Výsledky vyhledávání - Jeffrey W. Innis

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  1. 1
    Human HOX gene disorders

    Human HOX gene disorders Autor Shane C. Quinonez, Jeffrey W. Innis

    Vydáno 2013
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  2. 2
    Of fingers, toes and penises

    Of fingers, toes and penises Autor Takashi Kondo, József Zákány, Jeffrey W. Innis, Denis Duboule

    Vydáno 1997
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    Carta
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  3. 3
    Compound heterozygosity for loss-of-function <i>FARSB</i> variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

    Compound heterozygosity for loss-of-function <i>FARSB</i> variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease Autor Anthony Antonellis, Stephanie N. Oprescu, Laurie B. Griffin, Amer Heider, Andrea Amalfitano, Jeffrey W. Innis

    Vydáno 2018
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  4. 4
    Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

    Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations Autor Mark W. Russell, Maide Ö. Raeker, Sarah Geisler, Peedikayil E. Thomas, Tracy Simmons, John Bernat, Thor Thorsson, Jeffrey W. Innis

    Vydáno 2014
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  5. 5
    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis Autor Pawaree Saisawat, Velibor Tasić, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt

    Vydáno 2011
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  6. 6
    Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

    Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes Autor Kacie N. Riley, Lisa M. Catalano, John Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis, M. Katharine Rudd

    Vydáno 2015
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  7. 7
    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia Autor William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniëls, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs

    Vydáno 2003
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  8. 8
    BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

    BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome Autor Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Omar Abdul‐Rahman, Jeffrey W. Innis, Beth A. Kozel, Adele Schneider, Tanya Bardakjian, Edward J. Lose, Donna M. Martin, Ulrich Broeckel, Elena V. Semina

    Vydáno 2011
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  9. 9
    Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

    Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome Autor Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise Brueton, Jean‐Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C. M. Hennekam, Peter Scambler

    Vydáno 2000
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  10. 10
    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism Autor Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    Vydáno 2015
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  11. 11
    Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort

    Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort Autor Nevin Ajluni, Rasimcan Meral, Adam Neidert, Graham F. Brady, Eric D. Buras, Barbara J. McKenna, Frank DiPaola, Thomas L. Chenevert, Jeffrey F. Horowitz, Colleen Buggs‐Saxton, Amit Rupani, Peedikayil E. Thomas, Marwan K. Tayeh, Jeffrey W. Innis, M. Bishr Omary, Hari S. Conjeevaram, Elif A Oral

    Vydáno 2017
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  12. 12
    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome Autor Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E. Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun‐yi Zhu, Julia Hoefele, Lutz T. Weber, Ľudmila Podracká, A Böör, Henry Fehrenbach, Jeffrey W. Innis, Joseph Washburn, Shawn Levy, Richard P. Lifton, Edgar A. Otto, Zhe Han, Friedhelm Hildebrandt

    Vydáno 2015
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  13. 13
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome Autor Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Fiona J. Gilbert, Gail E. Graham, Mark C. Hannibal, Jeffrey W. Innis, Mary Ella Pierpont, Annick Raas‐Rothschild, Alan Shanske, Wendy E. Smith, Robert H. Spencer, Martin G. St. John-Sutton, Lionel Van Maldergem, Darrel Waggoner, Matthew P. Weber, Craig T. Basson

    Vydáno 2005
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  14. 14
    A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome

    A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome Autor Elizabeth Berry‐Kravis, Joseph P. Horrigan, Nicole Tartaglia, Randi J. Hagerman, Alexander Kolevzon, Craig A. Erickson, Shivkumar Hatti, Mike Snape, Alex Yaroshinsky, George Stoms, Larry Glass, Nancy E. Jones, Kevin Sanders, Jean A. Frazier, Thomas D. Challman, Jeffrey W. Innis, Bryan King, Joseph F. Cubells, Jeannie Visootsak, Steven A. Skinner, Dianne Treadwell-Deering, Sherry Vinson, Howard Needelman

    Vydáno 2020
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  15. 15
    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome Autor François Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

    Vydáno 2012
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  16. 16
    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation Autor Iram Hussain, Nivedita Patni, Masako Ueda, Ekaterina Sorkina, Cynthia Melissa Valério, Elaine Cochran, Rebecca J. Brown, Joseph Peeden, Yulia V. Tikhonovich, Anatoly Tiulpakov, Sarah Stender, Elisabeth Klouda, Marwan K. Tayeh, Jeffrey W. Innis, Anders R.L. Meyer, Priti Lal, Amélio F. Godoy‐Matos, Milena Gurgel Teles, Beverley Adams‐Huet, Daniel J. Rader, Robert A. Hegele, Elif A Oral, Abhimanyu Garg

    Vydáno 2017
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  17. 17
    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling Autor Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W. Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B. Beck, Olivier Gribouval, Weibin Zhou, Katrina A. Diaz, S. Natarajan, Roger C. Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S. Schoeb, Buğsu Övünç, Yaacov Frishberg, Neveen A. Soliman, Hanan Fathy, Heike Goebel, Julia Hoefele, Lutz T. Weber, Jeffrey W. Innis, Christian Faul, Zhe Han, Joseph Washburn, Corinne Antignac, Shawn Levy, Edgar A. Otto, Friedhelm Hildebrandt

    Vydáno 2013
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  18. 18
    Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study

    Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study Autor Sameek Roychowdhury, Matthew K. Iyer, Dan R. Robinson, Robert J. Lonigro, Yi-Mi Wu, Xuhong Cao, Shanker Kalyana‐Sundaram, Lee Sam, O. Alejandro Balbin, Michael J. Quist, Terrence R. Barrette, Jessica N. Everett, Javed Siddiqui, Lakshmi P. Kunju, Nora M. Navone, John C. Araujo, Patricia Troncoso, Christopher J. Logothetis, Jeffrey W. Innis, David C. Smith, Christopher D. Lao, Scott Y. H. Kim, J. Scott Roberts, Stephen B. Gruber, Kenneth J. Pienta, Moshe Talpaz, Arul M. Chinnaiyan

    Vydáno 2011
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  19. 19
    Integrative clinical genomics of metastatic cancer

    Integrative clinical genomics of metastatic cancer Autor Dan R. Robinson, Yi-Mi Wu, Robert J. Lonigro, Pankaj Vats, Erin F. Cobain, Jessica N. Everett, Xuhong Cao, Erica Rabban, Chandan Kumar‐Sinha, Victoria M. Raymond, Scott M. Schuetze, Ajjai Alva, Javed Siddiqui, Rashmi Chugh, Francis P. Worden, Mark M. Zalupski, Jeffrey W. Innis, Rajen Mody, Scott A. Tomlins, David R. Lucas, Laurence H. Baker, Nithya Ramnath, Ann F. Schott, Daniel F. Hayes, Joseph Vijai, Kenneth Offit, Elena M. Stoffel, J. Scott Roberts, David C. Smith, Lakshmi P. Kunju, Moshe Talpaz, Marcin Cieślik, Arul M. Chinnaiyan

    Vydáno 2017
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  20. 20
    Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth

    Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth Autor Rajen Mody, Yi-Mi Wu, Robert J. Lonigro, Xuhong Cao, Sameek Roychowdhury, Pankaj Vats, Kevin Frank, John R. Prensner, Irfan A. Asangani, Nallasivam Palanisamy, Jonathan R. Dillman, Raja Rabah, Laxmi Priya Kunju, Jessica N. Everett, Victoria M. Raymond, Ning Yu, Fengyun Su, Rui Wang, Elena M. Stoffel, Jeffrey W. Innis, J. Scott Roberts, Patricia L. Robertson, Gregory A. Yanik, Aghiad Chamdin, James A. Connelly, Sung Won Choi, Andrew C. Harris, Carrie L. Kitko, Rama Jasty Rao, John E. Levine, Valerie P. Castle, Raymond J. Hutchinson, Moshe Talpaz, Dan R. Robinson, Arul M. Chinnaiyan

    Vydáno 2015
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