Julie McGaughran

Summary

Country: Australia

Publications

  1. ncbi request reprint Setleis syndrome: three new cases and a review of the literature
    Julie McGaughran
    Northern Regional Genetic Service, Auckland Hospital, New Zealand
    Am J Med Genet 111:376-80. 2002
  2. ncbi request reprint A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Herston, Brisbane 4029, Queensland, Australia
    Clin Dysmorphol 15:89-93. 2006
  3. ncbi request reprint Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Brisbane, Queensland, Australia
    Am J Med Genet A 137:302-4. 2005
  4. ncbi request reprint Hereditary pancreatitis in a family of Aboriginal descent
    J M McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Brisbane, Queensland, Australia
    J Paediatr Child Health 40:487-9. 2004
  5. ncbi request reprint Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association
    Paul A James
    Northern Regional Genetics Services, Auckland Hospital, Auckland, New Zealand
    Am J Med Genet 110:78-84. 2002
  6. ncbi request reprint A severe case of oculo-ectodermal syndrome?
    Paul A James
    Northern Regional Genetic Service, Auckland, New Zealand
    Clin Dysmorphol 11:179-82. 2002
  7. ncbi request reprint Prenatal diagnosis of mosaic trisomy 20 in New Zealand
    Paul A James
    Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand
    Aust N Z J Obstet Gynaecol 42:486-9. 2002
  8. ncbi request reprint Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:975-6. 2006
  9. ncbi request reprint SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 26:282. 2005
  10. ncbi request reprint Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 132:1-7. 2005

Collaborators

  • Paul A James
  • Salim Aftimos
  • Tony Roscioli
  • Jurgen Kohlhase
  • Susann Schweiger
  • L Faivre
  • Dian Donnai
  • R B Lowry
  • John M Opitz
  • Elke M Botzenhart
  • May Tassabehji
  • Wiktor Borozdin
  • Albert Schinzel
  • Joyce So
  • Anthony Raizis
  • Charles E de Bock
  • Emma Howard
  • Zhongming Zhao
  • Emma N Hilton
  • Ashish Diwan
  • Raymond A Clarke
  • Forbes D C Manson
  • Dedee Murrell
  • Michael Malass
  • Zhi Ming Fang
  • Michael J Bamshad
  • Dorothea Wand
  • Ana M Bravo Ferrer Acosta
  • Stephanie Spranger
  • Johannes Lemke
  • Ursula G Froster
  • Krystyna H Chrzanowska
  • Helen Firth
  • Fred Petrij
  • Vera Kalscheuer
  • Geneviève Pierquin
  • J J van der Smagt
  • Jennifer Winter
  • Mordechai Shohat
  • Sylvie Odent
  • Peter Lunt
  • Gabriele Gillessen-Kaesbach
  • Zofia Kijas
  • Bettina Moser
  • Helena Ilyina
  • Kalle O J Simola
  • Leah Burke
  • Claude Moraine
  • Rainer König
  • Peter Meinecke
  • Ivan F M Lo
  • Vanessa Suckow
  • Bernd Rösler
  • Beate Albrecht
  • Timothy Cox
  • Ben Hamel
  • Ineke van der Burgt
  • Margo L Whiteford
  • Koen Devriendt
  • Marieke Baars
  • Ronit Chafai
  • Andrew Green
  • Fiona McKenzie
  • Ron C Michaelis
  • Peter George
  • Richard Clemett
  • Jane Evans
  • Rob Corbett

Detail Information

Publications15

  1. ncbi request reprint Setleis syndrome: three new cases and a review of the literature
    Julie McGaughran
    Northern Regional Genetic Service, Auckland Hospital, New Zealand
    Am J Med Genet 111:376-80. 2002
    ..These patients also suggest that developmental problems may be a more common manifestation than previously described. Two of the patients are the first described of Pacific Island descent...
  2. ncbi request reprint A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Herston, Brisbane 4029, Queensland, Australia
    Clin Dysmorphol 15:89-93. 2006
    ..Mutation analysis was undertaken and demonstrated the FGFR2 Y375C mutation. This case, one of only nine with molecular analysis, confirms the significant morbidity associated with this syndrome...
  3. ncbi request reprint Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Brisbane, Queensland, Australia
    Am J Med Genet A 137:302-4. 2005
    ..As their parents are phenotypically normal and do not have the mutation in lymphocyte-derived DNA, the most likely explanation is germ-line mosaicism...
  4. ncbi request reprint Hereditary pancreatitis in a family of Aboriginal descent
    J M McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Brisbane, Queensland, Australia
    J Paediatr Child Health 40:487-9. 2004
    ..We emphasize the need to ascertain a full family history from patients with a history of repeated episodes of acute pancreatitis and also emphasize the need to avoid ethnic stereotypes when assessing patients...
  5. ncbi request reprint Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association
    Paul A James
    Northern Regional Genetics Services, Auckland Hospital, Auckland, New Zealand
    Am J Med Genet 110:78-84. 2002
    ..We report an adult patient with complete manifestations of both conditions. As an adult she has demonstrated resolution of the hemangiomas and only mild intellectual difficulties...
  6. ncbi request reprint A severe case of oculo-ectodermal syndrome?
    Paul A James
    Northern Regional Genetic Service, Auckland, New Zealand
    Clin Dysmorphol 11:179-82. 2002
    ..The parents are of New Zealand Maori ancestry and are related as half first cousins, raising the possibility that this syndrome may be recessively inherited...
  7. ncbi request reprint Prenatal diagnosis of mosaic trisomy 20 in New Zealand
    Paul A James
    Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand
    Aust N Z J Obstet Gynaecol 42:486-9. 2002
    ..We aimed to identify known mosaic trisomy 20 pregnancies in New Zealand in the last 10 years and document their outcome...
  8. ncbi request reprint Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:975-6. 2006
    ..In addition, we also present eight novel TBX5 mutations (three nonsense, one splice mutation, four short deletions) as detected by direct sequencing in 21 families not previously analyzed for mutations...
  9. ncbi request reprint SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 26:282. 2005
    ....
  10. ncbi request reprint Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 132:1-7. 2005
    ..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...
  11. ncbi request reprint Klippel-Feil anomaly and neural tube defects
    Julie McGaughran
    Am J Med Genet A 127:327-8. 2004
  12. ncbi request reprint Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman
    Julie McGaughran
    Am J Med Genet A 116:210-2. 2003
  13. ncbi request reprint Improved clinical management of retinoblastoma through gene testing
    Anthony Raizis
    Department of Molecular Pathology, Christchurch School of Medicine
    N Z Med J 115:231-4. 2002
    ..To investigate the relative benefits of retinoblastoma gene testing over conventional ophthalmological screening methods in a New Zealand setting, and to determine the importance of tumour material in resolving germline status...
  14. ncbi request reprint Craniofrontonasal syndrome and diaphragmatic hernia
    Julie McGaughran
    Am J Med Genet 110:391-2. 2002
  15. doi request reprint Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
    May Tassabehji
    Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary s Hospital, Manchester, United Kingdom
    Hum Mutat 29:1017-27. 2008
    ....