(Q77769287)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

0 references

Cemaliye Boylu Akyerli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

Meral Topçu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Ayça Sayi

3

1 reference

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8 December 2019

Gökçe A Törüner

4

1 reference

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8 December 2019

Süha R Koçoğlu

5

1 reference

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8 December 2019

Mine Cimbiş

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Tayfun Ozçelik

7

1 reference

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8 December 2019

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

10

1 reference

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8 December 2019

issue

1

1 reference

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8 December 2019

page(s)

77-81

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200745

8 December 2019

exact match

0 references

cites work

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

The clinical recognition and differential diagnosis of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

The Rett syndrome in males.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

A boy with the Rett syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

The Rett syndrome in males

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

MeCP2 mutations in children with and without the phenotype of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

A dispermic chimerism in a 2-year-old Caucasian boy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Somatic mosaicism in hemophilia A: a fairly common event.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Guidelines for reporting clinical features in cases with MECP2 mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200745

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200745

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11896459%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference