(Q36718273)

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

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Europe PubMed Central

PMC publication ID

15 August 2017

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation (English)

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15 August 2017

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Lucianne Vandeleur

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Lucianne Vandeleur

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Hilde Van Esch

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Annabel Whibley

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Annabel Whibley

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Frédéric Laumonnier

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Frederic Laumonnier

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Damien Sanlaville

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Damien Sanlaville

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P. Andrew Futreal

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P Andrew Futreal

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15 August 2017

Michael Stratton

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Michael R Stratton

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Patrick S. Tarpey

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Patrick S Tarpey

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Jean-Pierre Fryns

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Jean-Pierre Fryns

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Karen Govaerts

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Joke Vandewalle

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Joke Vandewalle

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Hans van Bokhoven

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Hans van Bokhoven

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Hans-Hilger Ropers

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Hans-Hilger Ropers

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Gillian Turner

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15 August 2017

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Guy Froyen

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15 August 2017

Mark Corbett

2

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15 August 2017

Irma Jarvela

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15 August 2017

Owen Lawrence

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Cliff Meldrum

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Marijke Bauters

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15 August 2017

Jamel Chelly

11

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Enzo Ranieri

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Charles E Schwartz

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Fatima Abidi

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F Lucy Raymond

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Rodney Scott

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Maarit Peippo

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Marjatta Sipponen

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Michael Partington

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David Mowat

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Michael Field

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Anna Hackett

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Peter Marynen

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publication date

24 January 2008

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15 August 2017

American Journal of Human Genetics

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15 August 2017

82

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15 August 2017

2

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15 August 2017

432-443

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15 August 2017

High-resolution genomic microarrays for X-linked mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2426915

30 September 2017

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2426915

30 September 2017

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2426915

30 September 2017

Emerging roles for ubiquitin and protein degradation in neuronal function

1 reference

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30 September 2017

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2426915

30 September 2017

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

1 reference

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30 September 2017

The role of neuronal complexes in human X-linked brain diseases

1 reference

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30 September 2017

Inborn errors of isoleucine degradation: a review

1 reference

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30 September 2017

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

1 reference

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30 September 2017

X-linked mental retardation: many genes for a complex disorder

1 reference

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30 September 2017

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

1 reference

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3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease

1 reference

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30 September 2017

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

1 reference

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Maintaining appearances--the role of p53 in adult neurogenesis

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30 September 2017

X-inactivation profile reveals extensive variability in X-linked gene expression in females

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30 September 2017

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

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30 September 2017

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

1 reference

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30 September 2017

Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 protein

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The ubiquitin-proteasome pathway in Parkinson"s disease and other neurodegenerative diseases

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30 September 2017

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

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The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain

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30 September 2017

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

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30 September 2017

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

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20 October 2018

Identifiers

10.1016/J.AJHG.2007.11.002

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Europe PubMed Central

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15 August 2017

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Europe PubMed Central

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15 August 2017

PubMed publication ID

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Europe PubMed Central

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15 August 2017

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