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Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

author

Tiong Y Tan

published in: Molecular syndromology

date of publication: 2016-10-29

main subject: Frontorhiny

Cites articles 81

Date

Title

Authors

2016-06-21

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Sulman Basit
2015-12-26

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Andrew Oliver Mungo Wilkie, Stephen Twigg, Lilian Bomme Ousager, Geske S Bak, Christina Fagerberg
2015-11-20

Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

Leslie A. Lyons, Chris R Helps, Barbara Gandolfi, Carolyn A Erdman
2015-10-01

Cellular and Molecular Mechanisms of Palatogenesis
2015-08-04

IRF6 is the mediator of TGFβ3 during regulation of the epithelial mesenchymal transition and palatal fusion

Chun-Ming Chen
2015-02-01

A dynamic Shh expression pattern, regulated by SHH and BMP signaling, coordinates fusion of primordia in the amniote face

Benedikt Hallgrímsson, Ralph S Marcucio
2015-04-11

A review of craniofacial disorders caused by spliceosomal defects

Stanislas Lyonnet, Christopher T Gordon, Jeanne Amiel, Maria Rita Passos-Bueno
2015-11-18

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
2014-08-01

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

Deborah A Nickerson, Lisa Maves
2014-09-16

The neural crest: a versatile organ system

Donald F Newgreen, Kerry Landman
2014-04-24

Mild nasal clefting may be predictive for ALX4 heterozygotes

Umut Altunoglu
2014-03-25

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation

Ariana Kariminejad
2013-11-27

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Andrew Oliver Mungo Wilkie, Stephen Twigg
2013-10-04

Facial dysostoses: Etiology, pathogenesis and management

Paul A Trainor
2013-01-17

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Andrew Oliver Mungo Wilkie, Stephen Twigg, Eleni Giannoulatou, Simon J McGowan, Anne Goriely, Roseli Maria Zechi-Ceide, Han G. Brunner
2013-08-15

Boston type craniosynostosis: report of a second mutation in MSX2.
2013-05-01

Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
2013-02-07

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation

Débora R Bertola, Caio Robledo D'Angioli Costa Quaio, Chong Ae Kim, Maria Rita Passos-Bueno
2012-08-13

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Jinoh Kim
2012-08-01

The MEKK1 SWIM domain is a novel substrate receptor for c-Jun ubiquitylation
2012-06-01

Development and evolution of the neural crest: an overview

Marianne Bronner
2012-12-01

Piecing together the vertebrate skull

Nicole Marthe Le Douarin
2012-10-11

Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia

Tokiharu Takahashi
2011-12-02

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
2011-11-03

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

Maurizio Elia
2010-08-15

Inactivation of Six2 in mouse identifies a novel genetic mechanism controlling development and growth of the cranial base

Karen Piper Hanley, Neil A. Hanley, Christopher M Ward, Raphaëlle Grifone
2010-05-06

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

Ferdinand von Eggeling, Bernd Wollnik
2010-08-01

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis

Antonio Richieri-Costa, Maria Leine Guion-Almeida
2009-11-15

ALX4 dysfunction disrupts craniofacial and epidermal development

Bernd Wollnik, Hulya Kayserili
2009-04-30

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Andrew Oliver Mungo Wilkie, Gudrun Nürnberg, Peter J Scambler, Peter Nürnberg, Raoul Hennekam, Dianne Gerrelli
2008-07

Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice

Scott Lozanoff
2008-04-01

Characterizing the oculoauriculofrontonasal syndrome

Michael T Gabbett, Stephen Robertson, Roland S. Broadbent

Article - wd:Q37460161

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