(Q40798951)

23 September 2017

title

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients (English)

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ORCID Public Data File 2021

23 September 2017

main subject

Smith-Magenis syndrome

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1 reference

author name string

Seranski P

1

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23 September 2017

Hoff C

2

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23 September 2017

Radelof U

3

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23 September 2017

Hennig S

4

1 reference

23 September 2017

Reinhardt R

5

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23 September 2017

Schwartz CE

6

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23 September 2017

Heiss NS

7

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23 September 2017

Poustka A

8

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23 September 2017

language of work or name

English

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publication date

1 May 2001

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23 September 2017

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23 September 2017

volume

270

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23 September 2017

issue

1-2

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23 September 2017

page(s)

69-76

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Identification and characterization of the gene causing type 1 spinocerebellar ataxia

23 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900415-2

7 January 2021

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900415-2

7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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7 January 2021

Expression of neurofilament proteins during retinoic acid-induced differentiation of P19 embryonal carcinoma cells

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7 January 2021

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

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7 January 2021

Definition of the critical interval for Smith-Magenis syndrome

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7 January 2021

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

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7 January 2021

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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7 January 2021

Human TOP3: a single-copy gene encoding DNA topoisomerase III

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900415-2

7 January 2021

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

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7 January 2021

Molecular cloning of androgen receptors from divergent species with a polymerase chain reaction technique: complete cDNA sequence of the mouse androgen receptor and isolation of androgen receptor cDNA probes from dog, guinea pig and clawed frog

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7 January 2021

Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900415-2

7 January 2021

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

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7 January 2021

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

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7 January 2021

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

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7 January 2021

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

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7 January 2021

The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

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7 January 2021

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

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7 January 2021

Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]

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7 January 2021

Hairless, a Drosophila gene involved in neural development, encodes a novel, serine rich protein

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7 January 2021

Retinoic acid-induced asymmetric craniofacial growth and cleft palate in the TO mouse fetus

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7 January 2021

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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7 January 2021

Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.

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7 January 2021

Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

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7 January 2021

Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes

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7 January 2021

Interstitial deletion of (17)(p11.2p11.2) in nine patients

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7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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7 January 2021

Ordering of 66 STSs along the entire short arm of human chromosome 17 and chromosome assignment of a transcribed sequence (FMR1L2) homologous to FMR1.

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7 January 2021

Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs

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7 January 2021

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

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7 January 2021

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Identifiers

DOI

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23 September 2017

1 reference