检索结果 - Jennifer C. Dempsey

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  1. 1
    Prospective Study of Gestational Diabetes Mellitus Risk in Relation to Maternal Recreational Physical Activity before and during Pregnancy

    Prospective Study of Gestational Diabetes Mellitus Risk in Relation to Maternal Recreational Physical Activity before and during Pregnancy 由 Jennifer C. Dempsey

    出版 2004
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  2. 2
    Quantification and prediction of human fetal (-)-Δ9-tetrahydrocannabinol/(±)-11-OH-Δ9-tetrahydrocannabinol exposure during pregnancy to inform fetal cannabis toxicity

    Quantification and prediction of human fetal (-)-Δ9-tetrahydrocannabinol/(±)-11-OH-Δ9-tetrahydrocannabinol exposure during pregnancy to inform fetal cannabis toxicity 由 Aditya R. Kumar, Lyndsey S. Benson, Erica Wymore, Jocelyn E. Phipers, Jennifer C. Dempsey, Lucinda A. Cort, Jashvant D. Unadkat

    出版 2025
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  3. 3
    Family History of Hypertension and Type 2 Diabetes in Relation to Preeclampsia Risk

    Family History of Hypertension and Type 2 Diabetes in Relation to Preeclampsia Risk 由 Chunfang Qiu, Michelle A. Williams, Wendy M. Leisenring, Tanya K. Sorensen, Ihunnaya O. Frederick, Jennifer C. Dempsey, David A. Luthy

    出版 2003
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  4. 4
    Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations

    Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations 由 Jia-Der Ju-Wang, Jennifer C. Dempsey, Cristian Zhang, Daniel Doherty, Mary Anne Tablizo, Mary Anne Tablizo, Maida Lynn Chen

    出版 2025
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  5. 5
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

    <i>KIAA0586</i>is Mutated in Joubert Syndrome 由 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

    出版 2015
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  6. 6
    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 由 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

    出版 2012
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  7. 7
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes 由 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

    出版 2015
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  8. 8
    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy 由 Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern‐Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz‐González, Marco Tartaglia, Maya Chopra, Dan Doherty

    出版 2016
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  9. 9
    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy 由 Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, François Bernier, Kym M. Boycott, Jacek Majewski, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

    出版 2014
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  10. 10
    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome 由 Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari, Katherine Robbins, Karen W. Gripp, Wagner Antonio da Rosa Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol‐Church

    出版 2018
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  11. 11
    Healthcare recommendations for Joubert syndrome

    Healthcare recommendations for Joubert syndrome 由 Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D’Arrigo, Ian Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay‐Aygun, Enza Maria Valente, Dan Doherty

    出版 2019
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  12. 12
    MKS1 regulates ciliary INPP5E levels in Joubert syndrome

    MKS1 regulates ciliary INPP5E levels in Joubert syndrome 由 Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

    出版 2015
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  13. 13
    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish 由 Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han Hank Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann‐Gagescu, Dan Doherty

    出版 2017
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  14. 14
    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity 由 Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O’Roak, Dana Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden, Jonathan Adkins, E A Boyle, Nathan Lacy, Diana R. O’Day, Abdulrahman Alswaid, Radha Ramadevi A, Lokesh Lingappa, Charles Marques Lourenço, Loreto Martorell, Ángeles García‐Cazorla, Hamìt Özyürek, Göknur Haliloğlu, Beyhan Tüysüz, Meral Topçu, P. F. Chance, Melissa A. Parisi, Ian Glass, Jay Shendure, Dan Doherty

    出版 2015
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  15. 15
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy 由 Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    出版 2013
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  16. 16
    Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

    Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome 由 Brooke Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz, Stef J.F. Letteboer, Arianna Gómez, Ranad Shaheen, Matthias Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso‐Gil, Manali Chitre, Megan E. Grout, Jeroen van Reeuwijk, Sylvia E. C. van Beersum, Caitlin V. Miller, Jennifer C. Dempsey, Heba Morsy, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, Karsten Boldt, Marius Ueffing, Mohammad Keramatipour, John A. Sayer, Fowzan S. Alkuraya, Ruxandra Bachmann‐Gagescu, Ronald Roepman, Dan Doherty

    出版 2020
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