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Veronica van Heyningen

Showing results (31-40 of 82) with videos related to

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American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.
Ophthalmic Genetics|September 27, 2007
PAX6 mutations may be associated with high myopiaAlex W Hewitt, Lisa S Kearns, Robyn V Jamieson, et al.
Developmental Biology|January 21, 2014
A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagosShipra Bhatia, Jack Monahan, Vydianathan Ravi, et al.
BMC Developmental Biology|May 6, 2006
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouseDavid A Tyas, T Ian Simpson, Catherine B Carr, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Molecular analysis of a human PAX6 homeobox mutantAngela Valentina D'Elia, Cinzia Puppin, Lucia Pellizzari, et al.
Annals of Neurology|September 25, 2004
Deficient auditory interhemispheric transfer in patients with PAX6 mutationsDoris-Eva Bamiou, Frank E Musiek, Sanjay M Sisodiya, et al.
European Journal of Human Genetics : EJHG|April 5, 2007
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.
Investigative Ophthalmology & Visual Science|October 27, 2004
Absence of SIX6 mutations in microphthalmia, anophthalmia, and colobomaSaima Aijaz, Brian J Clark, Kathleen Williamson, et al.
American Journal of Human Genetics|December 3, 2013
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridiaShipra Bhatia, Hemant Bengani, Margaret Fish, et al.
Plos Genetics|June 13, 2009
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesisStephen N Sansom, Dean S Griffiths, Andrea Faedo, et al.
Pageof 9

Showing results (31-40 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.
Ophthalmic Genetics|September 27, 2007
PAX6 mutations may be associated with high myopiaAlex W Hewitt, Lisa S Kearns, Robyn V Jamieson, et al.
Developmental Biology|January 21, 2014
A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagosShipra Bhatia, Jack Monahan, Vydianathan Ravi, et al.
BMC Developmental Biology|May 6, 2006
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouseDavid A Tyas, T Ian Simpson, Catherine B Carr, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Molecular analysis of a human PAX6 homeobox mutantAngela Valentina D'Elia, Cinzia Puppin, Lucia Pellizzari, et al.
Annals of Neurology|September 25, 2004
Deficient auditory interhemispheric transfer in patients with PAX6 mutationsDoris-Eva Bamiou, Frank E Musiek, Sanjay M Sisodiya, et al.
European Journal of Human Genetics : EJHG|April 5, 2007
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.
Investigative Ophthalmology & Visual Science|October 27, 2004
Absence of SIX6 mutations in microphthalmia, anophthalmia, and colobomaSaima Aijaz, Brian J Clark, Kathleen Williamson, et al.
American Journal of Human Genetics|December 3, 2013
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridiaShipra Bhatia, Hemant Bengani, Margaret Fish, et al.
Plos Genetics|June 13, 2009
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesisStephen N Sansom, Dean S Griffiths, Andrea Faedo, et al.
Pageof 9