Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability (Q36036336)

11 August 2017

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability (English)

1 reference

11 August 2017

0 references

Verena Rupp

6

0 references

Michaela Frye

object named as

Michaela Frye

17

0 references

Roland Malli

object named as

Roland Malli

8

0 references

author name string

Muzammil Ahmad Khan

1

1 reference

11 August 2017

Muhammad Arshad Rafiq

2

1 reference

11 August 2017

Abdul Noor

3

1 reference

11 August 2017

Shobbir Hussain

4

1 reference

11 August 2017

Joana V Flores

5

1 reference

11 August 2017

Akshita K Vincent

7

1 reference

11 August 2017

Ghazanfar Ali

9

1 reference

11 August 2017

Falak Sher Khan

10

1 reference

11 August 2017

Gisele E Ishak

11

1 reference

11 August 2017

Dan Doherty

12

1 reference

11 August 2017

Rosanna Weksberg

13

1 reference

11 August 2017

Muhammad Ayub

14

1 reference

11 August 2017

Christian Windpassinger

15

1 reference

11 August 2017

Shahnaz Ibrahim

16

1 reference

11 August 2017

Muhammad Ansar

18

1 reference

11 August 2017

John B Vincent

19

1 reference

11 August 2017

language of work or name

English

0 references

publication date

26 April 2012

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

90

1 reference

11 August 2017

856-863

1 reference

11 August 2017

5

1 reference

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

The genetic basis of non-syndromic intellectual disability: a review

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

In search of nonribosomal nucleolar protein function and regulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Genetics of intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Growth of Pakistani children in relation to the 1990 growth standards

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

The prevalence of mental retardation: a critical review of recent literature.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

HomozygosityMapper--an interactive approach to homozygosity mapping

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376419

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22541562

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.03.023

1 reference

11 August 2017

1 reference

11 August 2017

1 reference