Výsledky vyhledávání - Sulagna C. Saitta

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  1. 1
    From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

    From microscopes to microarrays: dissecting recurrent chromosomal rearrangements Autor Beverly S. Emanuel, Sulagna C. Saitta

    Vydáno 2007
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  2. 2
    MAP'ing CNS Development and Cognition: An ERKsome Process

    MAP'ing CNS Development and Cognition: An ERKsome Process Autor Ivy S. Samuels, Sulagna C. Saitta, Gary E. Landreth

    Vydáno 2009
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  3. 3
    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms Autor Tamim H. Shaikh, Ronald J. O’Connor, Mary Ella Pierpont, James McGrath, April M. Hacker, Manjunath Nimmakayalu, Elizabeth A. Geiger, Beverly S. Emanuel, Sulagna C. Saitta

    Vydáno 2007
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  4. 4
    A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

    A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants Autor Jianling Ji, Li Shen, Moiz Bootwalla, Catherine Quindipan, Tatiana V. Tatarinova, Dennis T. Maglinte, Jonathan D. Buckley, Gordana Raca, Sulagna C. Saitta, Jaclyn A. Biegel, Xiaowu Gai

    Vydáno 2019
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  5. 5
    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome Autor Lisa G. Shaffer, Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie McDonald, Jay W. Ellison, Dana Kostiner, Sulagna C. Saitta, Tamim H. Shaikh

    Vydáno 2007
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  6. 6
    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated Autor Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot, Donna M. McDonald‐McGinn, D.A. Driscoll, Ronny Derks, Kimberley Dickinson, Wilhelmina S. Kerstjens‐Frederikse, Beverly S. Emanuel, Elaine H. Zackai, Conny M.A. van Ravenswaaij‐Arts

    Vydáno 2013
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  7. 7
    Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

    Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion Autor Sulagna C. Saitta, Stacy E. Harris, Ann P. Gaeth, Deborah A. Driscoll, Donna M. McDonald‐McGinn, Melissa K. Maisenbacher, Jill Yersak, Prabir K. Chakraborty, April M. Hacker, Elaine H. Zackai, Terry Ashley, Beverly S. Emanuel

    Vydáno 2003
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  8. 8
    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing Autor Elaine Chen, Flavia M. Facio, Kerry Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna C. Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi‐Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya

    Vydáno 2023
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  9. 9
    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis Autor Fanny Kortüm, Soma Das, M. Flindt, Deborah J. Morris‐Rosendahl, Iliyana Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, A. Roumer, Sulagna C. Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanık, Kerstin Kutsche, William B. Dobyns

    Vydáno 2011
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  10. 10
    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects Autor Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung

    Vydáno 2016
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  11. 11
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination Autor Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna C. Saitta, Jennifer L. Murphy, Quasar Saleem Padiath, Yi Xie, Hákon Hákonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

    Vydáno 2014
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  12. 12
    Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

    Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development Autor Jason M. Newbern, Jian Zhong, Rasika S. Wickramasinghe, Xiaoyan Li, Yaohong Wu, Ivy S. Samuels, Natalie A. Cherosky, J. Colleen Karlo, Brianne O'Loughlin, Jamie C. Wikenheiser, Madhusudhana Gargesha, Yong Qiu Doughman, Jean Charron, David D. Ginty, Michiko Watanabe, Sulagna C. Saitta, William D. Snider, Gary E. Landreth

    Vydáno 2008
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  13. 13
    Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

    Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy Autor Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi‐Moab, Surabhi Mulchandani, Sulagna C. Saitta, Lisa J. States, Daniel T. Swarr, Alisha Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew Palladino, Nancy B. Spinner, Matthew A. Deardorff

    Vydáno 2013
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  14. 14
    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients Autor Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez‐Lara, Merlin G. Butler, Elaine H. Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph T.C. Shieh, John B. Moeschler, Barbara F. Crandall, Julie Lauzon, David Viskochil, Brian Harding, John M. Graham

    Vydáno 2007
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  15. 15
    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 Autor 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

    Vydáno 2021
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  16. 16
    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region Autor Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai, Kate Shane-Carson, Joan Atkin, Alexander Asamoah, R. Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi M. Feldman, William Cohen, Judith Phalin, Berkley R. Powell, B. C. Ballif, Aaron Theisen, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Tamim H. Shaikh, Sulagna C. Saitta, B.A. Bejjani, L.G. Shaffer

    Vydáno 2009
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  17. 17
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Autor Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    Vydáno 2015
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  18. 18
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution Autor Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Vydáno 2016
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  19. 19
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Autor Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Vydáno 2014
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