Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. (Q34729624)

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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

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scholarly article

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Europe PubMed Central

PubMed publication ID

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)

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Europe PubMed Central

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4 August 2017

author name string

Nicholas J Neill

1

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4 August 2017

Blake C Ballif

2

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4 August 2017

Allen N Lamb

3

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4 August 2017

Sumit Parikh

4

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4 August 2017

J Britt Ravnan

5

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4 August 2017

Roger A Schultz

6

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4 August 2017

Beth S Torchia

7

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4 August 2017

Jill A Rosenfeld

8

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4 August 2017

Lisa G Shaffer

9

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4 August 2017

publication date

7 March 2011

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4 August 2017

Genome Research

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4 August 2017

21

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4 August 2017

4

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4 August 2017

535-544

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4 August 2017

describes a project that uses

fluorescence in situ hybridization

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

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

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Mechanisms for human genomic rearrangements

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

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

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

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

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

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

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

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

1 reference

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

1 reference

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

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Interchromosomal insertions. Identification of five cases and a review

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Fathers and sons: the Y chromosome and human evolution

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

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Intrachromosomal insertions: a case report and a review

1 reference

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7 July 2018

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

1 reference

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

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1 reference

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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.

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1 reference

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based on heuristic

inferred from PubMed ID database lookup

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10.1101/GR.114579.110

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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