Andrew O M Wilkie

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
    Sahan V Rannan-Eliya
    NDCLS, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Headington, Oxford, UK
    Hum Genet 115:200-7. 2004
  2. ncbi Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, NDCLS, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Cytokine Growth Factor Rev 16:187-203. 2005
  3. pmc Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
    Stephen R F Twigg
    Clinical Genetics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Hum Mol Genet 22:1654-62. 2013
  4. ncbi An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
    Shih hsin Kan
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Med Genet A 121:69-74. 2003
  5. ncbi Clinical dividends from the molecular genetic diagnosis of craniosynostosis
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Med Genet A 143:1941-9. 2007
  6. pmc Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:6051-6. 2005
  7. pmc Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Hum Mutat 32:930-8. 2011
  8. pmc Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK
    Pediatrics 126:e391-400. 2010
  9. pmc 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
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Med Genet A 152:2067-73. 2010
  10. pmc Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype
    Lampros A Mavrogiannis
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Eur J Hum Genet 14:151-8. 2006

Detail Information

Publications62

  1. ncbi Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
    Sahan V Rannan-Eliya
    NDCLS, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Headington, Oxford, UK
    Hum Genet 115:200-7. 2004
    ..We conclude that similar biological processes are likely to shape the occurrence of this c.749C>G mutation as for other mutations of FGFR3 as well as FGFR2...
  2. ncbi Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, NDCLS, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Cytokine Growth Factor Rev 16:187-203. 2005
    ..These clinical observations illustrate the pleiotropism of FGFR action and fuel ongoing efforts to understand the rich biology and pathophysiology of the FGF signalling system...
  3. pmc Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
    Stephen R F Twigg
    Clinical Genetics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Hum Mol Genet 22:1654-62. 2013
    ....
  4. ncbi An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
    Shih hsin Kan
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Med Genet A 121:69-74. 2003
    ..1998: Am. J. Hum. Genet. 63: 992-1000] in which different deletions of HOXD13 were reported. These findings together lend support to a distinct phenotype resulting from haploinsufficiency of HOXD13...
  5. ncbi Clinical dividends from the molecular genetic diagnosis of craniosynostosis
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Med Genet A 143:1941-9. 2007
    ..In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations...
  6. pmc Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:6051-6. 2005
    ..Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms...
  7. pmc Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Hum Mutat 32:930-8. 2011
    ....
  8. pmc Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK
    Pediatrics 126:e391-400. 2010
    ..We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing...
  9. pmc 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
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Med Genet A 152:2067-73. 2010
    ..3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes...
  10. pmc Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype
    Lampros A Mavrogiannis
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Eur J Hum Genet 14:151-8. 2006
    ..Mutation screening has a high pickup rate in PFM, especially in familial cases, but is not indicated in CRS...
  11. pmc A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
    Dominic Furniss
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 17:2417-23. 2008
    ..Depending on the dispersal of the founding mutation, it may play a wider role in the aetiology of this disorder...
  12. pmc Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Mech Dev 125:517-26. 2008
    ..The large deletion interval may explain the wide range of abnormalities in Dbf/(+) mutants. However, we did not detect anologous deletions in cases of Laurin-Sandrow syndrome, a human disorder that shows phenotypic similarities to Dbf...
  13. pmc The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself
    Sally Jay
    Department of Plastic Surgery, John Radcliffe Hospital, Oxford, UK
    Am J Med Genet A 161:1158-63. 2013
    ..Independent genetic origins, but phenotypic similarities in the two families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation...
  14. pmc Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
    Charlotte L Bendon
    Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK
    BMC Med Genet 13:104. 2012
    ..1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome...
  15. pmc Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
    Stephen R F Twigg
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Nat Genet 45:308-13. 2013
    ..This work identifies ERF as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes...
  16. ncbi A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Hum Genet 122:191-9. 2007
    ..2 breakpoint associated with ectrodactyly, and the mapping of the ectrodactylous Dominant hemimelia mouse mutation to a region of homologous synteny, suggests that 2q14.2 represents a novel locus for SHFLD...
  17. ncbi Clinical dividends from the molecular genetic diagnosis of craniosynostosis
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Med Genet A 140:2631-9. 2006
    ..In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations...
  18. doi Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
    Elena G Bochukova
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    Hum Mutat 30:204-11. 2009
    ....
  19. pmc Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
    Vikram P Sharma
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Nat Genet 45:304-7. 2013
    ..Hence, the dosage of TCF12-TWIST1 heterodimers is critical for normal coronal suture development...
  20. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006
    ..These results highlight the importance of considering possible origins of mutation in the counseling of families with CFNS and provide a generally applicable approach to the combined analysis of mosaic and germline mutations...
  21. pmc Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies
    Gillian M Morriss-Kay
    Department of Human Anatomy and Genetics, University of Oxford, UK
    J Anat 207:637-53. 2005
    ....
  22. ncbi Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link
    Ruth M S Hansen
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK
    J Pathol 207:27-31. 2005
    ..This suggests that gain-of-function FGFR2 mutations are not commonly encountered in tumourigenesis and specifically excludes a major contribution in testicular tumours...
  23. pmc Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
    Elena G Bochukova
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    J Med Genet 47:803-8. 2010
    ..Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼ 21% of cases, but it is likely that further causative mutations remain to be discovered...
  24. ncbi Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3
    Dominic Furniss
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Med Genet A 143:3150-60. 2007
    ..c) 2007 Wiley-Liss, Inc...
  25. doi Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Dev Dyn 238:331-42. 2009
    ..We conclude that although both cranial and long bone development is variably affected by the murine Fgfr3(P244R) mutation, coronal craniosynostosis is not reliably reproduced...
  26. pmc "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Psychiatry 170:599-608. 2013
    ..The authors outline hypotheses to test this model. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public health implications...
  27. pmc RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
    Dagan Jenkins
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 80:1162-70. 2007
    ....
  28. pmc Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
    Dagan Jenkins
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Hum Mutat 32:E2069-78. 2011
    ..These observations refine the phenotypic spectrum of Carpenter syndrome and offer new insights into molecular pathogenesis...
  29. ncbi Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    Anne Goriely
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK
    Science 301:643-6. 2003
    ..We propose that these FGFR2 mutations, although harmful to embryonic development, are paradoxically enriched because they confer a selective advantage to the spermatogonial cells in which they arise...
  30. pmc Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
    Stephen R F Twigg
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Hum Genet 91:897-905. 2012
    ..We did not observe any subject with biallelic loss-of function mutations, suggesting that some residual MEGF8 function might be necessary for survival and might influence the phenotypes observed...
  31. pmc Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Am J Hum Genet 90:175-200. 2012
    ....
  32. pmc Craniosynostosis
    David Johnson
    Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK
    Eur J Hum Genet 19:369-76. 2011
    ..This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management...
  33. pmc Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK
    Am J Hum Genet 84:698-705. 2009
    ..We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny...
  34. pmc Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
    Eleni Giannoulatou
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 110:20152-7. 2013
    ..We developed a statistical model to show how both intrinsic mutation rate and selfish selection contribute to the mutational burden borne by the paternal germline. ..
  35. pmc Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men
    Jasmine Lim
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    PLoS ONE 7:e42382. 2012
    ....
  36. pmc A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
    Aimée L Fenwick
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    BMC Med Genet 12:122. 2011
    ..Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event...
  37. pmc Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation
    Ileana Antonopoulou
    Department of Human Anatomy and Genetics, University of Oxford, Oxford, UK
    J Anat 204:487-99. 2004
    ....
  38. pmc Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 101:8652-7. 2004
    ..This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis...
  39. pmc Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
    David Johnson
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, and Department of Plastic and Reconstructive Surgery, Radcliffe Infirmary, Oxford, United Kingdom
    Am J Hum Genet 72:984-97. 2003
    ..Molecular modeling of the Ile314Leu mutation indicates that this mixed gain and loss of affinity may be accounted for by the relative positions of methyl groups in the amino acid side chain and target base...
  40. doi Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features
    Karen A Eley
    Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
    Plast Reconstr Surg 130:690e-697e. 2012
    ..Raised intracranial pressure, however, would necessitate intervention. The authors documented the incidence of raised intracranial pressure in children with mild features and/or parental reluctance to proceed directly to surgery...
  41. pmc The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
    Sebastian Kohler
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke s Hospital, Cambridge CB2 2QQ, UK, Universite Paul Sabatier, Faculte de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada
    Nucleic Acids Res 42:D966-74. 2014
    ..We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online. ..
  42. ncbi FGFs, their receptors, and human limb malformations: clinical and molecular correlations
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Med Genet 112:266-78. 2002
    ..A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations...
  43. pmc Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes
    Simon Brackenridge
    Nuffield Department of Medicine, John Radcliffe Hospital, Oxford University, Oxford OX3 9DS, UK
    EMBO J 22:1620-31. 2003
    ..Thus the GA 5' splice site represents an extension of the adjacent conventional 5' splice site, the first natural example of such a composite 5' splice site...
  44. pmc Pitfalls in the phylogenomic evaluation of human disease-causing mutations
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK
    J Biol 8:26. 2009
    ..But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes...
  45. pmc Why study human limb malformations?
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    J Anat 202:27-35. 2003
    ....
  46. ncbi Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  47. ncbi Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2
    Andrew O M Wilkie
    Am J Med Genet 111:105. 2002
  48. doi Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis
    Damian D Marucci
    Oxford Craniofacial Unit and the Department of Plastic and Reconstructive Surgery, West Wing, John Radcliffe Hospital, Oxford, United Kingdom
    Plast Reconstr Surg 122:217-24. 2008
    ..The authors assessed the significance of the development of a progressive vertex bulge following strip craniectomy as a predictor of raised intracranial pressure or multiple suture synostosis...
  49. ncbi Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics
    Mohammad K Hajihosseini
    School of Biosciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    Development 131:325-35. 2004
    ....
  50. pmc Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
    Shih hsin Kan
    Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Oxford, United Kingdom
    Am J Hum Genet 70:472-86. 2002
    ..We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot...
  51. ncbi Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis
    Amy E Merrill
    Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089 0176, USA
    Hum Mol Genet 15:1319-28. 2006
    ..This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis...
  52. ncbi A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
    Thomy J L de Ravel
    Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium
    Eur J Hum Genet 13:503-5. 2005
    ..Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations...
  53. ncbi Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2
    Sixto Garcia-Minaur
    South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK
    Eur J Hum Genet 11:892-5. 2003
    ..Our observations highlight the role of MSX2 in clavicular development and the importance of radiological examination of the clavicles in subjects with PFM...
  54. ncbi Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
    Pradeep C Vasudevan
    Department of Clinical Genetics, Sheffield Children s Hospital, Sheffield, South Yorkshire, UK
    Eur J Hum Genet 14:884-7. 2006
    ..Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm...
  55. ncbi Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Eur J Hum Genet 14:549-54. 2006
    ..The description of somatic mutations and germline mosaicism in FLNA has implications for clinical and molecular diagnosis, phenotypic expression and genetic counseling of families with these disorders...
  56. ncbi FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis
    Gregory P L Thomas
    Oxford Craniofacial Unit, Radcliffe Infirmary, Oxford, United Kingdom
    J Craniofac Surg 16:347-52; discussion 353-4. 2005
    ..3%) without the mutation. This highlights the need for genetic analysis and long-term clinical follow-up in apparently "isolated" coronal synostosis...
  57. ncbi Cancer drugs to treat birth defects
    Andrew O M Wilkie
    Nat Genet 39:1057-9. 2007
  58. ncbi Functional analysis of natural mutations in two TWIST protein motifs
    Noriko Funato
    Human Gene Sciences Center, Tokyo Medical and Dental University, Tokyo, Japan
    Hum Mutat 25:550-6. 2005
    ..This analysis further dissects the structure-function relationships of TWIST and corroborates with phenotypic observations of disease expressivity...
  59. ncbi Monozygotic twins discordant for frontonasal malformation
    Shehla N Mohammed
    Department of Clinical Genetics, Guy s Hospital, London, United Kingdom
    Am J Med Genet A 130:384-8. 2004
    ..Monozygosity of all five twin pairs was confirmed, and the clinical features were reviewed. We discuss the mechanistic relationship between FNM and the twinning process and the genetic implications of this association...
  60. ncbi Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, Sala 200 CEP 05508 900 São Paulo, SP, Brazil
    Cleft Palate Craniofac J 43:148-51. 2006
    ..Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes...
  61. ncbi Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 36:411-6. 2004
    ....
  62. ncbi Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
    ..This observation suggests that locus heterogeneity may exist for this disorder...