Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q34271559)
Watch
English
Genetics of craniofacial development and malformation
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Genetics of craniofacial development and malformation
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
author
Andrew Oliver Mungo Wilkie
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
author name string
Morriss-Kay GM
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
language of work or name
English
1 reference
based on heuristic
inferred from title
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
published in
Nature Reviews Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
volume
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
page(s)
458-468
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
issue
6
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
exact match
https://scigraph.springernature.com/pub.10.1038/35076601
0 references
cites work
Neural Crest and the Origin of Vertebrates: A New Head
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Derivation of the mammalian skull vault
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neural crest patterning and the evolution of the jaw
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The origin and early diversification of tetrapods
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chordate evolution and the origin of craniates: an old brain in a new head
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Origin of anterior patterning. How old is our head?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Vertebrate innovations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Conservation and elaboration of Hox gene regulation during evolution of the vertebrate head.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epithelial-mesenchymal interactions in the outgrowth of limb buds and facial primordia in chick embryos
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
From head to toe: conservation of molecular signals regulating limb and craniofacial morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chimeras and mosaics in mouse mutant analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in holoprosencephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TGFbeta signaling in growth control, cancer, and heritable disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cholesterol modification of hedgehog signaling proteins in animal development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Teratogen-mediated inhibition of target tissue response to Shh signaling.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Smad2 role in mesoderm formation, left-right patterning and craniofacial development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mouse Otx2 functions in the formation and patterning of rostral head.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Axis development and early asymmetry in mammals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Current concepts in the understanding and management of hemifacial microsomia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pathogenesis of the first and second branchial arch syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The many faces and factors of orofacial clefts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ryk-deficient mice exhibit craniofacial defects associated with perturbed Eph receptor crosstalk
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The 22q11 deletion syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The origins, patterns and implications of human spontaneous mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cranial sutures as intramembranous bone growth sites
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Embryonic folate metabolism and mouse neural tube defects.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mammalian Dlx homeobox gene control of craniofacial and inner ear morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A chromosomal deletion map of human malformations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
What's in a face?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mouse models for neural tube closure defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Signalling interactions during facial development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transforming growth factor-beta 3 is required for secondary palate fusion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F35076601
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/35076601
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
Dimensions Publication ID
1040585763
0 references
PubMed ID
11389462
1 reference
stated in
Europe PubMed Central
PubMed ID
11389462
retrieved
1 August 2017
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit