Christopher T Gordon

Summary

Country: France

Publications

  1. pmc Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
    Christopher T Gordon
    Institut National de la Santé et de la Recherche Médicale U781, Hopital Necker Enfants Malades, 75015 Paris, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France Electronic address
    Am J Hum Genet 93:1118-25. 2013
  2. doi Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
    Christopher T Gordon
    INSERM U781, Tour Lavoisier 2ème étage, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
    J Med Genet 50:174-86. 2013
  3. doi CXCL14 expression during chick embryonic development
    Christopher T Gordon
    Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Australia
    Int J Dev Biol 55:335-40. 2011
  4. doi Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients
    Daphne Lehalle
    Département de génétique, Hopital Necker Enfants Malades, APHP, Paris, France
    Hum Mutat 35:478-85. 2014
  5. pmc bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1
    Kerry A Miller
    Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    PLoS ONE 8:e76342. 2013
  6. doi EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon
    Unité INSERM U781, faculté Paris Descartes, Institut Imagine, Paris, France
    J Med Genet 49:737-46. 2012
  7. doi Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo
    Christopher T Gordon
    Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville 3052, Australia
    Evol Dev 12:459-73. 2010
  8. ncbi Enhancer mutations and phenotype modularity
    Christopher T Gordon
    University Paris Descartes Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 46:3-4. 2014
  9. doi Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 48:825-30. 2011

Collaborators

Detail Information

Publications9

  1. pmc Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
    Christopher T Gordon
    Institut National de la Santé et de la Recherche Médicale U781, Hopital Necker Enfants Malades, 75015 Paris, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France Electronic address
    Am J Hum Genet 93:1118-25. 2013
    ..These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. ..
  2. doi Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
    Christopher T Gordon
    INSERM U781, Tour Lavoisier 2ème étage, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
    J Med Genet 50:174-86. 2013
    ..These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development...
  3. doi CXCL14 expression during chick embryonic development
    Christopher T Gordon
    Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Australia
    Int J Dev Biol 55:335-40. 2011
    ..Expression in several domains raises the possibility that CXCL14 may be involved in some of the same developmental events during which CXCL12-CXCR4 signalling is known to play a role...
  4. doi Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients
    Daphne Lehalle
    Département de génétique, Hopital Necker Enfants Malades, APHP, Paris, France
    Hum Mutat 35:478-85. 2014
    ..MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. ..
  5. pmc bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1
    Kerry A Miller
    Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    PLoS ONE 8:e76342. 2013
    ..The bfb strain provides new opportunities to investigate the role of Fras1 in development. ..
  6. doi EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon
    Unité INSERM U781, faculté Paris Descartes, Institut Imagine, Paris, France
    J Med Genet 49:737-46. 2012
    ..In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated...
  7. doi Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo
    Christopher T Gordon
    Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville 3052, Australia
    Evol Dev 12:459-73. 2010
    ..Consequently, variation in Dlx expression or activity may have influenced the morphology of jaw elements during vertebrate evolution...
  8. ncbi Enhancer mutations and phenotype modularity
    Christopher T Gordon
    University Paris Descartes Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 46:3-4. 2014
    ..A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ..
  9. doi Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 48:825-30. 2011
    ..The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is expressed and conversely will differentiate as ovarian granulosa cells when SOX9 expression is switched off...