(Q52573205)

3 May 2018

title

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers. (English)

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3 May 2018

1

Marzena Gajecka

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3 May 2018

author name string

Caron D Glotzbach

2

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3 May 2018

Malgorzata Jarmuz

3

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3 May 2018

Blake C Ballif

4

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3 May 2018

Lisa G Shaffer

5

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3 May 2018

publication date

30 August 2006

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3 May 2018

European Journal of Human Genetics

published in

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3 May 2018

volume

14

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3 May 2018

issue

12

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3 May 2018

page(s)

1255-1262

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3 May 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201710

exact match

0 references

cites work

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.

1 reference

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Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.

21 January 2018

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Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

Disruption of two novel genes by a translocation co-segregating with schizophrenia

21 January 2018

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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate

21 January 2018

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FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

21 January 2018

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Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

21 January 2018

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 January 2018

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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.

21 January 2018

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BLAT—The BLAST-Like Alignment Tool

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

The UCSC Genome Browser Database

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

Repbase update: a database and an electronic journal of repetitive elements

21 January 2018

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Tandem repeats finder: a program to analyze DNA sequences

21 January 2018

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Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

21 January 2018

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

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

21 January 2018

1 reference

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A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

inferred from DOI database lookup

7 January 2021

based on heuristic

Nonhomologous Robertsonian translocations form predominantly during female meiosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201710

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201710

1 reference

3 May 2018

Dimensions Publication ID

1028828536

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1 reference

3 May 2018