Zobrazeno 1 - 10
of 171
pro vyhledávání: '"Jacqueline A. Noonan"'
Autor:
Jacqueline A. Noonan, Krishna S. Vyas
Publikováno v:
jcvm. 1:1-5
The RASopathies are a class of developmental disorders caused by a genetic mutation in the Ras signaling pathway and asso ciated mitogen-activated protein kinases that control the cell cycle, differentiation and senescence. These diseases encompass a
Publikováno v:
Hormone Research in Paediatrics. 83:157-166
Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS),
Autor:
Jacqueline A. Noonan, John L. Colquitt
Publikováno v:
Congenital Heart Disease. 9:144-150
Objective Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac abnormalities, including, most notably, pulmonary stenosis (PS) and hypertrophic cardiomyopathy (HCM). Little is known about the natural history of hear
Autor:
Tiffany J. Riehle‐Colarusso, Lisa Bergersen, Craig S. Broberg, Cynthia H. Cassell, Darryl T. Gray, Scott D. Grosse, Jeffrey P. Jacobs, Marshall L. Jacobs, Russell S. Kirby, Lazaros Kochilas, Asha Krishnaswamy, Arianne Marelli, Sara K. Pasquali, Thalia Wood, Matthew E. Oster, Ginnie Lee Abarbanell, Faith Adams, Steven W. Allen, Sydney Allen, Anand Ambrose, Carl Lewis Backer, Andrea Baer, Carissa Marie Baker‐Smith, Mona Barmash, Amy Basken, Cassandra Bates, Sarosh Percy Batlivala, Robert H. Beekman, John William Belmont, Joshua Benke, Stuart Berger, JR Bockerstette, Jeffrey R. Boris, Lorenzo Botto, Jackie Boucher, Dana Brock Hageman, Cheryl Brosig Soto, Kristin Marie Burns, Lenore Cameron, Robert M. Campbell, Steven E. Colan, Lynn Colegrove, Christina Coleman, Angie Colson, Adolfo Correa, Pamela Costa, Chris Couser, Melissa Lynnn Crenshaw, Tessa Crume, Rachel Daskalov, Mark D. Del Monte, Lindsay DeSantis, Kaitlin Doherty, Kenneth Dooley, Charles (Wes) Duke, Pirooz Eghtesady, Saiza Elayda, Alison Ellison, Tim Elsner, Cori Erntz, Michelle Z. Esquivel, Bethany Evans, Lloyd Robert Feit, Marcia Feldkamp, William Foley, Elyse Foster, Wayne Franklin, Bridget Freeley, Frank M. Galioto, Mary George, Michael H. Gewitz, Katja Michelle Gist, Thomas Glenn, Melissa (Jill) Glidewell, Lorraine A. Gore, Johanna Gray, Hannah Green, Michelle Z. Gurvitz, Sonia Handa, Melissa Harvey, Emilie Heath, Danielle Hile, John Smith Hokanson, Margaret (Peggy) Honein, Marius M. Hubbell, Jeff Hudson, Kelly Huhn, Dawn Ilardi, Dawn C. Jacobs, Robert Douglas Benjamin Jaquiss, Kathy J. Jenkins, Anitha John, Patrick Johnson, Shakila Johnson, Emily Jones, Antonios P. Jossif, Jonathan Ross Kaltman, David Kasnic, Alex R. Kemper, Natalie Kenny, Paul Khairy, Valerie King, Donna Knapp, Daisuke Kobayashi, Adrienne Kovacs, James Kucik, Karen S. Kuehl, Alexandra Kuznetsov, Scott Leezer, Jodi Lemacks, Patty Libby, Paul H. Lipkin, Michele Ann Lloyd‐Puryear, Keila Natilde Lopez, Nicolas L. Madsen, Cara Mai, Monica Mann, Bradley Marino, Gerard Robert Martin, G. Paul Matherne, Phillip Mauller, Susan May, Edward R. B. McCabe, Nancy McCabe, Michelle McCardle, Ty McCathran, Amy McCathran, Michael E. McConnell, Kristine Brite McCormick, Eric Melsom, William Kelly Milionis, Paula Miller, Erika Miller, Stephanie Mitchell, Cynthia A. Moore, Laura Morris, Angela Murray, Kathleen Mussatto, Steven R. Neish, Sue Nelson, Jane W. Newburger, Jeremy Nicolarsen, Autumn Niggles, Jacqueline Anne Noonan, Gail Ober, Lori O'Keefe, Marc Overcash, Jennifer Page, Matthew Vaughn Park, Mehul D. Patel, Jasmin Patel, Gail Denise Pearson, Cindy Pellegrini, Corrie Pierce, Nelangi M. Pinto, Kara Polen, Jose Alcides Quinones, Carol Raimondi, Pat Richter, Michelle Rintamaki, Elisa Robles, Geoffrey L. Rosenthal, Grahame Rush, Laura Russell, Annamarie Saarinen, Craig Andrew Sable, Joel Saltz, Terri Schaefer, Kathryn Schubert, Vida Schwartz, Stuart K. Shapira, Kathleen Sheehan, Brenda Silverman, Regina Simeone, Juanita Smith, Kimberly E. Smith, Kristina Smith, Marci Sontag, Shubhika Srivastava, Corrie Stassen, Corey Stiver, Kathryn Taubert, Judy Thibadeau, John P. Thomas, Dena Thomas, Vivian Baldassari Thorne, Linda Tiernan, Susan Timmins, Colby Tiner, Natalie Torentinos, Glenn Tringali, James S. Tweddell, Lisa M. Vasquez, Amy Verstappen, Janice Ware, Caron Watkins, Catherine L. Webb, Ellen Weiss, Marina Weiss, Gil Wernovsky, Gretchen Whitehurst, Herbert Whitley, Jennifer Witten, Austin Henry Wong, Matthew Wright, Robert Wynbrant, Bistra Zheleva
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
In a 2012 meeting at the Centers for Disease Control and Prevention (CDC), key experts and stakeholders identified public health knowledge gaps about congenital heart defects (CHDs), namely prevalence of CHDs across the life span, long‐term outcome
Autor:
Jacqueline A. Noonan, Clifford M. Takemoto, Wanda Robinson, Judith Allanson, Alicia A Romano, Bruce D. Gelb, Jovanna Dahlgren, Mary Ella M Pierpont, Bryan D. Hall, Amy E. Roberts
Publikováno v:
Pediatrics. 126:746-759
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individ
Publikováno v:
Congenital Heart Disease. 3:443-448
This is a report of a child who died at 20 months from what was clinically thought to be cardiomyopathy of unknown etiology. Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrom
Autor:
Judith Allanson, Klaudiusz Luczak, Hans Gerd Kehl, Gabriele Krüger, Marco Tartaglia, Martin Zenker, Thomas Neumann, Beate Albrecht, Hartmut Peters, Rohan Laurie, Kate Gibson, Vera M. Kalscheuer, Giovanni Neri, Viviana Cordeddu, Luciana Musante, Timm O. Goecke, Andreas Tzschach, Maria Hoeltzenbein, Bronwyn Kerr, Ines Kavamura, Maria M. Sasiadek, Jacqueline A. Noonan
Publikováno v:
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
German Research Foundation (DFG) Telethon-Italy Associazione ONLUS Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling
Autor:
Elizabeth Goldmuntz, Deborah A. McDermott, Elaine H. Zackai, Catherine Nowak, Barbara R. Pober, Colleen A. Morris, Pilar L. Magoulas, Elspeth McPherson, Jacqueline A. Noonan, Angela E. Lin, Reed E. Pyeritz, Donna M. McDonald-McGinn, Craig T. Basson, Mary Ella M Pierpont, Alan F. Rope
Publikováno v:
Genetics in Medicine. 10:469-494
Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital hear
Autor:
Jacqueline A. Noonan
Publikováno v:
Progress in Pediatric Cardiology. 20:177-185
Noonan syndrome is a common multiple malformation syndrome seen in children with congenital heart disease. Recently, a mutation in the PTPN11 gene was found to be present in about 50% of individuals with Noonan syndrome. Over 80% of these patients ha
Autor:
Jacqueline A. Noonan
Publikováno v:
Pediatric Research. 56:298-306
Pediatric cardiology, as a discipline, arose from early descriptive studies of congenital cardiac defects. The development of the stethoscope allowed some clinical diagnoses to be made during life. Cardiology as a medical specialty was limited, mainl