(Q56330221)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204234%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype (English)

1 reference

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19 January 2020

1 reference

1 reference

1 reference

1

1 reference

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19 January 2020

Mona El Ruby

3

1 reference

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19 January 2020

Mona El Ruby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204234%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Maha M Eid

7

1 reference

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19 January 2020

Tarek H El-Badry

8

1 reference

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19 January 2020

Samia A Temtamy

11

1 reference

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19 January 2020

author name string

Laura Flores-Sarnat

2

1 reference

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19 January 2020

Jillian Parboosingh

5

1 reference

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19 January 2020

Peter Bridge

6

1 reference

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19 January 2020

Laila Effat

9

1 reference

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19 January 2020

Paolo Curatolo

10

1 reference

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19 January 2020

language of work or name

English

0 references

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204234%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

155A

1 reference

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19 January 2020

issue

1

1 reference

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19 January 2020

page(s)

207-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204234%20AND%20SRC:MED&resulttype=core&format=json

Muenke syndrome with osteochondroma.

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Craniofacial dyssynostosis: description of the first four Spanish cases and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

The origins, patterns and implications of human spontaneous mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Significant phenotypic variability of Muenke syndrome in identical twins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Hemimegalencephaly and normal intellectual development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Craniofacial dyssynostosis: a further case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Hypomelanosis of ITO. A study of 76 infantile cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Deletion of 15q11.2–15q13.1 in isolated human hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33777

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33777

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204234%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference