Resultats de la cerca - Ghayda Mirzaa

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  1. 1
    From microcephaly to megalencephaly: determinants of brain size

    From microcephaly to megalencephaly: determinants of brain size per Filomena Pirozzi, Branden R. Nelson, Ghayda Mirzaa

    Publicat 2018
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  2. 2
    Lissencephaly: Expanded imaging and clinical classification

    Lissencephaly: Expanded imaging and clinical classification per Nataliya Di Donato, Sara Chiari, Ghayda Mirzaa, Kimberly A. Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini, William B. Dobyns

    Publicat 2017
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  3. 3
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy per Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    Publicat 2018
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  4. 4
    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism per Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter, I Abramowiçz, Joseph G. Gleeson, Alex R. Paciorkowski, Don W. Cleveland, William B. Dobyns, Mark O’Driscoll

    Publicat 2014
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  5. 5
    PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia

    PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia per Wenying Angela Liu, She Chen, Zhizhong Li, Choong H. Lee, Ghayda Mirzaa, William B. Dobyns, M. Elizabeth Ross, Jiangyang Zhang, Song-Hai Shi

    Publicat 2018
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  6. 6
    Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

    Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations per Kaitlyn Zenner, Dana M. Jensen, Tori T. Cook, Victoria Dmyterko, Randall A. Bly, Sheila Ganti, Ghayda Mirzaa, William B. Dobyns, Jonathan A. Perkins, James T. Bennett

    Publicat 2020
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  7. 7
    Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

    Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... per Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman‐Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns

    Publicat 2012
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  8. 8
    Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature

    Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature per Ghayda Mirzaa, Laura B. Enyedi, Gretchen Parsons, Sarah Collins, Līvija Medne, Carissa Adams, Thomas Ward, Bradley V. Davitt, Alma R. Bicknese, Elaine H. Zackai, Helga V. Toriello, William B. Dobyns, Susan L. Christian

    Publicat 2014
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  9. 9
    CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

    CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy per Ghayda Mirzaa, Alex R. Paciorkowski, Eric D. Marsh, Elizabeth Berry‐Kravis, Līvija Medne, Art Grix, Elaine Wirrell, Berkley R. Powell, Katherine Nickels, Barbara K. Burton, Andrea Paras, Katherine Kim, Wendy K. Chung, William B. Dobyns, Soma Das

    Publicat 2013
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  10. 10
    Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation

    Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation per Karen W. Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A. Napoli, Gregory C. Griffin, Mihir M. Thacker, Rachel Knox, Graeme R. Clark, Victoria E R Parker, Robert K. Semple, Ghayda Mirzaa, Kim M. Keppler‐Noreuil

    Publicat 2016
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  11. 11
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia per Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns

    Publicat 2015
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  12. 12
    Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

    Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly per Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R. Arenkiel, Priya S. Shah, Nevan J. Krogan, Hatip Aydın, Bilgen Bilge Geçkinli, Tülay Tos, Sedat Işıkay, Beyhan Tüysüz, Ganeshwaran H. Mochida, Ajay X. Thomas, Robin D. Clark, Ghayda Mirzaa, James R. Lupski, Hugo J. Bellen

    Publicat 2019
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  13. 13
    Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

    Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2 per William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica A. Roseberry, Gary Clark, Cynthia J. Curry, Donna M. McDonald‐McGinn, Līvija Medne, Elaine H. Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Alastair J. Martin, Marzena Gajęcka, Lisa G. Shaffer

    Publicat 2008
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  14. 14
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly per Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Publicat 2018
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  15. 15
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures per Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    Publicat 2019
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  16. 16
    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement

    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement per Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker

    Publicat 2021
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  17. 17
    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria per Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry, Karl Martin Klein, David A. Dyment, Courtney Thaxton, Bekim Sadiković, Tristan T. Sands, Jacy L. Wagnon, Khalida Liaquat, Maria Roberta Cilio, Ghayda Mirzaa, Kristen Park, Erika Axeen, Elizabeth Butler, Tanya Bardakjian, Pasquale Striano, Annapurna Poduri, Rebecca K. Siegert, Andrew R. Grant, Katherine L. Helbig, Heather C. Mefford

    Publicat 2018
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  18. 18
    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care per Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward J. Novotny, Jason N. Wright, Russell P. Saneto, Seth D. Friedman, Jason S. Hauptman, Jeffrey G. Ojemann, Raj P. Kapur, Ghayda Mirzaa

    Publicat 2021
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  19. 19
    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 per 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

    Publicat 2020
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  20. 20
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study per Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    Publicat 2015
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