(Q36883370)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9302263%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. (English)

1 reference

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6 November 2019

7

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6 November 2019

J. Raymond DePaulo

16

1 reference

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6 November 2019

author name string

T S Breschel

1

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6 November 2019

M G McInnis

2

1 reference

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6 November 2019

R L Margolis

3

1 reference

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6 November 2019

G Sirugo

4

1 reference

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6 November 2019

B Corneliussen

5

1 reference

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6 November 2019

S G Simpson

6

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6 November 2019

D F MacKinnon

8

1 reference

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6 November 2019

J F Xu

9

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6 November 2019

N Pleasant

10

1 reference

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6 November 2019

Y Huo

11

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6 November 2019

R G Ashworth

12

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6 November 2019

C Grundstrom

13

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6 November 2019

T Grundstrom

14

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6 November 2019

K K Kidd

15

1 reference

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6 November 2019

C A Ross

17

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6 November 2019

publication date

1 October 1997

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6 November 2019

published in

Human Molecular Genetics

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6 November 2019

volume

6

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6 November 2019

issue

11

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6 November 2019

page(s)

1855-1863

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The expanding world of trinucleotide repeats

6 November 2019

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Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

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Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

21 January 2018

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Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

21 January 2018

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Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders

21 January 2018

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

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Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

21 January 2018

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

21 January 2018

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

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Human genes containing polymorphic trinucleotide repeats

21 January 2018

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Development of a screening set for new (CAG/CTG)n dynamic mutations

21 January 2018

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Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the Repeat Expansion Detection method.

21 January 2018

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Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene

21 January 2018

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Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23.

21 January 2018

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Genes with triplet repeats: candidate mediators of neuropsychiatric disorders

21 January 2018

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Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif

21 January 2018

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Strategies for multilocus linkage analysis in humans

21 January 2018

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Direct detection of novel expanded trinucleotide repeats in the human genome

21 January 2018

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Assessment of lineality in bipolar I linkage studies

21 January 2018

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A diagnostic interview: the schedule for affective disorders and schizophrenia

21 January 2018

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Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization

21 January 2018

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Cloning and sequence analysis of TFE, a helix-loop-helix transcription factor able to recognize the thyroglobulin gene promoter in vitro

21 January 2018

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A splice variant of the ITF-2 transcript encodes a transcription factor that inhibits MyoD activity

21 January 2018

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A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins

21 January 2018

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B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

21 January 2018

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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

21 January 2018

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21 January 2018

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Expanded CAG repeats in schizophrenia and bipolar disorder

21 January 2018

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