(Q35661411)

9 August 2017

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title

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects (English)

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9 August 2017

2

Gerard Waeber

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9 August 2017

Wim Wuyts

1

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Wim Van Hul

object named as

Wim Van Hul

6

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author name string

Peter Meinecke

3

1 reference

9 August 2017

Herdit Schüler

4

1 reference

9 August 2017

Timm O Goecke

5

1 reference

9 August 2017

Oliver Bartsch

7

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9 August 2017

publication date

1 May 2004

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European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

12

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9 August 2017

issue

5

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9 August 2017

page(s)

400-406

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201163

9 August 2017

exact match

0 references

cites work

Burning down DEFECT11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

DEFECT 11 syndrome associated with agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Increased vulnerability to kainic acid-induced epileptic seizures in mice underexpressing the scaffold protein Islet-Brain 1/JIP-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Molecular and clinical examination of an Italian DEFECT 11 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

Gene dose effect: intraband mapping of the <i>LDH A </i>locus using cells from four individuals with different interstitial deletions of 11p

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201163

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201163

1 reference

9 August 2017

1 reference