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PROF MARTIN DELATYCKI



Contact Details

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

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Grants and Contracts

Research Grants, Contracts and Consultancies awarded to the University of Melbourne as the administering institution (since 2003) as recorded in Themis Agreements.

Grants

Title Role Funding Source Scheme Award Date
Epidemiology of Hereditary Haemochromatosis Chief Investigator NHMRC Project Grants 01/01/2003
Communicating genetic information in families: practical, legal, social and ethical issues Chief Investigator AUST RESEARCH COUNCIL Discovery Projects 01/01/2005

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 2009

Journal Articles

  • A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis
    Year: 2009
    Journal: British Journal of Haematology
    Volume: 147
    Page numbers: 140-149
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Publications in 2008

Journal Articles

  • 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening
    Year: 2008
    Journal: European Journal of Human Genetics
    Volume: 16
    Issue: 4
    Page numbers: 435-444
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  • Asympomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload


    Year: 2008
    Journal: Liver International
    Volume: 28
    Issue: 3
    Page numbers: 363-369
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  • Population screening for reproductive risk for single gene disorders in Australia: now and the future

     


    Year: 2008
    Journal: Twin Research and Human Genetics
    Volume: 11
    Issue: 1
    Page numbers: 422-430
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  • Regional and cellular localisation of Parkin Co-Regulated Gene in developing and adult mouse brain


    Year: 2008
    Journal: Brain Research
    Volume: 1201
    Page numbers: 177-186
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  • Asympomatic persons identified by community screening as homozygous for haemochromatosis take appropriate steps to prevent iron overload related disease
    Year: 2008
    Journal: Liver
    Volume: 3
    Issue: 28
    Page numbers: 363-369
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  • Health first, genetics second: exploring families' experiences of communicating genetic information
    Year: 2008
    Journal: European Journal of Human Genetics
    Volume: 2008
    Page numbers: 1 - 7
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  • LIS1 and DCX MLPA: Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
    Year: 2008
    Journal: European Journal of Human Genetics
    Volume: 3
    Issue: DECEMBER
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  • No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
    Year: 2008
    Journal: Clinical Dysmorphology
    Volume: 17
    Issue: 3
    Page numbers: 181-185
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  • Regional and cellular location  of Parkin co-regulated gene in developing and adult mouse brain.
    Year: 2008
    Journal: Brain Research
    Volume: 1201
    Page numbers: 177-186
    Author(s):
    URL - open access http://www.ncbi.nlm.nih.gov/pubmed/18295750
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  • Speech perception ability in individuals with Friedreich ataxia
    Year: 2008
    Journal: Brain
    Volume: 131
    Page numbers: 2002-2012
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  • The natural history of serum iron indices for HFE C282Y homozygosity associated with heredityary hemochromatosis
    Year: 2008
    Journal: Gastroenterology
    Volume: 135
    Page numbers: 1945-1952
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  • Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
    Year: 2008
    Journal: Brain
    Volume: 131
    Issue: pt 4
    Page numbers: 1035-1045
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Publications in 2007

Book Chapters

  • Genetic Counselling
    Year: 2007
    Book: Practical Paediatrics
    Publisher: Elsevier(Philadelphia)
    Authors(s):

Journal Articles

  • "Holding Your Breath": Interviews with young people who have undergone predictive genetic testing for Huntington Disease
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Page numbers: 1984-1989
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  • C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Year: 2007
    Journal: Nature Genetics
    Volume: 39
    Issue: 9
    Page numbers: 1068-1070
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  • Newborn screening for mucopolysaccharidoses: opinions of patients and their families
    Year: 2007
    Journal: Clinical Genetics
    Volume: 71
    Page numbers: 446-450
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  • Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of parkinsonian diseases
    Year: 2007
    Journal: Neurobiology of Disease
    Volume: 27
    Page numbers: 238-247
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  • Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important
    Year: 2007
    Journal: European Journal of Neurology
    Volume: 14
    Page numbers: 1040-1047
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  • Retrospective analysis of patients attending a neurofibromatosis type 1 clinic
    Year: 2007
    Journal: Journal of Paediatrics and Child Health
    Volume: 43
    Page numbers: 55-59
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Publications in 2006

Journal Articles

  • Educational outcomes of a workplace screening program for a genetic susceptibility to hemochromatosis
    Year: 2006
    Journal: Clinical Genetics
    Volume: 69
    Page numbers: 163-170
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  • Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia
    Year: 2006
    Journal: Genetics in Medicine
    Volume: 8
    Issue: 11
    Page numbers: 673-680
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  • It's 'back to school' for genetic screening
    Year: 2006
    Journal: European Journal of Human Genetics
    Volume: 14
    Page numbers: 384-389
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  • Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellecutal disability
    Year: 2006
    Journal: Clinical Dysmorphology
    Volume: 15
    Issue: 2
    Page numbers: 95-99
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  • Predictive genetic testing in young people for adult-onset conditions: Where is the empirical evidence?
    Year: 2006
    Journal: Clinical Genetics
    Volume: 69
    Page numbers: 8-16
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  • Refusing to provide a prenatal test: can it ever be ethical?
    Year: 2006
    Journal: BMJ
    Volume: 333
    Page numbers: 1066 - 1068
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Publications in 2005

Journal Articles

  • An international survey of predictive genetic testing in children for adult onset conditions
    Year: 2005
    Journal: Genetics in Medicine
    Volume: 7
    Issue: 6
    Page numbers: 390-396
    Publisher: Lippincott Williams & Wilkins
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  • Ethical considerations in presymptomatic testing for variant CJD
    Year: 2005
    Journal: Journal of Medical Ethics
    Volume: 31
    Page numbers: 625-630
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  • Response to Spriggs: is conceiving a child to benefit another against the interest of the new child?
    Year: 2005
    Journal: Journal of Medical Ethics
    Volume: 31
    Issue: 6
    Page numbers: 343-343
    Publisher: BMJ Publishing Group(London)
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  • 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)
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  • Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
    Year: 2005
    Journal: Archives of Disease in Childhood
    Volume: 90
    Issue: 12
    Page numbers: 1239-1242
    Publisher: BMJ Publishing Group(London)
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  • Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence
    Year: 2005
    Journal: Clinical Orthopaedics and Related Research
    Volume: 430
    Page numbers: 138-141
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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Publications in 2004

Journal Articles

  • A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
    Year: 2004
    Journal: Clinical Genetics
    Volume: 65
    Issue: 5
    Page numbers: 378-383
    Publisher: Munksgaard International Publishers(Copenhagen)
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  • Friedreich ataxia - update on pathogenesis and possible therapies
    Year: 2004
    Journal: Neurogenetics
    Volume: 5
    Issue: 1
    Page numbers: 1-8
    Publisher: Springer(New York)
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  • 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)
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  • Hereditary hemochromatosis testing of at-risk children: what is the appropriate age?
    Year: 2004
    Journal: Genetic Testing
    Volume: 8
    Issue: 2
    Page numbers: 98-103
    Publisher: Mary Ann Leibert Publishers(New Rochelle, NY)
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  • Multimedia messages in genetics: design, development and evaluation of a computer based instructional resource for secondary students in a Tay Sachs disease carrier program
    Year: 2004
    Journal: Genetics in Medicine
    Volume: 6
    Issue: 4
    Page numbers: 226-231
    Publisher: Lippincott Williams & Wilkins
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  • Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic x-linked mental retardation.
    Year: 2004
    Journal: American Journal of Human Genetics
    Volume: 75
    Issue: 2
    Page numbers: 305-309
    Publisher: University of Chicago Press(Illinois)
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  • The clinical picture of the borjeson-forssman-lehmann syndrome in males nad heterozygous females shown to have mutations in the PHF6 gene
    Year: 2004
    Journal: Clinical Genetics
    Volume: 65
    Page numbers: 226-232
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Publications in 2003

Journal Articles

  • A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype
    Year: 2003
    Journal: Journal of Medical Genetics
    Volume: 40
    Page numbers: e15
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  • 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)
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Publications in 2002

Book Chapters

  • Genetic counselling
    Year: 2002
    Book: Practical Paediatrics
    Publisher: Churchill Livingstone(Sydney)
    Authors(s):

Journal Articles

  • Commentary on Gebhardt: Sperm donor suffers years later from inherited disease
    Year: 2002
    Journal: Journal of Medical Ethics
    Volume: 28
    Page numbers: 213-214
    Publisher: BMJ Publishing Group(London)
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  • Letter to the editor: Normal levels of soluble transferrin receptor in Friedreich ataxia
    Year: 2002
    Journal: Clinical Genetics
    Volume: 62
    Page numbers: 250-251
    Publisher: Munksgaard International Publishers(Copenhagen)
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  • Letter to the editor: Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    Year: 2002
    Journal: The Lancet
    Volume: 360
    Issue: August 3, 2002
    Page numbers: 412-413
    Publisher: Lancet(London)
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  • Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome
    Year: 2002
    Journal: Nature Genetics
    Volume: 32
    Issue: 4
    Page numbers: 661-665
    Publisher: Nature America(New York)
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  • Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians
    Year: 2002
    Journal: Clinical Genetics
    Volume: 62
    Page numbers: 418-421
    Publisher: Munksgaard International Publishers(Copenhagen)
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