(Q34332048)

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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.

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Europe PubMed Central

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30 December 2019

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 (English)

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30 December 2019

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Francesca Ariani

1

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30 December 2019

2

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30 December 2019

6

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30 December 2019

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30 December 2019

Alessandra Renieri

10

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30 December 2019

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Chiara Pescucci

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30 December 2019

Ilaria Longo

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30 December 2019

Mirella Bruttini

5

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30 December 2019

Raffaele Rocchi

8

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30 December 2019

Michele Zappella

9

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30 December 2019

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1 August 2004

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30 December 2019

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30 December 2019

24

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30 December 2019

2

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30 December 2019

172-177

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30 December 2019

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

MECP2 mutations account for most cases of typical forms of Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Preserved speech variant is allelic of classic Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Rett variants: a suggested model for inclusion criteria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Real time quantitative PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Advances in quantitative PCR technology: 5′ nuclease assays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Rett syndrome-like hand-washing, developmental arrest and autistic symptoms in two Italian girls

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Preserved speech variants of the Rett syndrome: molecular and clinical analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20065

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20065

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15241799%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15241799%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

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