Search Results - David A. Stevenson

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  1. 1
    Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I

    Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I by Weixi Wang, Jeffry S. Nyman, Koichiro Ono, David A. Stevenson, Xiangli Yang, Florent Elefteriou

    Published 2011
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  2. 2
    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) by Douglas R. Stewart, Bruce R. Korf, Katherine L. Nathanson, David A. Stevenson, Kaleb Yohay

    Published 2018
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  3. 3
    Variable expression of neurofibromatosis 1 in monozygotic twins

    Variable expression of neurofibromatosis 1 in monozygotic twins by Margaret B. Rieley, David A. Stevenson, David Viskochil, Brad T. Tinkle, Lisa J. Martin, Elizabeth K. Schorry

    Published 2011
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  4. 4
    Motor Proficiency in Children With Neurofibromatosis Type 1

    Motor Proficiency in Children With Neurofibromatosis Type 1 by Barbara Johnson, Bruce A. MacWilliams, John C. Carey, David Viskochil, Jacques DʼAstous, David A. Stevenson

    Published 2010
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  5. 5
    Comparative genomic hybridization and chromosomal instability in solid tumours

    Comparative genomic hybridization and chromosomal instability in solid tumours by Patrick H. Rooney, Graeme I. Murray, David A. Stevenson, N E Haites, J Cassidy, Howard L. McLeod

    Published 1999
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  6. 6
    Double Inactivation of NF1 in Tibial Pseudarthrosis

    Double Inactivation of NF1 in Tibial Pseudarthrosis by David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine Messiaen, John C. Carey, Jacques DʼAstous, Stephen D. Santora, David Viskochil

    Published 2006
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  7. 7
    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era by Jamie McDonald, Whitney Wooderchak‐Donahue, Chad VanSant Webb, Kevin J. Whitehead, David A. Stevenson, Pınar Bayrak‐Toydemir

    Published 2015
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  8. 8
    NALCN channelopathies

    NALCN channelopathies by Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda

    Published 2016
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  9. 9
    Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1

    Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1 by David A. Stevenson, Laurie J. Moyer‐Mileur, Mary Murray, Hillarie Slater, Xiaoming Sheng, John C. Carey, Bukhosi Dube, David Viskochil

    Published 2006
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  10. 10
    Contributing factors of mortality in Prader–Willi syndrome

    Contributing factors of mortality in Prader–Willi syndrome by Jennifer Proffitt, Kathryn Osann, Barbara McManus, Virginia Kimonis, Janalee Heinemann, Merlin G. Butler, David A. Stevenson, June‐Anne Gold

    Published 2018
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  11. 11
    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment by Katharina Schimmel, Md Khadem Ali, Serena Y. Tan, Joyce Teng, Huy M., Gary K. Steinberg, David A. Stevenson, Edda Spiekerkoetter

    Published 2021
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  12. 12
    Gastric Rupture and Necrosis in Prader‐Willi Syndrome

    Gastric Rupture and Necrosis in Prader‐Willi Syndrome by David A. Stevenson, Janalee Heinemann, Moris Angulo, Merlin G. Butler, Jim Loker, Norma Rupe, Patrick Kendell, Suzanne B. Cassidy, Ann Scheimann

    Published 2007
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  13. 13
    Deaths due to choking in Prader–Willi syndrome

    Deaths due to choking in Prader–Willi syndrome by David A. Stevenson, Janalee Heinemann, Moris Angulo, Merlin G. Butler, Jim Loker, Norma Rupe, Patrick Kendell, Carol L. Clericuzio, Ann Scheimann

    Published 2006
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  14. 14
    Genetic Variants Associated with Port-Wine Stains

    Genetic Variants Associated with Port-Wine Stains by Alice Frigerio, Karol Wright, Whitney Wooderchak‐Donahue, Oon Tian Tan, Rebecca L. Margraf, David A. Stevenson, J. Fredrik Grimmer, Pınar Bayrak‐Toydemir

    Published 2015
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  15. 15
    Neurofibromin (Nf1) is required for skeletal muscle development

    Neurofibromin (Nf1) is required for skeletal muscle development by Nadine Kossler, Sigmar Stricker, Christian Rödelsperger, Peter N. Robinson, Johnny Kim, Carola Dietrich, Monika Osswald, Jirko Kühnisch, David A. Stevenson, Thomas Braun, Stefan Mundlos, Mateusz Kolanczyk

    Published 2011
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  16. 16
    Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

    Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1 by Jean De La Croix Ndong, Alexander J. Makowski, Sasidhar Uppuganti, Guillaume Vignaux, Koichiro Ono, Daniel S. Perrien, Simon Joubert, S. Rubina Baglio, Donatella Granchi, David A. Stevenson, Jonathan J. Rios, Jeffry S. Nyman, Florent Elefteriou

    Published 2014
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  17. 17
    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia by Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak‐Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock

    Published 2015
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  18. 18
    Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice

    Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice by Richa Sharma, Xiaohua Wu, Steven D. Rhodes, Shi Chen, Yongzheng He, Jin Yuan, Jiliang Li, Xianlin Yang, Xiaohong Li, Li Jiang, Edward T. Kim, David A. Stevenson, David Viskochil, Mingjiang Xu, Feng‐Chun Yang

    Published 2013
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  19. 19
    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation by Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer, Gresham T. Richter, Marcie Steeves, Angela E. Lin, David A. Stevenson, Pınar Bayrak‐Toydemir

    Published 2018
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  20. 20
    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia by Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa, Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabéu, David A. Stevenson, James Runo, Pınar Bayrak‐Toydemir

    Published 2013
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