Výsledky vyhledávání - Joe Rainger

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  1. 1
    Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

    Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence Autor Joe Rainger, Smita Bhatia, Hemant Bengani, Philippe Gautier, Joe Rainger, Matthew Pearson, Morad Ansari, Jesse C. Crow, Felicity V. Mehendale, Božena Pálinkášová, M. J. Dixon, Pamela J. Thompson, Mar Matarín, S. M. Sisodiya, D. A. Kleinjan, David Fitzpatrick

    Vydáno 2013
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  2. 2
    The transcriptional signature associated with human motile cilia

    The transcriptional signature associated with human motile cilia Autor Anirudh Patir, Amy M. Fraser, Mark Barnett, Lynn McTeir, Joe Rainger, Megan G. Davey, Tom C. Freeman

    Vydáno 2020
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  3. 3
    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion Autor Holly Hardy, James Prendergast, Aara Patel, Sunit Dutta, Violeta Trejo-Reveles, Hannah Kroeger, Andrea R. Yung, Lisa V. Goodrich, Brian P. Brooks, Jane C. Sowden, Joe Rainger

    Vydáno 2019
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  4. 4
    Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

    Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects Autor Kathleen A. Williamson, Joe Rainger, James Floyd, Morad Ansari, Alison Meynert, Kishan V. Aldridge, Jacqueline K. Rainger, Carl A. Anderson, Anthony T. Moore, Matthew E. Hurles, Angus Clarke, Veronica van Heyningen, Alain Verloès, Martin S. Taylor, Andrew O.M. Wilkie, David Fitzpatrick

    Vydáno 2014
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  5. 5
    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome Autor Kathleen A. Williamson, Ann Hever, Joe Rainger, R. Curtis Rogers, Alex Magee, Z Fiedler, Wee Teik Keng, Freddie H. Sharkey, Niolette I. McGill, Clare J. Hill, Adele Schneider, Mario Messina, Peter D. Turnpenny, Judy Fantes, Veronica van Heyningen, David Fitzpatrick

    Vydáno 2006
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  6. 6
    A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

    A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Autor Chunqiao Liu, Sonya A. Widen, Kathleen A. Williamson, Rinki Ratnapriya, Christina Gerth‐Kahlert, Joe Rainger, Ramakrishna P. Alur, Erin Strachan, Souparnika H. Manjunath, Archana Balakrishnan, James Floyd, Tiansen Li, Andrew J. Waskiewicz, Brian P. Brooks, Ordan J. Lehmann, David Fitzpatrick, Anand Swaroop

    Vydáno 2016
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  7. 7
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH Autor Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    Vydáno 2012
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  8. 8
    Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Autor Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay, Lisa McKie, Lihadh Al‐Gazali, R Pallotta, Anita Saponari, Peter Branney, Malcolm E Fisher, Harris Morrison, Louise S. Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya Bardakjian, Adele Schneider, Nursel Elcioğlu, Ferda Özkınay, Rainer Koenig, André Mégarbané, C. Nur Semerci, Ayesha Khan, Saemah Nuzhat Zafar, Raoul C. M. Hennekam, Sérgio B. Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J. Jackson, Gabriele Gillessen‐Kaesbach, Han G. Brunner, Dagmar Wieczorek, Hans van Bokhoven, David Fitzpatrick

    Vydáno 2011
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  9. 9
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect Autor Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    Vydáno 2016
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  10. 10
    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations Autor Joe Rainger, Davut Pehli̇van, Stefan Johansson, Hemant Bengani, Luis Sánchez‐Pulido, Kathleen A. Williamson, Mehmet Türe, Heather Barker, Karen Rosendahl, Jürgen W. Spranger, Denise Horn, Alison Meynert, James Floyd, Trine Prescott, Carl A. Anderson, Jacqueline K. Rainger, Ender Karaca, Claudia Gonzaga‐Jauregui, Shalini N. Jhangiani, Donna M. Muzny, Anne Seawright, Dinesh C. Soares, Mira Kharbanda, Victoria Murday, Andrew J. Finch, Richard A. Gibbs, Veronica van Heyningen, Martin S. Taylor, Tahsin Yakut, Per M. Knappskog, Matthew E. Hurles, Chris P. Ponting, James R. Lupski, Gunnar Houge, David Fitzpatrick, Matthew E. Hurles, David Fitzpatrick, Saeed Al-Turki, Carl A. Anderson, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebhattin Cirak, Catherine Cosgrove, Allan Daly, Jamie Floyd, Chris Franklin, Marta Futema, Steve E. Humphries, Shane McCarthy, Hannah M. Mitchison, Francesco Muntoni, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, G Black Wood

    Vydáno 2014
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  11. 11
    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome Autor Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski

    Vydáno 2017
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