Результати пошуку - David W. Stockton

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  1. 1
    Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

    Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease за авторством Róbert Královics, David W. Stockton, Josef T. Prchal

    Опубліковано 2003
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  2. 2
    The Fibroblast Growth Factor Receptor-4 Arg388 Allele Is Associated with Prostate Cancer Initiation and Progression

    The Fibroblast Growth Factor Receptor-4 Arg388 Allele Is Associated with Prostate Cancer Initiation and Progression за авторством Jianghua Wang, David W. Stockton, Michael Ittmann

    Опубліковано 2004
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  3. 3
    Parental occupation at periconception: findings from the United Kingdom Childhood Cancer Study

    Parental occupation at periconception: findings from the United Kingdom Childhood Cancer Study за авторством P A McKinney, Nicola T. Fear, David W. Stockton

    Опубліковано 2003
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  4. 4
    Endemic Polycythemia in Russia: Mutation in the VHL Gene

    Endemic Polycythemia in Russia: Mutation in the VHL Gene за авторством Sonny Ang, Hua Chen, Victor R. Gordeuk, Adelina Sergueeva, Lydia A. Polyakova, Galina Miasnikova, Róbert Královics, David W. Stockton, Josef T. Prchal

    Опубліковано 2002
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  5. 5
    Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

    Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 за авторством Erica R. Eichers, Jane S. Green, David W. Stockton, Christopher S. Jackman, James Whelan, J. Arch McNamara, Joanne Katz, James R. Lupski, Nicholas Katsanis

    Опубліковано 2002
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  6. 6
    Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

    Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management за авторством Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra Day‐Salvatore, Paige Kaplan, Nancy D. Leslie, C. Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer

    Опубліковано 2016
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  7. 7
    Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

    Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment star... за авторством David W. Stockton, Priya S. Kishnani, Ans van der Ploeg, Juan Clinton Llerena, Matthias Boentert, Mark Roberts, Barry J. Byrne, Roberto Araujo, Sonia S. Maruti, Nathan Thibault, Karien Verhulst, Kenneth I. Berger

    Опубліковано 2020
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  8. 8
    P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry

    P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry за авторством Priya S. Kishnani, David W. Stockton, Andreas Hahn, Juan Clinton Llerena, Alexander Broomfield, Julie L. Batista, Meredith C. Foster, Kathryn M. Wilson, Susan Sparks, Hannerieke van den Hout, Yin‐Hsiu Chien

    Опубліковано 2024
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  9. 9
    An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

    An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions за авторством Bum‐Joon Kim, Hitisha P. Zaveri, Oleg A. Shchelochkov, Zhiyin Yu, Andrés Hernández, Michelle L. Seymour, John S. Oghalai, Fred A. Pereira, David W. Stockton, Monica J. Justice, Brendan Lee, Daryl A. Scott

    Опубліковано 2013
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  10. 10
    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> за авторством Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz

    Опубліковано 2010
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  11. 11
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity за авторством Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    Опубліковано 2010
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  12. 12
    Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal synthesis due to disruption of the visual cycle

    Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal synthesis due to disruption of the visual cycle за авторством Debra A. Thompson, Andreas Janecke, Jessica Lange, Kecia L. Feathers, Christian A. Hübner, Christina L. McHenry, David W. Stockton, Gabriele Rammesmayer, James R. Lupski, Guillermo Antiñolo, Carmen Ayuso, Montserrat Baiget, Peter Gouras, John R. Heckenlively, Anneke Den Hollander, Samuel G. Jacobson, Richard A. Lewis, Paul A. Sieving, Bernd Wissinger, Suzanne Yzer, Eberhart Zrenner, Gerd Utermann, Andreas Gal

    Опубліковано 2005
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  13. 13
    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants за авторством Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen A. Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis Escobar, Dima El‐Khechen, Kisha Johnson, Robert Roger Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura Martin, Carol L. Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    Опубліковано 2012
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  14. 14
    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome за авторством Keith W. McLarren, Tesa Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A. Rouleau, Karl‐Heinz Grzeschik, Raffaella Smith, Patrick Tarpey, Debbie Shears, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, Laura Arbour, Jane Hurlburt, Margot I. Van Allen, Gail E. Herman, Yongjun Zhao, Richard Moore, Richard I. Kelley, Steven J.M. Jones, Robert D. Steiner, F. Lucy Raymond, Marco A. Marra, Cornelius F. Boerkoel

    Опубліковано 2010
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  15. 15
    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database за авторством Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe Birk Jensen, Pierre Cochat, Stéphane Decramer, Joanne Dixon, Régen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair G. W. Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz‐Amit, Eric A. Pierce, Emily Place, Nancy Rodig, Ann E. Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C. P. Schaafsma, Lawrence R. Shoemaker, David W. Stockton, Wen‐Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael R. Eccles, Lisa A. Schimmenti, Laurence Heidet

    Опубліковано 2011
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  16. 16
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 за авторством Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    Опубліковано 2017
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  17. 17
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... за авторством Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Опубліковано 2019
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