(Q58612720)

English

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

scientific article published on 01 April 2006

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scholarly article

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17 January 2020

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases (English)

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17 January 2020

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17 January 2020

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17 January 2020

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17 January 2020

Peter K.A. Jensen

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Peter K A Jensen

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17 January 2020

author name string

Mads Hjorth

2

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17 January 2020

Merete Bugge

3

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17 January 2020

Søren Holstebroe

4

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17 January 2020

Jørgen Hilden

5

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17 January 2020

Karen Brondum-Nielsen

7

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17 January 2020

Gert Bruun-Petersen

8

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17 January 2020

Claes Lundsteen

10

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17 January 2020

Erik Niebuhr

11

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17 January 2020

Kirsten Rasmussen

12

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17 January 2020

publication date

1 April 2006

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17 January 2020

European Journal of Human Genetics

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17 January 2020

14

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17 January 2020

410-417

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17 January 2020

4

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17 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201592

0 references

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

1 reference

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21 January 2018

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

1 reference

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21 January 2018

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

1 reference

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21 January 2018

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

1 reference

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21 January 2018

Sequence variants in SLITRK1 are associated with Tourette's syndrome

1 reference

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21 January 2018

Chromosomal abnormalities and mental illness.

1 reference

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21 January 2018

An excess of chromosome 1 breakpoints in male infertility

1 reference

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21 January 2018

Cytogenetic abnormalities on chromosome 18 associated with bipolar affective disorder or schizophrenia.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

1 reference

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21 January 2018

Confirmation of a dyslexia susceptibility locus on chromosome 1p34-p36 in a set of 100 Canadian families

1 reference

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21 January 2018

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

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21 January 2018

Genomewide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201592

21 January 2018

A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder.

1 reference

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21 January 2018

The genetics of psoriasis and autoimmunity

1 reference

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21 January 2018

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201592

21 January 2018

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

1 reference

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21 January 2018

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

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21 January 2018

A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.

1 reference

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21 January 2018

Identification of a variant associated with adult-type hypolactasia

1 reference

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21 January 2018

X chromosome constitution and the human female phenotype

1 reference

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21 January 2018

Length and variation in the menstrual cycle--a cross-sectional study from a Danish county.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201592

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of heterozygosity at 11q23.3 in vasculoinvasive and metastatic squamous cell carcinoma of the cervix

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201592

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201592

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16493440%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

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