(Q28246857)

1

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Giuliana Gregato

2

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Blake C Ballif

3

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Caron D Glotzbach

4

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Kristen A Bailey

5

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Pao-Lin Kuo

6

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Whui-Chen Sue

7

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Leslie J Sheffield

8

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Mira Irons

9

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Enrique G Gomez

10

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Lorraine Potocki

12

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Lisa G Shaffer

European Journal of Human Genetics

13

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language of work or name

English

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publication date

May 2005

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published in

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volume

13

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page(s)

528-40

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issue

5

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

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.5201366

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.5201366

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.5201366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

DEFECT 11 syndrome associated with agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

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.5201366

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

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.5201366

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Automated screening for genomic imbalances using matrix-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular-evolutionary mechanisms for genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

The human cDNA for a homologue of the plant enzyme 1-aminocyclopropane-1-carboxylate synthase encodes a protein lacking that activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

The expression of the KAI1 gene, a tumor metastasis suppressor, is directly activated by p53

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Specific tetraspanin functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Genomic analysis of synaptotagmin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Light-independent role of CRY1 and CRY2 in the mammalian circadian clock.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

mCRY1 and mCRY2 are essential components of the negative limb of the circadian clock feedback loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

IB1 reduces cytokine-induced apoptosis of insulin-secreting cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

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.5201366

Islet-brain1/JNK-interacting protein-1 is required for early embryogenesis in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Peroxisome synthesis in the absence of preexisting peroxisomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Human disorders in N-glycosylation and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

Molecular and clinical examination of an Italian DEFECT 11 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

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.5201366

7 January 2021

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021

The natural history of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021

Identification of three 11p11.2 candidate liver tumor suppressors through analysis of known human genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201366

7 January 2021