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DR HANS DAHL



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 2008

Journal Articles

  • A complex genetic bottleneck during embryogenesis explains the rapid segregation of mitochondrial DNA genotypes
    Year: 2008
    Journal: Nature Genetics
    Volume: 40
    Issue: 2
    Page numbers: 249-254
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  • A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
    Year: 2008
    Journal: Nature Genetics
    Volume: 40
    Issue: 2
    Page numbers: 249-254
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  • Advances in Molecular and Cellular Therapies for Hearing Loss
    Year: 2008
    Journal: Molecular Therapy
    Volume: 16
    Issue: 2
    Page numbers: 224-236
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  • An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss
    Year: 2008
    Journal: Human Mutation
    Volume: 29
    Issue: 1
    Page numbers: 130-141
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  • Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.
    Year: 2008
    Journal: Paediatric Anaesthesia
    Volume: 38
    Issue: 4
    Page numbers: 293-295
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  • Mutation of C20orf7 disrupts Complex I assembly and causes lethal neonatal mitochondrial disease
    Year: 2008
    Journal: American Journal of Human Genetics
    Volume: 83
    Issue: 4
    Page numbers: 468-478
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  • Transient CNS symptoms after hyperventilation in pediatric X-linked Charcot-Marie-Tooth disease
    Year: 2008
    Journal: Pediatric Neurology
    Volume: 38
    Issue: 4
    Page numbers: 293-295
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Publications in 2007

Journal Articles

  • A novel splice site mutation in EYA4 causes DFNA10 hearing loss
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Page numbers: 1599-1604
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  • Gene expression profiling analysis of the inner ear
    Year: 2007
    Journal: Hearing Research
    Volume: 225
    Issue: 1-2
    Page numbers: 1-10
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  • 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
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  • Levodopa Response in Parkinsonism with Multiple Mitochondrial DNA Deletions
    Year: 2007
    Journal: Movement Disorders
    Volume: 22
    Issue: 7
    Page numbers: 1020-1023
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  • Molecular Characterization of a Novel X-Linked Syndrome Involving Developmental Delay and Deafness
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Page numbers: 2564-2575
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Publications in 2006

Journal Articles

  • Gene expression changes during step-wise differentiation of embyronic stem cells along the inner ear hair cell pathway.


    Year: 2006
    Journal: Acta Oto-Laryngologica
    Volume: 126
    Page numbers: 1148-1157
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  • Detection of Mutations in Genes Associated with Hearing Loss Using a Microarray-Based Approach
    Year: 2006
    Journal: Journal of Molecular Diagnostics
    Volume: 8
    Issue: 4
    Page numbers: 483-489
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  • Genetic aspects of hearing loss
    Year: 2006
    Journal: Acoustics Australia
    Volume: 34
    Issue: 1
    Page numbers: 25-29
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  • Molecular Characterization and Expression of Maternally Expressed Gene 3 (Meg3/Gtl2) RNA in the Mouse Inner Ear
    Year: 2006
    Journal: Journal of Neuroscience Research
    Volume: 83
    Page numbers: 181-190
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  • Slight/Mild Sensorineural Hearing Loss in Children
    Year: 2006
    Journal: Pediatrics
    Volume: 118
    Issue: 5
    Page numbers: 1842-1851
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  • The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
    Year: 2006
    Journal: Journal of Medical Genetics
    Volume: 43
    Page numbers: 850-855
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Publications in 2005

Journal Articles

  • A novel deletion involving the connexin-30 gene, del(gJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
    Year: 2005
    Journal: Journal of Medical Genetics
    Volume: 42
    Issue: 7
    Page numbers: 588-594
    Publisher: BMJ Publishing Group(London)
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  • Clinical and molecular features of encephalomyopathy due to the a3302G mutation in the mitochondrial tRNA Leu(UUR) gene
    Year: 2005
    Journal: Archives of Neurology
    Volume: 62
    Issue: 12
    Page numbers: 1920-1923
    Publisher: American Medical Association(Illinois)
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  • Expression of the carrier protein apolipoprotein D in the mouse inner ear
    Year: 2005
    Journal: Hearing Research
    Volume: 200
    Issue: 1-2
    Page numbers: 102-114
    Publisher: Elsevier Science(Amsterdam)
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  • GJB2 mutations and degree of hearing loss: a multicenter study
    Year: 2005
    Journal: American Journal of Human Genetics
    Volume: 77
    Issue: 6
    Page numbers: 945-957
    Publisher: University of Chicago Press(Illinois)
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  • Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea.
    Year: 2005
    Journal: Journal of the Association for Research in Otolaryngology
    Volume: 6
    Page numbers: 341-354
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Publications in 2004

Journal Articles

  • NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
    Year: 2004
    Journal: Journal of Clinical Investigation
    Volume: 114
    Issue: 6
    Page numbers: 837-845
    Publisher: American Society of Clinical Investigation Inc(Michigan)
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  • Characterisation of DRASIC in the mouse inner ear
    Year: 2004
    Journal: Hearing Research
    Volume: 190
    Issue: 1-2
    Page numbers: 149-160
    Publisher: Elsevier Science(Amsterdam)
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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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  • Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.
    Year: 2003
    Journal: Journal of Medical Genetics
    Volume: 40
    Issue: 10
    Page numbers: 733-740
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  • In silico analyses of mouse inner-ear transcripts.
    Year: 2003
    Journal: Journal of the Association for Research in Otolaryngology
    Volume: 4
    Issue: 1
    Page numbers: 24-40
    Publisher: Springer Verlag(New York)
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  • Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations
    Year: 2003
    Journal: Audiology and Neuro-Otology
    Volume: 8
    Issue: 5
    Page numbers: 263-268
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  • Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicentre study.
    Year: 2003
    Journal: American Journal of Human Genetics
    Volume: 73
    Issue: 6
    Page numbers: 1452-1458
    Publisher: University of Chicago Press(Illinois)
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  • The V368I mutation in twinkle does not segregate with AdPEO.
    Year: 2003
    Journal: Annals of Neurology
    Volume: 53
    Issue: 2
    Page numbers: 278-278
    Publisher: Wiley-Liss(New York)
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Publications in 2002

Journal Articles

  • Clinical and molecular features of adPEO due to mutations in the Twinkle gene
    Year: 2002
    Journal: Journal of the Neurological Sciences
    Volume: 201
    Issue: 1
    Page numbers: 39-44
    Publisher: Elsevier Science
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  • Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Year: 2002
    Journal: Journal of Molecular Medicine
    Volume: 80
    Page numbers: 124-131
    Publisher: Springer Verlag(New York)
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Publications in 2001

Books

  • Seminars in medical genetics: Mitochondrial diseases
    Year: 2001
    Publisher: Wiley-Liss(New York)
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Journal Articles

  • Atomic force microscopy imaging of DNA-cationic liposome complexes optimised for gene transfection into neuronal cells.
    Year: 2001
    Journal: Journal of Gene Medicine
    Volume: 3
    Issue: 1
    Page numbers: 72-81
    Publisher: John Wiley & Sons(West Sussex)
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  • Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
    Year: 2001
    Journal: Journal of Medical Genetics
    Volume: 38
    Page numbers: 20-25
    Publisher: BMJ Publishing Group(London)
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  • Identification of a Novel COCH Mutation, H109N, Highlights the Similar Clinical Features Observed in DFNA9 Families
    Year: 2001
    Journal: Human Mutation
    Volume: 17
    Issue: 4
    Page numbers: 351
    Publisher: Wiley-Liss(New York)
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  • Mitochondrial diseases: beyond the magic circle
    Year: 2001
    Journal: American Journal of Medical Genetics
    Volume: 106
    Issue: 1
    Page numbers: 1-3
    Publisher: Wiley-Liss(New York)
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  • Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options
    Year: 2001
    Journal: American Journal of Medical Genetics
    Publisher: Wiley-Liss(New York)
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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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  • Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes
    Year: 2001
    Journal: FEBS Letters
    Volume: 500
    Page numbers: 183-185
    Publisher: Elsevier Science(Amsterdam)
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  • The pros and cons of mitochondrial manipulation in the human germ line
    Year: 2001
    Journal: Mitochondrion
    Volume: 1
    Issue: 2
    Page numbers: 123-127
    Publisher: Elsevier(Amsterdam)
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  • Why is my child deaf?
    Year: 2001
    Journal: Medicine Today
    Volume: 2
    Issue: 6
    Page numbers: 92-96
    Publisher: Medicine Today
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