A O Wilkie

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. 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
  2. ncbi request reprint 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
  3. ncbi request reprint Genetics of craniofacial development and malformation
    A O Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Oxford OX3 9DS, UK
    Nat Rev Genet 2:458-68. 2001
  4. ncbi request reprint 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
    D Johnson
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Mech Dev 91:341-5. 2000
  5. ncbi request reprint Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 9:165-72. 1995
  6. ncbi request reprint Craniosynostosis and related limb anomalies
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Novartis Found Symp 232:122-33; discussion 133-43. 2001
  7. ncbi request reprint A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals
    N Elanko
    Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK
    Hum Mutat 18:535-41. 2001
  8. ncbi request reprint A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
    D Johnson
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Eur J Hum Genet 8:571-7. 2000
  9. ncbi request reprint Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 24:387-90. 2000
  10. ncbi request reprint Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
    L A Mavrogiannis
    Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
    Nat Genet 27:17-8. 2001

Collaborators

Detail Information

Publications63

  1. 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
    ....
  2. ncbi request reprint 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...
  3. ncbi request reprint Genetics of craniofacial development and malformation
    A O Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Oxford OX3 9DS, UK
    Nat Rev Genet 2:458-68. 2001
    ..Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault...
  4. ncbi request reprint 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
    D Johnson
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Mech Dev 91:341-5. 2000
    ..Twist expression domains show some overlap with those of Fgfr2, which is expressed in the most immature (proliferating) osteogenic tissue...
  5. ncbi request reprint Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 9:165-72. 1995
    ..The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis...
  6. ncbi request reprint Craniosynostosis and related limb anomalies
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Novartis Found Symp 232:122-33; discussion 133-43. 2001
    ..DNA binding studies show that the craniosynostosis and parietal foramina arise from gain and loss of function, respectively...
  7. ncbi request reprint A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals
    N Elanko
    Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK
    Hum Mutat 18:535-41. 2001
    ..The glycine stretch may serve as a flexible linker between the functional domains of the TWIST protein, and as such may be subject to reduced evolutionary constraint...
  8. ncbi request reprint A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
    D Johnson
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Eur J Hum Genet 8:571-7. 2000
    ..To our knowledge, this is the first report of an interaction between a weakly pathogenic mutation and intrauterine constraint, leading to craniosynostosis...
  9. ncbi request reprint Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 24:387-90. 2000
    ....
  10. ncbi request reprint Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
    L A Mavrogiannis
    Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
    Nat Genet 27:17-8. 2001
    ..Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS...
  11. ncbi request reprint Exclusive paternal origin of new mutations in Apert syndrome
    D M Moloney
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 13:48-53. 1996
    ..This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder...
  12. pmc Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1
    S P Robertson
    Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Am J Hum Genet 69:223-7. 2001
    ..8-2.1 Mb. We also demonstrate that female carriers of this disorder exhibit skewed inactivation that segregates with the high-risk haplotype and may be inversely related to the severity with which they manifest features of the disorder...
  13. ncbi request reprint Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
    D M Moloney
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Lancet 349:1059-62. 1997
    ..We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation...
  14. ncbi request reprint Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2
    S Iseki
    Department of Human Anatomy, Oxford, UK
    Development 124:3375-84. 1997
    ....
  15. ncbi request reprint Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis
    S R Twigg
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Genet 105:320-6. 1999
    ..Two single nucleotide polymorphisms encoding synonymous amino acids were identified in exon 2. The SNAI1P pseudogene was isolated, sequenced and mapped to chromosome band 2q34...
  16. ncbi request reprint Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2
    M Oldridge
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 6:137-43. 1997
    ..The description of independent, complex nucleotide substitutions involving identical nucleotides is unprecedented, and we speculate that this may result from functional selection of FGFR mutations in sperm...
  17. ncbi request reprint Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda
    P T Christie
    Molecular Endocrinology Group, Nuffield Department of Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DU, United Kingdom
    J Clin Endocrinol Metab 86:3233-6. 2001
    ..The results of our study expand the spectrum of SEDLIN mutations associated with SEDT, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia...
  18. ncbi request reprint Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3
    S R Twigg
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Hum Mol Genet 7:685-91. 1998
    ..Inclusion or exclusion of the Val-Thr dipeptide may play an important role in controlling FGFR signalling through the Ras/MAPK pathway...
  19. ncbi request reprint Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
    M Oldridge
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Nat Genet 24:275-8. 2000
    ..Expression of the mouse mouse orthologue, Ror2, early in limb development indicates that BDB arises as a primary defect of skeletal patterning...
  20. ncbi request reprint Craniosynostosis: genes and mechanisms
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 6:1647-56. 1997
    ....
  21. pmc Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity
    M Oldridge
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Am J Hum Genet 64:578-85. 1999
    ..These results enable a refined classification of BDB and identify a novel locus for digit morphogenesis in 9q22...
  22. ncbi request reprint Newly recognised craniosynostosis syndrome that does not map to known disease loci
    E M Blair
    Department of Clinical Genetics, Oxford Radcliffe Hospital NHS Trust, The Churchill, United Kingdom
    Am J Med Genet 95:4-9. 2000
    ..Given the clinical novelty and parental consanguinity, we hypothesise that the affected individuals were autozygous for a recessively inherited mutation, at a novel locus, predisposing to craniosynostosis...
  23. ncbi request reprint Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
    M Oldridge
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 4:1077-82. 1995
    ..The first deletion within an FGFR gene is reported. Together with mutations in exon IIIc these account for 25 mutations out of 40 Crouzon patients studied in our combined series (5)...
  24. pmc X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
    R J Gibbons
    MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, U K
    Am J Hum Genet 51:1136-49. 1992
    ..Furthermore, they represent an important step in developing strategies to understand how the mutant ATR-X allele causes mental handicap, dysmorphism, and down-regulation of the alpha-globin genes...
  25. ncbi request reprint A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
    A O Wilkie
    MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK
    Nature 346:868-71. 1990
    ..The mutation is stably inherited, proving that telomeric DNA alone is sufficient to stabilize the broken chromosome end. This mechanism may occur in any genetic disease associated with chromosome truncation...
  26. pmc Localisation of human alpha globin to 16p13.3----pter
    V J Buckle
    Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford
    J Med Genet 25:847-9. 1988
    ..13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter...
  27. 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...
  28. 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
    ....
  29. ncbi request reprint 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...
  30. ncbi request reprint 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...
  31. 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...
  32. doi request reprint 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...
  33. ncbi request reprint 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...
  34. ncbi request reprint 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...
  35. ncbi request reprint 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...
  36. ncbi request reprint 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...
  37. 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...
  38. 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...
  39. ncbi request reprint 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...
  40. ncbi request reprint 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
    ....
  41. ncbi request reprint 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...
  42. ncbi request reprint Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2
    Andrew O M Wilkie
    Am J Med Genet 111:105. 2002
  43. 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...
  44. 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...
  45. 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
    ....
  46. ncbi request reprint 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...
  47. ncbi request reprint 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...
  48. 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
    ....
  49. ncbi request reprint 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...
  50. 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...
  51. ncbi request reprint Cancer drugs to treat birth defects
    Andrew O M Wilkie
    Nat Genet 39:1057-9. 2007
  52. ncbi request reprint 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...
  53. ncbi request reprint 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
    ....
  54. 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...
  55. ncbi request reprint 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...
  56. 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...
  57. ncbi request reprint 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...
  58. ncbi request reprint 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...
  59. ncbi request reprint 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...
  60. ncbi request reprint 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
    ....
  61. ncbi request reprint 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...
  62. ncbi request reprint 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...
  63. ncbi request reprint 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...