| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Andrew Oliver Mungo Wilkie | Q21165202 |
| Stephen Twigg | Q42754543 | ||
| P2860 | cites work | Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. | Q50615596 |
| Cell fate specification during calvarial bone and suture development. | Q51975311 | ||
| Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. | Q52125476 | ||
| Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. | Q52534379 | ||
| Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans. | Q52957927 | ||
| Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. | Q53290791 | ||
| Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population. | Q53834105 | ||
| Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). | Q55691615 | ||
| 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 | Q56263091 | ||
| RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis | Q56333589 | ||
| Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head | Q77679035 | ||
| Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance | Q80360595 | ||
| TGFβ3 regulates periderm removal through ΔNp63 in the developing palate | Q85892508 | ||
| Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 | Q24299499 | ||
| Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus | Q24300588 | ||
| Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting | Q24307839 | ||
| SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid | Q24310673 | ||
| Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome | Q24311679 | ||
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects | Q24315833 | ||
| Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 | Q24323194 | ||
| Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes | Q24600400 | ||
| A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 | Q24606773 | ||
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly | Q24633650 | ||
| Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip | Q24650690 | ||
| TFAP2A mutations result in branchio-oculo-facial syndrome | Q24655671 | ||
| Impaired FGF signaling contributes to cleft lip and palate | Q24683257 | ||
| Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations | Q28247788 | ||
| Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome | Q28265479 | ||
| Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group | Q28273395 | ||
| Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death | Q28506088 | ||
| Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development | Q28509785 | ||
| A twist code determines the onset of osteoblast differentiation | Q28510533 | ||
| Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice | Q28591495 | ||
| Development of the upper lip: morphogenetic and molecular mechanisms | Q28756916 | ||
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci | Q28943468 | ||
| Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis | Q29144905 | ||
| A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome | Q30416401 | ||
| Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis | Q30540667 | ||
| Fine tuning of craniofacial morphology by distant-acting enhancers | Q30576356 | ||
| Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis | Q30650353 | ||
| Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium | Q30859104 | ||
| A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence | Q31155280 | ||
| Acromelic frontonasal dysostosis | Q33586618 | ||
| Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders | Q33609691 | ||
| Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum | Q33778488 | ||
| Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts | Q33895010 | ||
| Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome | Q33942299 | ||
| Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate | Q34089102 | ||
| Opposite effects on facial morphology due to gene dosage sensitivity | Q34104315 | ||
| Periderm prevents pathological epithelial adhesions during embryogenesis. | Q34117498 | ||
| Genetics of craniofacial development and malformation | Q34271559 | ||
| Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription | Q34307296 | ||
| Inappropriate p53 activation during development induces features of CHARGE syndrome | Q34315506 | ||
| Identification of a face enhancer reveals direct regulation of LIM homeobox 8 (Lhx8) by wingless-int (WNT)/β-catenin signaling. | Q34430914 | ||
| Defining the role of common variation in the genomic and biological architecture of adult human height | Q34441746 | ||
| Let's face it--complex traits are just not that simple | Q34464562 | ||
| Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation | Q34467496 | ||
| Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome | Q34657837 | ||
| A review of craniofacial disorders caused by spliceosomal defects | Q38417433 | ||
| Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions | Q38898263 | ||
| Toward DNA-based facial composites: preliminary results and validation | Q39133746 | ||
| Long-range enhancers regulating Myc expression are required for normal facial morphogenesis | Q39186926 | ||
| Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen | Q39198430 | ||
| Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway | Q39214917 | ||
| Diagnostically relevant facial gestalt information from ordinary photos | Q41014879 | ||
| Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3. | Q41919357 | ||
| Strong association of variants around FOXE1 and orofacial clefting. | Q42644863 | ||
| Chromosomal deletion complexes in mice by radiation of embryonic stem cells | Q42814312 | ||
| Tissue origins and interactions in the mammalian skull vault | Q43849664 | ||
| Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population | Q44413379 | ||
| Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome | Q45801424 | ||
| Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice | Q47622053 | ||
| Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. | Q48894667 | ||
| Cell lineage in mammalian craniofacial mesenchyme | Q49100509 | ||
| Pax3 and Pax7 play essential safeguard functions against environmental stress-induced birth defects. | Q50595155 | ||
| Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome | Q34657870 | ||
| Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. | Q34959002 | ||
| Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. | Q34978484 | ||
| A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. | Q34995753 | ||
| Modeling 3D facial shape from DNA | Q35126094 | ||
| Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate | Q35208819 | ||
| Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. | Q35214686 | ||
| Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci | Q35221422 | ||
| The suture provides a niche for mesenchymal stem cells of craniofacial bones | Q35235541 | ||
| Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia | Q35266382 | ||
| Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome | Q35361558 | ||
| Classification and visualization based on derived image features: application to genetic syndromes | Q35431730 | ||
| A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes | Q35579303 | ||
| Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome | Q35671532 | ||
| Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1. | Q35804668 | ||
| Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. | Q36060880 | ||
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders | Q36147983 | ||
| 21st century neontology and the comparative development of the vertebrate skull | Q36442060 | ||
| Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice | Q36648628 | ||
| Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis | Q36824880 | ||
| An endothelin-1 switch specifies maxillomandibular identity | Q36999856 | ||
| Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study | Q37000196 | ||
| Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases | Q37045153 | ||
| Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation | Q37067134 | ||
| The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein | Q37187752 | ||
| Cdc45 is a critical effector of myc-dependent DNA replication stress. | Q37292428 | ||
| Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations. | Q37316941 | ||
| Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears | Q37369042 | ||
| Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development | Q37441103 | ||
| New directions in craniofacial morphogenesis | Q37639527 | ||
| Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis | Q37679924 | ||
| An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. | Q37708384 | ||
| Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development. | Q37776076 | ||
| P433 | issue | R1 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | R50-9 | |
| P577 | publication date | 2015-10-15 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | New insights into craniofacial malformations | |
| P478 | volume | 24 |
| Q91853918 | A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis |
| Q36919863 | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| Q41096052 | A novel ciliopathic skull defect arising from excess neural crest |
| Q89857173 | Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome |
| Q38622294 | Anti-EDAR Agonist Antibody Therapy Resolves Palate Defects in Pax9(-/-) Mice |
| Q38794125 | Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies |
| Q52315155 | BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. |
| Q47899257 | Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura |
| Q92108093 | Chemical-induced craniofacial anomalies caused by disruption of neural crest cell development in a zebrafish model |
| Q56261650 | Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure |
| Q47552779 | Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling |
| Q37022651 | Dissection of the complex genetic basis of craniofacial anomalies using haploid genetics and interspecies hybrids in Nasonia wasps |
| Q36222017 | Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth |
| Q39067864 | Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge |
| Q33884323 | Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development. |
| Q52795305 | Genetic advances in craniosynostosis. |
| Q48268665 | Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis. |
| Q49834334 | Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans. |
| Q61053714 | Insights into retinoic acid deficiency and the induction of craniofacial malformations and microcephaly in fetal alcohol spectrum disorder |
| Q92560096 | KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies |
| Q28596914 | Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain |
| Q33710573 | Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans |
| Q88869535 | Neurocristopathies: New insights 150 years after the neural crest discovery |
| Q60300469 | Prickle1 regulates differentiation of frontal bone osteoblasts |
| Q28975781 | Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor |
| Q30355432 | Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear. |
| Q90697104 | Specification and formation of the neural crest: Perspectives on lineage segregation |
| Q93043682 | Structural Genome Variations Related to Craniosynostosis |
| Q38864037 | Systems biology of facial development: contributions of ectoderm and mesenchyme |
| Q36187381 | The Morphogenesis of Cranial Sutures in Zebrafish |
| Q104739498 | The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders |
| Q47194658 | Update on 13 Syndromes Affecting Craniofacial and Dental Structures |
| Q104557165 | Using Xenopus to analyze neurocristopathies like Kabuki syndrome |
| Q30369032 | Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation |
| Q92990652 | Vitamin D Receptor Signaling Regulates Craniofacial Cartilage Development in Zebrafish |
| Q41919376 | Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis |
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