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A/PROF ROBERT GARDNER



Contact Details

Organization: Paediatrics Royal Children's Hospital
Position: Honorary (Principal Fellow)
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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 2007

Journal Articles

  • Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
    Year: 2007
    Journal: PLoS Genetics
    Volume: 3
    Issue: 6
    Page numbers: 1076-1082
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  • Deletions that reveal recessive genes
    Year: 2007
    Journal: European Journal of Human Genetics
    Volume: 15
    Page numbers: 1103-1104
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  • MURCS and thenar hypoplasia
    Year: 2007
    Journal: Clinical Dysmorphology
    Volume: 16
    Issue: 4
    Page numbers: 275-276
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Publications in 2005

Journal Articles

  • Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 136A
    Page numbers: 201-204
    Publisher: Wiley-Liss(New York)
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  • 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)
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  • Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
    Year: 2005
    Journal: BMC Medical Genetics
    Volume: 6
    Issue: 6
    Page numbers: 18
    Publisher: Biomed Central(London)
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  • Severe fetal brain dysgenesis with focal calcification
    Year: 2005
    Journal: Prenatal Diagnosis
    Volume: 25
    Page numbers: 362-364
    Publisher: Wiley Europe
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  • Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 134
    Issue: 1
    Page numbers: 104-109
    Publisher: Wiley-Liss(New York)
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Publications in 2004

Journal Articles

  • Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
    Year: 2004
    Journal: Brain
    Volume: 127
    Issue: 5
    Page numbers: 1172-1181
    Publisher: Oxford University Press(Oxford)
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Publications in 2003

Journal Articles

  • A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis.
    Year: 2003
    Journal: Neuroepidemiology
    Volume: 22
    Issue: 4
    Page numbers: 235-238
    Publisher: S Karger AG
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  • Another explanation for familial Cornelia de Lange syndrome.
    Year: 2003
    Journal: American Journal of Medical Genetics
    Volume: 118A
    Issue: 2
    Page numbers: 198-198
    Publisher: Wiley-Liss(New York)
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  • Novel p53 germline mutation in a patient with Li-Fraumeni syndrome.
    Year: 2003
    Journal: Internal Medicine Journal
    Volume: 33
    Issue: 12
    Page numbers: 621-621
    Publisher: Blackwell Science Asia(Carlton)
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  • Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse nutant.
    Year: 2003
    Journal: Neurobiology of Disease
    Volume: 13
    Issue: 2
    Page numbers: 147-157
    Publisher: Academic Press(California)
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Publications in 2002

Journal Articles

  • Familial Digital Arthropathy-Brachydactyly
    Year: 2002
    Journal: American Journal of Medical Genetics
    Volume: 108
    Page numbers: 234-240
    Publisher: Wiley-Liss(New York)
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  • Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3→q21
    Year: 2002
    Journal: Cytogenetic and Genome Research
    Volume: 97
    Page numbers: 158-162
    Publisher: S Karger AG
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Publications in 2001

Journal Articles

  • A new autosomal dominant pure cerebellar ataxia
    Year: 2001
    Journal: Neurology
    Volume: 57
    Issue: 10
    Page numbers: 1913-1915
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • 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)
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  • Clinical features of a large Australian pedigree with episodic ataxia type 1
    Year: 2001
    Journal: Movement Disorders
    Volume: 16
    Issue: 5
    Page numbers: 938-939
    Publisher: Wiley-Liss(New York)
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  • Microlissencephaly with cardiac, spinal and urogenital defects
    Year: 2001
    Journal: Clinical Dysmorphology
    Volume: 10
    Issue: 3
    Page numbers: 1-6
    Publisher: Lippincott Williams & Wilkins
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  • Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness
    Year: 2001
    Journal: Medical Journal of Australia
    Volume: 175
    Page numbers: 191-194
    Publisher: Australasian Medical Publishing Co Ltd(Sydney)
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