Craniofacial characteristics of fragile X syndrome in mouse and man. (Q37043811)

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19 February 2020

title

Craniofacial characteristics of fragile X syndrome in mouse and man (English)

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19 February 2020

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6

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Frank Kooy

9

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19 February 2020

author name string

Inge Heulens

1

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19 February 2020

Michael Suttie

2

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Andrei Postnov

3

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19 February 2020

Nora De Clerck

4

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Concetta S Perrotta

5

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19 February 2020

Francesca Faravelli

7

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Francesca Forzano

8

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Peter Hammond

10

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publication date

5 December 2012

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European Journal of Human Genetics

19 February 2020

published in

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volume

21

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issue

8

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page(s)

816-823

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Atypical face shape and genomic structural variants in epilepsy

19 February 2020

cites work

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Anatomical phenotyping in a mouse model of fragile X syndrome with magnetic resonance imaging

29 September 2017

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

29 September 2017

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Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome.

29 September 2017

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Syndrome identification based on 2D analysis software

29 September 2017

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Discriminating power of localized three-dimensional facial morphology

29 September 2017

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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

29 September 2017

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Understanding fragile X syndrome: insights from animal models

29 September 2017

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Of mice and the fragile X syndrome.

29 September 2017

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Hox genes, neural crest cells and branchial arch patterning

29 September 2017

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Decreased cerebellar posterior vermis size in fragile X syndrome: correlation with neurocognitive performance

29 September 2017

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Preliminary communication: neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome

27 June 2018

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Photoanthropometric analysis of individuals with the fragile X syndrome

27 June 2018

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Anthropometry in Martin-Bell syndrome

27 June 2018

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Neuroanatomy of fragile X syndrome: the posterior fossa

27 June 2018

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Another cause of vaccine encephalopathy: a case of Angelman syndrome.

27 June 2018

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FMR1/FXR1 and the miRNA pathway are required for eye and neural crest development.

4 September 2018

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Morphometric analysis of face in dysmorphology.

4 September 2018

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Reproducibility of soft tissue landmarks on three-dimensional facial scans.

4 September 2018

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4 September 2018

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Estimating average growth trajectories in shape-space using kernel smoothing.

4 September 2018

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Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective.

4 September 2018

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4 September 2018

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4 September 2018

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Effect of the fragile X anomaly on body proportions estimated by pedigree analysis

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12 December 2020

The use of 3D face shape modelling in dysmorphology

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12 December 2020

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

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12 December 2020

The face signature of fibrodysplasia ossificans progressiva

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.265

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23211703%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

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19 February 2020

PubMed publication ID

23211703

1 reference

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