| scholarly article | Q13442814 |
| P356 | DOI | 10.1007/S13353-017-0423-4 |
| P698 | PubMed publication ID | 29392564 |
| P50 | author | Anna Kutkowska-Kazmierczak | Q59661577 |
| Monika Gos | Q88431810 | ||
| Ewa Obersztyn | Q116154537 | ||
| P2860 | cites work | Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice | Q24338242 |
| Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis | Q24531477 | ||
| Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis | Q28073737 | ||
| New insights into craniofacial malformations | Q28088384 | ||
| Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome | Q28138231 | ||
| A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis | Q28249477 | ||
| Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome | Q28279180 | ||
| A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 | Q28943389 | ||
| IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome | Q29147558 | ||
| Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis | Q30540667 | ||
| Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families | Q33676026 | ||
| Management of craniosynostoses | Q33930803 | ||
| Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. | Q33947191 | ||
| Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms | Q34041534 | ||
| Craniosynostosis and related limb anomalies | Q34201096 | ||
| Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome | Q34308670 | ||
| A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. | Q34387671 | ||
| Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations | Q34768100 | ||
| Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene | Q34978768 | ||
| Genetic study of nonsyndromic coronal craniosynostosis | Q56385175 | ||
| Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain | Q35448848 | ||
| Progressive postnatal craniosynostosis and increased intracranial pressure | Q35732796 | ||
| Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. | Q35809894 | ||
| Association between maternal age and birth defects of unknown etiology: United States, 1997-2007. | Q35939919 | ||
| Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. | Q36504775 | ||
| Prognosis for mental function in Apert's syndrome | Q36805126 | ||
| Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis | Q36824880 | ||
| Genetic analysis of non-syndromic craniosynostosis | Q36890936 | ||
| A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. | Q37005200 | ||
| Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis | Q37218536 | ||
| Craniosynostosis involving the squamous temporal sutures: a rare and possibly underreported etiology for cranial vault asymmetry | Q37790572 | ||
| The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes. | Q38245594 | ||
| Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype | Q39686045 | ||
| De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. | Q41614223 | ||
| Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. | Q41935741 | ||
| The Saethre-Chotzen syndrome | Q41937482 | ||
| Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods | Q44208349 | ||
| A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome | Q45137467 | ||
| Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH. | Q47745464 | ||
| Clinical genetics of craniosynostosis | Q47796796 | ||
| Eight patients with Williams syndrome and craniosynostosis | Q48163483 | ||
| Crouzon with acanthosis nigricans. Further delineation of the syndrome | Q50455183 | ||
| Squamosal Suture Craniosynostosis Due to Hyperthyroidism Caused by an Activating Thyrotropin Receptor Mutation (T632I). | Q50580764 | ||
| Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes. | Q50922869 | ||
| Cervical spine in the Apert syndrome. | Q51687011 | ||
| Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). | Q51914959 | ||
| Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. | Q51935999 | ||
| A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. | Q51961876 | ||
| Genetic analysis of patients with the Saethre-Chotzen phenotype. | Q52117348 | ||
| Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. | Q52143166 | ||
| A secondary craniosynostosis associated with juvenile hyperthyroidism. | Q53110539 | ||
| Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. | Q53459625 | ||
| Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. | Q53538418 | ||
| Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. | Q54419525 | ||
| Clinical dividends from the molecular genetic diagnosis of craniosynostosis. | Q55044177 | ||
| Craniosynostosis | Q56262853 | ||
| Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit | Q56262873 | ||
| Epidemiology and genetics of craniosynostosis | Q56263099 | ||
| A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element | Q56265298 | ||
| KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis | Q56321587 | ||
| High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g | Q56332951 | ||
| A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail | Q56342100 | ||
| Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene | Q56342174 | ||
| Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication | Q56378238 | ||
| Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery | Q56378290 | ||
| Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture | Q56384329 | ||
| Cutaneous manifestations of Apert syndrome | Q56384385 | ||
| P433 | issue | 2 | |
| P921 | main subject | craniosynostosis | Q378183 |
| P304 | page(s) | 133-147 | |
| P577 | publication date | 2018-02-01 | |
| P1433 | published in | Journal of Applied Genetics | Q15767059 |
| P1476 | title | Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling | |
| P478 | volume | 59 |
| Q56261658 | Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation |
| Q61809349 | Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis |
| Q93043682 | Structural Genome Variations Related to Craniosynostosis |
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