(Q41920459)

English

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

scientific article published on 5 May 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

1 reference

based on heuristic

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author name string

P F Giampietro

1

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

D B Schowalter

2

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

S Merchant

3

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

L R Campbell

4

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

T Swink

5

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

B B Roa

6

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

publication date

5 May 2005

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Child's Nervous System

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Europe PubMed Central

PubMed publication ID

14 October 2017

22

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

320-324

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

https://scigraph.springernature.com/pub.10.1007/s00381-005-1155-z

0 references

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal breathing in the Rett syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Therapeutic effects of a ketogenic diet in Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical forms of Rett syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroanatomy of Rett syndrome: a volumetric imaging study

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ketogenic diet: 1997.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical trials and treatment prospects

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ketogenic diet in Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15875198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00381-005-1155-Z

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Dimensions Publication ID

0 references

release_exrfr3v3vzgtbnm7r62sem7nfu

1 reference

https://api.fatcat.wiki/v0/release/exrfr3v3vzgtbnm7r62sem7nfu

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

ResearchGate publication ID

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