(Q33587466)

28 July 2017

title

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity (English)

1 reference

X-linked intellectual disability

28 July 2017

0 references

0 references

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

author

Hermann-Josef Lüdecke

9

Hermann-Josef Lüdecke

0 references

Karin Buiting

3

Johanna Christina Czeschik

Karin Buiting

0 references

1

Johanna Christina Czeschik

0 references

Encarna Guillén Navarro

Encarna Guillén-Navarro

5

0 references

author name string

Peter Bauer

2

1 reference

28 July 2017

Claudia Dufke

4

1 reference

28 July 2017

Diana S Johnson

6

1 reference

28 July 2017

Udo Koehler

7

1 reference

28 July 2017

Vanesa López-González

8

1 reference

28 July 2017

Alison Male

10

1 reference

28 July 2017

Deborah Morrogh

11

1 reference

28 July 2017

Angelika Rieß

12

1 reference

28 July 2017

Andreas Tzschach

13

1 reference

28 July 2017

Dagmar Wieczorek

14

1 reference

28 July 2017

Alma Kuechler

15

1 reference

28 July 2017

publication date

21 September 2013

1 reference

Orphanet Journal of Rare Diseases

28 July 2017

published in

1 reference

28 July 2017

volume

8

1 reference

28 July 2017

page(s)

146

1 reference

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Primer3--new capabilities and interfaces

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Proteolytic and non-proteolytic roles of ubiquitin and the ubiquitin proteasome system in transcriptional regulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Genetics of Early Onset Cognitive Impairment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Enhancements and modifications of primer design program Primer3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4015352

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-146

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-146

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-146

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24053514

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-146

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference