(Q51929767)

17 April 2018

title

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. (English)

1 reference

17 April 2018

author name string

Mahmoud Reza Mansouri

1

1 reference

17 April 2018

Lena Marklund

2

1 reference

17 April 2018

Peter Gustavsson

3

1 reference

17 April 2018

Edward Davey

4

1 reference

17 April 2018

Birgit Carlsson

5

1 reference

17 April 2018

Catharina Larsson

6

1 reference

17 April 2018

Irene White

7

1 reference

17 April 2018

Karl-Henrik Gustavson

8

1 reference

17 April 2018

Niklas Dahl

9

1 reference

17 April 2018

publication date

1 August 2005

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17 April 2018

European Journal of Human Genetics

published in

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17 April 2018

volume

13

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17 April 2018

page(s)

970-977

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17 April 2018

issue

8

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17 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201445

exact match

0 references

cites work

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Nonsyndromic X-linked mental retardation: where are the missing mutations?

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X-linked mental retardation

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Monogenic causes of X-linked mental retardation.

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Genes for cognitive function: developments on the X.

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Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

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Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

21 January 2018

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First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

21 January 2018

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Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes

21 January 2018

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Position-effect variegation and the new biology of heterochromatin

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Chromatin multiprotein complexes involved in the maintenance of transcription patterns

21 January 2018

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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

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Identification of a Ras palmitoyltransferase in Saccharomyces cerevisiae.

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The yeast DHHC cysteine-rich domain protein Akr1p is a palmitoyl transferase

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Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins

21 January 2018

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Protein palmitoylation: a regulator of neuronal development and function

21 January 2018

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21 January 2018

XLMR genes: Update 1998

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inferred from DOI database lookup

7 January 2021

based on heuristic

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201445

inferred from DOI database lookup

7 January 2021

based on heuristic

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201445

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201445

1 reference

17 April 2018

PubMed ID

15915161

1 reference

17 April 2018