(Q35447640)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Francesca Mari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Ilaria Meloni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Daniela Giachino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Joussef Hayek

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Alessandra Renieri

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

E Scala

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

R Caselli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

C Pescucci

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

I Longo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M Bruttini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M Zappella

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

1 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

42

1 reference

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8 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

103-107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Rett syndrome: the complex nature of a monogenic disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Preserved speech variant is allelic of classic Rett syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

The chemistry and enzymology of the type I signal peptidases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Rett syndrome: Criteria for inclusion and exclusion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

The clinical pattern of the Rett syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Atypical forms of Rett syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

"Forme fruste" of Rett syndrome--a case report

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

The Rett girls with preserved speech

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Study of MECP2 gene in Rett syndrome variants and autistic girls.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Rett syndrome and MeCP2: linking epigenetics and neuronal function

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Rett variants: a suggested model for inclusion criteria.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735977

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15689447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Conserved serine and histidine residues are critical for activity of the ER-type signal peptidase SipW of Bacillus subtilis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15689447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2004.026237

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689447%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

15689447

1 reference