s)

2898-2904

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10 July 2018

Genomic rearrangements and sporadic disease

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Spatial genome organization in the formation of chromosomal translocations

15 July 2018

1 reference

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Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)

15 July 2018

1 reference

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Palindrome-mediated chromosomal translocations in humans

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Common chromatin structures at breakpoint cluster regions may lead to chromosomal translocations found in chronic and acute leukemias

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Non-B DNA structure-induced genetic instability

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Breakpoints of gross deletions coincide with non-B DNA conformations

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Fatal connections: when DNA ends meet on the nuclear matrix.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Molecular cloning of a translocation breakpoint hotspot in 22q11.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584776

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q

12 August 2018

1 reference

12 December 2020

Growth hormone insufficiency associated with haploinsufficiency at 18q23

1 reference

12 December 2020

Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH

1 reference

12 December 2020

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32557

1 reference

10 July 2018

PMC publication ID

2584776

1 reference

10 July 2018

PubMed publication ID

18932219

1 reference

10 July 2018