檢索結果 - Kim M. Keppler‐Noreuil

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  1. 1
    Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

    Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review 由 Kim M. Keppler‐Noreuil, Sue Gorton, Florence Foo, Jerome Yankowitz, Catherine E. Keegan

    出版 2007
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  2. 2
    Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

    Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies 由 Kim M. Keppler‐Noreuil, Victoria Parker, Thomas N. Darling, Julián A. Martínez-Agosto

    出版 2016
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  3. 3
    A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

    A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations 由 Guillaume Canaud, Adrienne M. Hammill, Denise M. Adams, Miikka Vikkula, Kim M. Keppler‐Noreuil

    出版 2021
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  4. 4
    Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway

    Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway 由 Neera R. Nathan, Kim M. Keppler‐Noreuil, Leslie G. Biesecker, Joel Moss, Thomas N. Darling

    出版 2016
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  5. 5
    <i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    <i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation 由 Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker, Robert K. Semple, Marjorie J. Lindhurst, Julie C. Sapp, Ahmad I. Alomari, Marybeth Ezaki, William B. Dobyns, Leslie G. Biesecker

    出版 2014
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  6. 6
    Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007

    Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007 由 April L. Dawson, Sarah C. Tinker, Denise J. Jamieson, Charlotte A. Hobbs, R. J. Berry, Sonja A. Rasmussen, Marlene Anderka, Kim M. Keppler‐Noreuil, Angela E. Lin, Jennita Reefhuis

    出版 2016
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  7. 7
    A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

    A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome 由 Jennifer J. Johnston, Mónica Sánchez-Contreras, Kim M. Keppler‐Noreuil, Julie C. Sapp, Molly M. Crenshaw, NiCole A. Finch, Valérie Cormier‐Daire, Rosa Rademakers, Virginia P. Sybert, Leslie G. Biesecker

    出版 2015
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  8. 8
    Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

    Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption 由 Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson, Christopher T. Sullivan, Samin A. Sajan, Susan L. Christian, Polina Bukshpun, Stacy Gabriel, Joseph G. Gleeson, Elliott H. Sherr, William B. Dobyns

    出版 2013
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  9. 9
    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome 由 Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya

    出版 2013
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  10. 10
    Clinical features and management issues in Mowat–Wilson syndrome

    Clinical features and management issues in Mowat–Wilson syndrome 由 Margaret P Adam, Susan Schelley, Renata C. Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John M. Graham, Anne Slavotinek, Madelena Martin, Kim M. Keppler‐Noreuil, Andrea L. Storm, Louanne Hudgins

    出版 2006
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  11. 11
    Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

    Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model 由 Calvin S. Carter, Timothy W. Vogel, Qihong Zhang, Seongjin Seo, Ruth E. Swiderski, Thomas O. Moninger, Martin D. Cassell, Daniel R. Thedens, Kim M. Keppler‐Noreuil, Peg Nopoulos, Darryl Nishimura, Charles Searby, Kevin Bugge, Val C. Sheffield

    出版 2012
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  12. 12
    Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation

    Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation 由 Karen W. Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A. Napoli, Gregory C. Griffin, Mihir M. Thacker, Rachel Knox, Graeme R. Clark, Victoria E R Parker, Robert K. Semple, Ghayda Mirzaa, Kim M. Keppler‐Noreuil

    出版 2016
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  13. 13
    Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

    Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome 由 Denise W. Metry, Hillary L. Copp, Kristy L. Rialon, Ionela Iacobas, Eulàlia Baselga, William B. Dobyns, Beth A. Drolet, Ilona J. Frieden, Maria C. Garzón, Anita N. Haggstrom, Darrell S. Hanson, Laura Hollenbach, Kim M. Keppler‐Noreuil, Mohit Maheshwari, Dawn H. Siegel, Shamaila Waseem, Mark S. Dias

    出版 2024
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  14. 14
    Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

    Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome 由 Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Thomas N. Darling, Jasmine Burton‐Akright, Mohammadhadi Bagheri, Eva Dombi, Ashlyn Gruber, Paul Jarosinski, Staci Martin, Neera R. Nathan, Scott M. Paul, Ronald E. Savage, Pamela L. Wolters, Brian Schwartz, Brigitte C. Widemann, Leslie G. Biesecker

    出版 2019
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  15. 15
    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement

    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement 由 Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker

    出版 2021
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  16. 16
    MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

    MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus 由 Fabiola Quintero‐Rivera, Qiongchao Xi, Kim M. Keppler‐Noreuil, Ji Hyun Lee, Anne W. Higgins, Raymond M. Anchan, Amy E. Roberts, Ihn Sik Seong, Xueping Fan, Kasper Lage, Lily Y. Lu, Joanna Tao, Xuchen Hu, Ronald Berezney, Bruce D. Gelb, Anna Kamp, Ivan P. Moskowitz, Ronald V. Lacro, Lu W, Cynthia C. Morton, James F. Gusella, Richard L. Maas

    出版 2015
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  17. 17
    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies 由 Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah L. Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria Teresa Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim M. Keppler‐Noreuil, Stephen R. Braddock, Gabriele Gillessen‐Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan Lee, Célio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol‐Church, Marco Tartaglia

    出版 2015
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  18. 18
    Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

    Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum 由 Victoria Parker, Kim M. Keppler‐Noreuil, Laurence Faivre, Maxime Luu, Neal L. Oden, Leena De Silva, Julie C. Sapp, Katrina Andrews, Marc Bardou, Kong Y. Chen, Thomas N. Darling, Élodie Gautier, Barry R. Goldspiel, S. Hadj‐Rabia, Julie Harris, Georgios Kounidas, Parag Kumar, Marjorie J. Lindhurst, Romaric Loffroy, Ludovic Martin, Alice Phan, Kristina I. Rother, Brigitte C. Widemann, Pamela L. Wolters, Christine Coubes, Lucile Pinson, Marjolaine Willems, Catherine Vincent‐Delorme, P. Vabres, Robert K. Semple, Leslie G. Biesecker

    出版 2018
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  19. 19
    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum 由 Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E R Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan Huson, Richard W. Whitehousé, Eveliina Jakkula, I. P. Grant, Meena Balasubramanian, Kate Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin D. Clark, Elizabeth A. Sellars, Loren Peña, Vidya Krishnamurty, Andrew Y. Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasić, John M. Graham, Joseph S. Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker

    出版 2014
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  20. 20
    A Mosaic Activating Mutation in<i>AKT1</i>Associated with the Proteus Syndrome

    A Mosaic Activating Mutation in<i>AKT1</i>Associated with the Proteus Syndrome 由 Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin Finn, Kathryn F. Peters, Joyce Turner, Jennifer L. Cannons, David Bick, Laurel C. Blakemore, Catherine Blumhorst, Knut Brockmann, Peter Calder, Natasha Cherman, Matthew A. Deardorff, David B. Everman, Gretchen Golas, Robert M. Greenstein, B. Maya Kato, Kim M. Keppler‐Noreuil, Sergei A. Kuznetsov, Richard T. Miyamoto, Kurt D. Newman, David Ng, Kevin O’Brien, Steven Rothenberg, Douglas J. Schwartzentruber, Virender K. Singhal, Roberto Tirabosco, Joseph Upton, Shlomo Wientroub, Elaine H. Zackai, Kimberly Hoag, Tracey Whitewood-Neal, Pamela Gehron Robey, Pamela L. Schwartzberg, Thomas N. Darling, Laura L. Tosi, James C. Mullikin, Leslie G. Biesecker

    出版 2011
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