University home page

Find an ExpertProfiling the University of Melbourne's Researchers

DR AGNES BANKIER



Contact Details

Organization: Paediatrics Royal Children's Hospital
Position: Honorary (Senior Fellow)

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2008

Journal Articles

Publications in 2007

Journal Articles

  • Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis
    Year: 2007
    Journal: Journal of Paediatrics and Child Health
    Volume: 43
    Page numbers: 721-723
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Keipert Syndrome (Nasodigitoacoustic Syndrome) is X-linked and maps to Xq22.2 - Xq28
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Page numbers: 2236-2241
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2006

Journal Articles

  • A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services
    Year: 2006
    Journal: British Journal of Cancer
    Volume: 95
    Page numbers: 1448-1453
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Construction and use of facial archetypes in anthropology and syndrome diagnosis
    Year: 2006
    Journal: Forensic Science International
    Volume: 159
    Issue: Suppl 1
    Page numbers: S175-S185
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia
    Year: 2006
    Journal: Clinical Dysmorphology
    Volume: 15
    Page numbers: 101-105
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2005

Journal Articles

  • A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu Syndrome.
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 130A
    Issue: 3
    Page numbers: 216-220
    Publisher: Wiley-Liss(New York)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
    Year: 2005
    Journal: Journal of Medical Genetics
    Volume: 42
    Issue: 8
    Page numbers: 656-662
    Publisher: BMJ Publishing Group(London)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Screening couples for cystic fibrosis carrier status: why are we waiting?
    Year: 2005
    Journal: Medical Journal of Australia
    Volume: 183
    Issue: 10
    Page numbers: 501-502
    Publisher: Australasian Medical Publishing Co Ltd(Sydney)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling
    Year: 2005
    Journal: Genetics in Medicine
    Volume: 7
    Issue: 9
    Page numbers: 626-632
    Publisher: Lippincott Williams & Wilkins
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • The adult phenotype in Costello syndrome
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 136A
    Page numbers: 128-135
    Publisher: Wiley-Liss(New York)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2004

Journal Articles

  • Growth, behaviour, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome.
    Year: 2004
    Journal: American Journal of Medical Genetics
    Volume: 127A
    Issue: 2
    Page numbers: 118-127
    Publisher: Wiley-Liss(New York)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Retention of Guthrie cards: Reassuring patients
    Year: 2004
    Journal: Medicine Today
    Volume: 5
    Issue: 2
    Page numbers: 68-71
    Publisher: Medicine Today
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2003

Journal Articles

  • Evaluation of a Tay-Sachs Disease screening program.
    Year: 2003
    Journal: Clinical Genetics
    Volume: 63
    Issue: 5
    Page numbers: 386-392
    Publisher: Munksgaard International Publishers(Copenhagen)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Log odds of carrying an ancestral mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
    Year: 2003
    Journal: Breast Cancer Research
    Volume: 5
    Issue: 6
    Page numbers: R206-R216
    Publisher: Publications Current Science(London)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
    Year: 2003
    Journal: Neuromuscular Disorders
    Volume: 13
    Issue: 2
    Page numbers: 151-157
    Publisher: Pergamon
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
    Year: 2003
    Journal: Clinical Dysmorphology
    Volume: 12
    Issue: 2
    Page numbers: 109-113
    Publisher: Lippincott Williams & Wilkins
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
  • Variable expression of campomelic dysplasia in a father and his 46, XY daughter.
    Year: 2003
    Journal: Pediatric Pathology & Molecular Medicine
    Volume: 22
    Issue: 1
    Page numbers: 37-46
    Publisher: Taylor & Francis Ltd(Philadelphia)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2002

Journal Articles

  • Molecular analysis for genetic counselling in amelogenesis imperfecta
    Year: 2002
    Journal: Oral Diseases
    Volume: 8
    Page numbers: 249-253
    Publisher: Blackwell Munksgaard(Copenhagen)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.

Publications in 2001

Journal Articles

  • Chromosomal Abnormalities in Idiopathic Congenital Bilateral Vocal Cord Paralysis
    Year: 2001
    Journal: Annals of Otology, Rhinology and Laryngology
    Volume: 110
    Page numbers: 624-626
    Publisher: Annals Publishing(St Louis)
    Author(s):
    Super Search Source this item in the University's Catalouge locate this resource.
top of page