Risultati della ricerca - Dan Doherty

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  1. 1
    Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

    Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease di Dan Doherty

    Pubblicazione 2009
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  2. 2
    The genetics of cerebellar malformations

    The genetics of cerebellar malformations di Kimberly A. Aldinger, Dan Doherty

    Pubblicazione 2016
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  3. 3
    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach di Andrea Poretti, Eugen Boltshauser, Dan Doherty

    Pubblicazione 2014
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  4. 4
    Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

    Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics di Dan Doherty, Kathleen J. Millen, A. James Barkovich

    Pubblicazione 2013
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  5. 5
    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies

    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies di Julie C. Van De Weghe, Arianna Gómez, Dan Doherty

    Pubblicazione 2022
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  6. 6
    Joubert syndrome (and related disorders) (OMIM 213300)

    Joubert syndrome (and related disorders) (OMIM 213300) di Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass

    Pubblicazione 2007
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  7. 7
    Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum

    Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum di Nina de Lacy, Dan Doherty, Brian King, Srinivas Rachakonda, Vince D. Calhoun

    Pubblicazione 2017
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  8. 8
    Delta is a ventral to dorsal signal complementary to Serrate, another Notch ligand, in Drosophila wing formation.

    Delta is a ventral to dorsal signal complementary to Serrate, another Notch ligand, in Drosophila wing formation. di Dan Doherty, Georg Feger, Susan Younger-Shepherd, Lily Yeh Jan, Yuh Nung Jan

    Pubblicazione 1996
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  9. 9
    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking di Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

    Pubblicazione 2011
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  10. 10
    Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation

    Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation di Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich

    Pubblicazione 2008
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  11. 11
    Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

    Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome di Xiaoyu Shi, Galo García, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

    Pubblicazione 2017
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  12. 12
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

    <i>KIAA0586</i>is Mutated in Joubert Syndrome di Ruxandra Bachmann‐Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A. Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, Jay Shendure, Dan Doherty

    Pubblicazione 2015
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  13. 13
    Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice

    Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice di George Stratigopoulos, Jayne F. Martin Carli, Diana R. O’Day, Liheng Wang, Charles A. LeDuc, Patricia Lanzano, Wendy K. Chung, Michael Rosenbaum, Dieter Egli, Dan Doherty, Rudolph L. Leibel

    Pubblicazione 2014
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  14. 14
    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity di Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw, Hannah M. Tully, Margaret P Adam, Pedro A. Sanchez‐Lara, Ian Glass, Tessa Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty

    Pubblicazione 2012
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  15. 15
    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center di Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun

    Pubblicazione 2018
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  16. 16
    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction di Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson

    Pubblicazione 2017
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  17. 17
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes di Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo‐Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty

    Pubblicazione 2015
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  18. 18
    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies di Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O’Roak, Jennifer A. Lawson, Marwa M. Nabhan, Neveen A. Soliman, Dan Doherty, Friedhelm Hildebrandt

    Pubblicazione 2015
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  19. 19
    A human cell atlas of fetal chromatin accessibility

    A human cell atlas of fetal chromatin accessibility di Silvia Domcke, Andrew J. Hill, Riza M. Daza, Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Kimberly A. Aldinger, Dmitry Pokholok, Fan Zhang, Jennifer H. Milbank, Michael Zager, Ian Glass, Frank J. Steemers, Dan Doherty, Cole Trapnell, Darren A. Cusanovich, Jay Shendure

    Pubblicazione 2020
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  20. 20
    A human cell atlas of fetal gene expression

    A human cell atlas of fetal gene expression di Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Paul D. Kingsley, Mei Deng, Riza M. Daza, Michael Zager, Kimberly A. Aldinger, Ronnie Blecher‐Gonen, Fan Zhang, Malte Spielmann, James Palis, Dan Doherty, Frank J. Steemers, Ian Glass, Cole Trapnell, Jay Shendure

    Pubblicazione 2020
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