Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology. (Q37460161)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27920634%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

review article

1 reference

title

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology (English)

1 reference

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29 March 2020

1 reference

4

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29 March 2020

author name string

Peter G Farlie

series ordinal

1

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29 March 2020

Naomi L Baker

series ordinal

2

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29 March 2020

Patrick Yap

series ordinal

3

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29 March 2020

publication date

29 October 2016

1 reference

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29 March 2020

published in

Molecular syndromology

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29 March 2020

volume

7

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29 March 2020

issue

6

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29 March 2020

page(s)

312-321

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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

29 March 2020

cites work

1 reference

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

23 August 2017

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Cellular and Molecular Mechanisms of Palatogenesis

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

1 reference

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

23 August 2017

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Facial dysostoses: Etiology, pathogenesis and management

23 August 2017

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

23 August 2017

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ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

23 August 2017

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

23 August 2017

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Development and evolution of the neural crest: an overview

23 August 2017

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

23 August 2017

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

23 August 2017

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ALX4 dysfunction disrupts craniofacial and epidermal development

23 August 2017

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

23 August 2017

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

23 August 2017

1 reference

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Characterizing the oculoauriculofrontonasal syndrome.

23 August 2017

1 reference

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Signaling by bone morphogenetic proteins directs formation of an ectodermal signaling center that regulates craniofacial development.

23 August 2017

1 reference

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Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome

23 August 2017

1 reference

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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

23 August 2017

1 reference

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Bmp4 and Morphological Variation of Beaks in Darwin's Finches

23 August 2017

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Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

23 August 2017

1 reference

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SWIM, a novel Zn-chelating domain present in bacteria, archaea and eukaryotes

23 August 2017

1 reference

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Missense mutations of human homeoboxes: A review

23 August 2017

1 reference

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Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice

23 August 2017

1 reference

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

23 August 2017

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The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

23 August 2017

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

23 August 2017

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Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis

23 August 2017

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A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements

23 August 2017

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Pathogenesis of cleft palate in TGF-beta3 knockout mice

23 August 2017

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Acromelic frontonasal dysostosis

23 August 2017

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Polydactyly and ectopic ZPA formation in Alx-4 mutant mice

23 August 2017

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A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

23 August 2017

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

23 August 2017

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Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene

23 August 2017

1 reference

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

23 August 2017

1 reference

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Homeobox genes and connective tissue patterning

23 August 2017

1 reference

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A pedigree possible evidence for the metabolic interference hypothesis

23 August 2017

1 reference

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23 August 2017

Frontonasal dysplasia

1 reference

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Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)

23 August 2017

1 reference

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Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family

23 August 2017

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A review of craniofacial disorders caused by spliceosomal defects

23 August 2017

1 reference

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The neural crest: a versatile organ system.

23 August 2017

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Frontonasal malformation as a field defect and in syndromic associations

23 August 2017

1 reference

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Frontonasal dysplasia in 3H1 Br/Br mice

6 September 2017

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Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations

14 September 2017

1 reference

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Unique organization of the frontonasal ectodermal zone in birds and mammals.

14 September 2017

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

26 June 2018

1 reference

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A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

2 September 2018

1 reference

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Mild nasal clefting may be predictive for ALX4 heterozygotes.

2 September 2018

1 reference

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

2 September 2018

1 reference

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Boston type craniosynostosis: report of a second mutation in MSX2.

2 September 2018

1 reference

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Piecing together the vertebrate skull

2 September 2018

1 reference

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

2 September 2018

1 reference

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A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

2 September 2018

1 reference

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Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

2 September 2018

1 reference

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Cell autonomous requirement for Tgfbr2 in the disappearance of medial edge epithelium during palatal fusion

2 September 2018

1 reference

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Molecular shaping of the beak

2 September 2018

1 reference

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A zone of frontonasal ectoderm regulates patterning and growth in the face.

2 September 2018

1 reference

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Tissue origins and interactions in the mammalian skull vault

2 September 2018

1 reference

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Expression patterns of group-I aristaless-related genes during craniofacial and limb development.

2 September 2018

1 reference

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Eph receptors and ephrins restrict cell intermingling and communication.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5131330

Interactions of Eph-related receptors and ligands confer rostrocaudal pattern to trunk neural crest migration.

2 September 2018

1 reference

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Neural crest formation in the head of the mouse embryo as observed using a new histological technique

2 September 2018

1 reference

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Craniofrontonasal dysplasia: clinical and genetic analysis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5131330

Craniofrontonasal dysplasia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5131330

Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

2 September 2018

1 reference

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Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5131330

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

3 December 2018

1 reference

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Craniofrontonasal dysplasia: more severe expression in the mother than in her son

3 December 2018

1 reference

12 December 2020

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report

1 reference

12 December 2020

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

1 reference

12 December 2020

Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion

1 reference

12 December 2020

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

1 reference

12 December 2020

Acrofrontofacionasal dysostosis: Report of the third Brazilian family

1 reference

12 December 2020

FGF signals from the nasal pit are necessary for normal facial morphogenesis

1 reference

12 December 2020

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies

1 reference

12 December 2020

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

1 reference

12 December 2020

Inherited homeotic midfacial malformations in Burmese cats

1 reference

12 December 2020

Identifiers

DOI

10.1159/000450533

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27920634%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27920634%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference