(Q37002460)

17 August 2017

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls (English)

1 reference

17 August 2017

1 reference

12

1 reference

17 August 2017

14

1 reference

17 August 2017

Stilianos Antonarakis

15

1 reference

17 August 2017

Roderic Guigó i Serra

6

Roderic Guigó

0 references

France Denoeud

France Denoeud

7

0 references

Valeria Capra

Valeria Capra

11

0 references

Francesca Ariani

Francesca Ariani

10

0 references

Alessandra Renieri

Alessandra Renieri

13

0 references

Alexandre Reymond

4

Alexandre Reymond

1 reference

17 August 2017

8

Jorg Drenkow

1 reference

17 August 2017

Periklis Makrythanasis

1

Periklis Makrythanasis

1 reference

17 August 2017

9

Colette Rossier

1 reference

17 August 2017

Philipp Kapranov

2

1 reference

17 August 2017

Lucia Bartoloni

3

1 reference

17 August 2017

Samuel Deutsch

5

1 reference

17 August 2017

1 September 2009

1 reference

17 August 2017

1 reference

17 August 2017

30

1 reference

17 August 2017

9

1 reference

17 August 2017

E866-79

1 reference

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Efficient targeted transcript discovery via array-based normalization of RACE libraries

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

The complete genome of an individual by massively parallel DNA sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

The diploid genome sequence of an individual human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Genome-wide DNA polymorphism analyses using VariScan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Mendelian disorders deserve more attention

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Genomic regions exhibiting positive selection identified from dense genotype data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

VariScan: Analysis of evolutionary patterns from large-scale DNA sequence polymorphism data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Rett syndrome: clinical review and genetic update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Rett syndrome: clinical and molecular update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Pattern of sequence variation across 213 environmental response genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

The human genome browser at UCSC

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Characterization of single-nucleotide polymorphisms in coding regions of human genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Multiple regions within 8q24 independently affect risk for prostate cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

Italian Rett database and biobank.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708316

4 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19562714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The incidence of Rett syndrome in France

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19562714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21073

1 reference

17 August 2017

1 reference

17 August 2017

1 reference