(Q34729624)

English

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

4 August 2017

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. (English)

1 reference

Europe PubMed Central

4 August 2017

author name string

Nicholas J Neill

1

1 reference

Europe PubMed Central

4 August 2017

Blake C Ballif

2

1 reference

Europe PubMed Central

4 August 2017

Allen N Lamb

3

1 reference

Europe PubMed Central

4 August 2017

Sumit Parikh

4

1 reference

Europe PubMed Central

4 August 2017

J Britt Ravnan

5

1 reference

Europe PubMed Central

4 August 2017

Roger A Schultz

6

1 reference

Europe PubMed Central

4 August 2017

Beth S Torchia

7

1 reference

Europe PubMed Central

4 August 2017

Jill A Rosenfeld

8

1 reference

Europe PubMed Central

4 August 2017

Lisa G Shaffer

9

1 reference

Europe PubMed Central

4 August 2017

publication date

7 March 2011

1 reference

Europe PubMed Central

4 August 2017

Genome Research

1 reference

Europe PubMed Central

4 August 2017

21

1 reference

Europe PubMed Central

4 August 2017

535-544

1 reference

Europe PubMed Central

4 August 2017

4

1 reference

Europe PubMed Central

4 August 2017

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Mechanisms for human genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Emerging themes and new challenges in defining the role of structural variation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Inverted DNA repeats channel repair of distant double-strand breaks into chromatid fusions and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Rett syndrome: the complex nature of a monogenic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Interchromosomal insertions. Identification of five cases and a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Fathers and sons: the Y chromosome and human evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

A recent insertion of an alu element on the Y chromosome is a useful marker for human population studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Insertional translocations: report of two new families and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Intrachromosomal insertions: a case report and a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

7 July 2018

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

26 October 2018

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

26 October 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

26 October 2018

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

26 October 2018

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065701

26 October 2018

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

1 reference

https://pubmed.ncbi.nlm.nih.gov/21383316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/GR.114579.110

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34729624&oldid=1878925546"