(Q38342694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements (English)

1 reference

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26 December 2019

3

1 reference

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26 December 2019

Francesca Ariani

5

1 reference

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26 December 2019

Joussef Hayek

9

1 reference

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26 December 2019

Alessandra Renieri

12

1 reference

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26 December 2019

Fiorella Gurrieri

13

1 reference

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26 December 2019

author name string

Ilaria Longo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Luisa Russo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Iolanda Ricci

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Chiara Pescucci

6

1 reference

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26 December 2019

Carmela Tiziana Giordano

7

1 reference

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26 December 2019

Roberto Canitano

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Michele Zappella

10

1 reference

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26 December 2019

Giovanni Neri

11

1 reference

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26 December 2019

publication date

1 August 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15069458%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

26 December 2019

published in

1 reference

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26 December 2019

volume

12

1 reference

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26 December 2019

issue

8

1 reference

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26 December 2019

page(s)

682-685

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201198

26 December 2019

exact match

0 references

cites work

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21 January 2018

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Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

21 January 2018

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Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

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Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.

21 January 2018

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The clinical recognition and differential diagnosis of Rett syndrome

21 January 2018

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Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant

21 January 2018

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The Rett girls with preserved speech

21 January 2018

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

21 January 2018

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Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

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Rett variants: a suggested model for inclusion criteria.

21 January 2018

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

21 January 2018

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A family with a grand-maternally derived interstitial duplication of proximal 15q.

21 January 2018

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Three probands with autistic disorder and isodicentric chromosome 15.

21 January 2018

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21 January 2018

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