(Q34665890)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17712354%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband (English)

1 reference

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3 January 2020

0 references

1

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3 January 2020

Helen Leonard

9

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3 January 2020

John Christodoulou

13

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3 January 2020

author name string

Kirsten Reuter

2

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3 January 2020

Sarah L Williamson

3

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3 January 2020

Vidya Vasudevan

4

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3 January 2020

Jennifer Donald

5

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3 January 2020

Katrina Slater

6

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3 January 2020

Bruce Bennetts

7

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3 January 2020

Ami Bebbington

8

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3 January 2020

Simon R Williams

10

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3 January 2020

Robert L Smith

11

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3 January 2020

Desiree Cloosterman

12

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3 January 2020

publication date

22 August 2007

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European Journal of Human Genetics

3 January 2020

published in

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3 January 2020

volume

15

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3 January 2020

issue

12

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3 January 2020

page(s)

1218-1229

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Rett syndrome in Australia: a review of the epidemiology.

3 January 2020

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

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Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

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Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

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Describing the phenotype in Rett syndrome using a population database

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Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

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One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

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A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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Early progressive encephalopathy in boys and MECP2 mutations

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