(Q52143166)

http://europepmc.org/abstract/MED/27028366

23 April 2018

title

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. (English)

1 reference

http://europepmc.org/abstract/MED/27028366

23 April 2018

author

Luciana P Maximino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

Dagma Venturini Marques Abramides

2 June 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

Adriano Yacubian Fernandes

2 June 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Maria Rita Passos-Bueno

5

object named as

Maria Rita Passos-Bueno

1 reference

2 June 2020

Marilyse B L Fernandes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Gimol B Perosa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

30 March 2016

1 reference

http://europepmc.org/abstract/MED/27028366

23 April 2018

published in

American Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

1532-1537

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

[Developmental aspects of oral language in craniosynostosis].

2 June 2020

cites work

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1 reference

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Craniosynostoses: phenotypic/molecular correlations

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Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis.

21 January 2018

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Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly).

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Elements of morphology: standard terminology for the ear.

21 January 2018

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Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

21 January 2018

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Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

21 January 2018

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Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)

21 January 2018

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Clinical variability in patients with Apert's syndrome.

21 January 2018

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Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

21 January 2018

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Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

21 January 2018

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Raised intracranial pressure in Apert syndrome.

21 January 2018

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A reflectable case of obstructive sleep apnea in an infant with Crouzon syndrome.

21 January 2018

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Hydrocephalus in Apert syndrome: a retrospective review

21 January 2018

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De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

21 January 2018

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Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

21 January 2018

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Le premier siècle: one hundred years of progress in the treatment of Apert syndrome.

21 January 2018

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

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Prognosis for mental function in Apert's syndrome

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21 January 2018

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Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study.

21 January 2018

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Intellectual and academic functioning of school-age children with single-suture craniosynostosis

21 January 2018

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Consequences of cranial vault expansion surgery for craniosynostosis.

21 January 2018

1 reference

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Genetics of craniofacial development and malformation

21 January 2018

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Apert syndrome: factors involved in the cognitive development.

21 January 2018

1 reference

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Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27028366%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference