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  1. 1
    Genome-wide comparisons of variation in linkage disequilibrium

    Genome-wide comparisons of variation in linkage disequilibrium por Yik Ying Teo, Andrew E. Fry, Kanishka Bhattacharya, Kerrin S. Small, Dominic Kwiatkowski, Taane G. Clark

    Publicado em 2009
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  2. 2
    Tubulin genes and malformations of cortical development

    Tubulin genes and malformations of cortical development por Romina Romaniello, Filippo Arrigoni, Andrew E. Fry, Maria Teresa Bassi, Mark I. Rees, Renato Borgatti, Daniela T. Pilz, Thomas D. Cushion

    Publicado em 2018
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  3. 3
    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature

    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of publishe... por Meena Balasubramanian, Josh Willoughby, Andrew E. Fry, Astrid Weber, Helen V. Firth, Charu Deshpande, Jonathan Berg, Kate Chandler, Kay Metcalfe, Wayne Lam, Daniela T. Pilz, Susan Tomkins

    Publicado em 2017
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  4. 4
    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A por Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz

    Publicado em 2013
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  5. 5
    Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility

    Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility por Taane G. Clark, Andrew E. Fry, Sarah Auburn, Susana Campino, Mahamadou Diakité, Angela Green, Anna Richardson, Yik Ying Teo, Kerrin S. Small, Jonathan P. Wilson, Muminatou Jallow, Fatou Sisay-Joof, Margaret Pinder, Pardis C. Sabeti, Dominic Kwiatkowski, Kirk A. Rockett

    Publicado em 2009
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  6. 6
    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration por Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew E. Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

    Publicado em 2018
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  7. 7
    Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria

    Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria por Andrew E. Fry, Michael J. Griffiths, Sarah Auburn, Mahamadou Diakité, Julian Forton, Angela Green, Anna Richardson, Jonathan P. Wilson, Muminatou Jallow, Fatou Sisay-Joof, Margaret Pinder, Norbert Peshu, Thomas N. Williams, Kevin Marsh, Malcolm E. Molyneux, Terrie E. Taylor, Kirk A. Rockett, Dominic Kwiatkowski

    Publicado em 2007
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  8. 8
    Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

    Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy por Andrew E. Fry, Christopher Marra, Anna V. Derrick, William Owen Pickrell, Adam T. Higgins, Johann te Water Naudé, Martin A. McClatchey, Sally Davies, Kay Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren Brady, Ronit Mesterman, Mark A. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, Mark I. Rees, Mitchell Goldfarb, Seo‐Kyung Chung

    Publicado em 2020
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  9. 9
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine por Víctor Faúndes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith D. Ranells, Miranda Splitt, Laura Cross, Carol Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    Publicado em 2021
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  10. 10
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development por Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    Publicado em 2020
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  11. 11
    Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes

    Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes por Andrew E. Fry, Anita Ghansa, Kerrin S. Small, A. Palma, Sarah Auburn, Mahamadou Diakité, Angela Green, Susana Campino, Yik Ying Teo, Taane G. Clark, Anna E. Jeffreys, Jonathan P. Wilson, Muminatou Jallow, Fatou Sisay-Joof, Margaret Pinder, Michael J. Griffiths, Norbert Peshu, Thomas N. Williams, Charles R. Newton, Kevin Marsh, Malcolm E. Molyneux, Terrie E. Taylor, Kwadwo A. Koram, Abraham Oduro, William O. Rogers, Kirk A. Rockett, Pardis C. Sabeti, Dominic Kwiatkowski

    Publicado em 2009
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  12. 12
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders por Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Publicado em 2022
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  13. 13
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation por Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    Publicado em 2020
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  14. 14
    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome por Ghayda Mirzaa, David Parry, Andrew E. Fry, Kristin A. Giamanco, Jeremy Schwartzentruber, Megan R. Vanstone, Clare V. Logan, Nicola Roberts, Colin A. Johnson, Shawn Singh, Stanislav S. Kholmanskikh, Carissa Adams, Rebecca D. Hodge, Robert F. Hevner, David T. Bonthron, Kees P. J. Braun, Laurence Faivre, Jean‐Baptiste Rivière, Judith St‐Onge, Karen W. Gripp, Grazia M.S. Mancini, Ki Pang, Elizabeth Sweeney, Hilde Van Esch, Nienke E. Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M. Boycott, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn Sheridan

    Publicado em 2014
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  15. 15
    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome por Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns

    Publicado em 2012
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  16. 16
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing por Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Publicado em 2017
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  17. 17
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 por Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Publicado em 2021
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  18. 18
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria por Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Publicado em 2017
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  19. 19
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum por Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    Publicado em 2011
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  20. 20
    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities por Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü, Marco Post, Nadia Bahi‐Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen‐Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G. J. Nikkels, Aida M. Bertoli‐Avella, Amal Al Hashem, Abdulmalik A. Alwabel, K. Tlili-Graiess, Stéphanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier G. Mastroberardino, Grazia M.S. Mancini

    Publicado em 2019
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