खोज परिणाम - Mary Ella Pierpont

परिणाम को परिष्कृत करें
  1. 1
    Genotype differences in cognitive functioning in Noonan syndrome

    Genotype differences in cognitive functioning in Noonan syndrome द्वारा Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog‐Dube, Mark S. Seidenberg

    प्रकाशित 2008
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  2. 2
    Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation

    Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation द्वारा Feng Zhao, Constance G. Weismann, Masahiko Satoda, Mary Ella Pierpont, Elizabeth Sweeney, Elizabeth M. Thompson, Bruce D. Gelb

    प्रकाशित 2001
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  3. 3
    Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

    Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome द्वारा Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog‐Dube, Katherine A. Rauen, Mark S. Seidenberg

    प्रकाशित 2010
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  4. 4
    Reliability of carnitine concentrations measured in single postprandial urine samples from dogs

    Reliability of carnitine concentrations measured in single postprandial urine samples from dogs द्वारा S. Laurie Sanderson, Carl A. Osborne, Jody P. Lulich, Mary Ella Pierpont, Kathy L. Gross, Phillip N. Ogburn, Lori A. Koehler, Marileda Bonafim Carvalho

    प्रकाशित 1996
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  5. 5
    Raine Syndrome (OMIM #259775), Caused By <i>FAM20C</i> Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

    Raine Syndrome (OMIM #259775), Caused By <i>FAM20C</i> Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660) द्वारा Michael P. Whyte, William H. McAlister, Michael D. Fallon, Mary Ella Pierpont, Vinieth N. Bijanki, Shenghui Duan, Ghada A. Otaify, William S. Sly, Steven Mumm

    प्रकाशित 2016
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  6. 6
    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 द्वारा 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

    प्रकाशित 2007
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  7. 7
    Genetic Basis for Congenital Heart Defects: Current Knowledge

    Genetic Basis for Congenital Heart Defects: Current Knowledge द्वारा Mary Ella Pierpont, Craig T. Basson, D. Woodrow Benson, Bruce D. Gelb, Therese M. Giglia, Elizabeth Goldmuntz, Glenn McGee, Craig Sable, Deepak Srivastava, Catherine L. Webb

    प्रकाशित 2007
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    Revisão
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  8. 8
    Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

    Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 द्वारा Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. H. Foy, Margaret Semrud‐Clikeman, Mary Ella Pierpont, Susan A. Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer, Christopher L. Moertel

    प्रकाशित 2018
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  9. 9
    Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

    Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association द्वारा Mary Ella Pierpont, Martina Brueckner, Wendy K. Chung, Vidu Garg, Ronald V. Lacro, Amy L. McGuire, Seema Mital, James R. Priest, William T. Pu, Amy E. Roberts, Stephanie M. Ware, Bruce D. Gelb, Mark W. Russell

    प्रकाशित 2018
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  10. 10
    Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

    Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pat... द्वारा Xiao-Ping Zhou, Kristin Waite, Robert Pilarski, Heather Hampel, Magali Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich, Ellen Matloff, Annette R. Patterson, Mary Ella Pierpont, Donna Russo, Najah T. Nassif, Charis Eng

    प्रकाशित 2003
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  11. 11
    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines द्वारा Mary Ella Pierpont, Pilar Magoulas, Saleh Adi, Maria Inês Kavamura, Giovanni Neri, Jacqueline A. Noonan, Elizabeth I. Pierpont, Kent A. Reinker, Amy E. Roberts, Suma P. Shankar, Joseph Sullivan, Melinda Wolford, Brenda A. Conger, Molly Santa Cruz, Katherine A. Rauen

    प्रकाशित 2014
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    Revisão
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  12. 12
    Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

    Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management द्वारा Angela E. Lin, Craig T. Basson, Elizabeth Goldmuntz, Pilar Magoulas, Deborah A. McDermott, Donna M. McDonald‐McGinn, Elspeth McPherson, Colleen A. Morris, Jacqueline A. Noonan, C. Nowak, Mary Ella Pierpont, Reed E. Pyeritz, Alan F. Rope, Elaine H. Zackai, Barbara R. Pober

    प्रकाशित 2008
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  13. 13
    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly द्वारा Luisa Nanni, Jeffrey E. Ming, Maureen Bocian, Kathryn A. Steinhaus, Diana W. Bianchi, Christine de Die‐Smulders, Aldo Giannotti, K Imaizumi, Kenneth Lyons Jones, Miguel Del Campo, R. A. Martin, P. Meinecke, Mary Ella Pierpont, Nathaniel H. Robin, I.D. Young, Erich Roessler, Maximilian Muenke

    प्रकाशित 1999
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  14. 14
    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome

    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome द्वारा Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch‐Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Haskins Olney, Mary Ella Pierpont, G. Bradley Schaefer, Fiona Stewart, A.S. Paul van Trotsenburg, Eric Fliers, John W. R. Schwabe, Raoul C. M. Hennekam

    प्रकाशित 2016
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  15. 15
    Different <i>TBX5</i> interactions in heart and limb defined by Holt–Oram syndrome mutations

    Different <i>TBX5</i> interactions in heart and limb defined by Holt–Oram syndrome mutations द्वारा Craig T. Basson, Taosheng Huang, Robert C. Lin, David R. Bachinsky, Stanislawa Weremowicz, Alicia Vaglio, Rina Bruzzone, Roberto Quadrelli, Margherita Lerone, Giovanni Romeo, Margherita Silengo, Alexandre C. Pereira, José Eduardo Krieger, Sonia F. Mesquita, Mitsuhiro Kamisago, Cynthia C. Morton, Mary Ella Pierpont, Christoph W. Müller, Jonathan G. Seidman, Christine E. Seidman

    प्रकाशित 1999
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  16. 16
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome द्वारा 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

    प्रकाशित 2005
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  17. 17
    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe... द्वारा Meena Upadhyaya, Susan Huson, D. M. Davies, N S Thomas, Nadia Chuzhanova, Sara Giovannini, D. Gareth Evans, Elizabeth Howard, Bronwyn Kerr, S. W. Griffiths, Claudia Consoli, Lucy Side, Darius J. Adams, Mary Ella Pierpont, Rachel K. Hachen, Angela Barnicoat, H. Li, P L Wallace, J.P. Van Biervliet, David A. Stevenson, David Viskochil, Diana Baralle, Eric Haan, Vincent M. Riccardi, Peter D. Turnpenny, Conxi Lázaro, Ludwine Messiaen

    प्रकाशित 2006
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  18. 18
    Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

    Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy द्वारा Ronald V. Lacro, Lin T. Guey, Harry C. Dietz, Gail D. Pearson, Anji T. Yetman, Bruce D. Gelb, Bart Loeys, D. Woodrow Benson, Timothy J. Bradley, Julie De Backer, Geoffrey A. Forbus, Gloria L. Klein, Wyman W. Lai, Jami C. Levine, Mark Lewin, Larry W. Markham, Stephen M. Paridon, Mary Ella Pierpont, Elizabeth Radojewski, Elif Seda Selamet Tierney, Angela M. Sharkey, Stephanie Burns Wechsler, Lynn Mahony

    प्रकाशित 2013
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  19. 19
    Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

    Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome द्वारा Ronald V. Lacro, Harry C. Dietz, Lynn A. Sleeper, Anji T. Yetman, Timothy J. Bradley, Steven D. Colan, Gail D. Pearson, Elif Seda Selamet Tierney, Jami C. Levine, Andrew M. Atz, D. Woodrow Benson, Alan C. Braverman, Shan Chen, Julie De Backer, Bruce D. Gelb, Paul Grossfeld, Gloria L. Klein, Wyman W. Lai, Aimée Liou, Bart Loeys, Larry W. Markham, Aaron K. Olson, Stephen M. Paridon, Victoria L. Pemberton, Mary Ella Pierpont, Reed E. Pyeritz, Elizabeth Radojewski, Mary J. Roman, Angela M. Sharkey, Mario Stylianou, Stephanie Burns Wechsler, Luciana Young, Lynn Mahony

    प्रकाशित 2014
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  20. 20
    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes द्वारा Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorský, Francesca Romana Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence E. Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha A. Schrier Vergano, Katherine G. Langley, Douglas P. Larsen, Kelly D. Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay B. Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza‐Londono, Lucie Dupuis, Deborah A. Nickerson, Jessica X. Chong, Naomi Meeks, Kathleen Brown, Tahnee N. Causey, Megan T. Cho, Stephanie Demuth, M. Cristina Digilio, Bruce D. Gelb, Michael J. Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C. M. Hennekam, Marco Tartaglia, Ghayda Mirzaa

    प्रकाशित 2018
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