Resultats de la cerca - Meena Upadhyaya

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  1. 1
    Emerging therapeutic targets for neurofibromatosis type 1

    Emerging therapeutic targets for neurofibromatosis type 1 per James A. Walker, Meena Upadhyaya

    Publicat 2018
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  2. 2
    Molecular genetics of neurofibromatosis type 1 (NF1).

    Molecular genetics of neurofibromatosis type 1 (NF1). per Ming Shen, Peter S. Harper, Meena Upadhyaya

    Publicat 1996
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  3. 3
    Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

    Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? per Mark Richards, Frédérique Coppée, Nick Thomas, Alexandra Belayew, Meena Upadhyaya

    Publicat 2011
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  4. 4
    Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

    Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis per S Laycock-van Spyk, Nick Thomas, D.N. Cooper, Meena Upadhyaya

    Publicat 2011
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  5. 5
    EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER

    EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER per Oliver Quarrell, Audrey Tyler, Meena Upadhyaya, Andrea L. Meredith, S Youngman, Peter S. Harper

    Publicat 1987
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  6. 6
    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations? per Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya

    Publicat 2012
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  7. 7
    The NF1 somatic mutational landscape in sporadic human cancers

    The NF1 somatic mutational landscape in sporadic human cancers per Charlotte Philpott, Hannah Tovell, Ian M. Frayling, D.N. Cooper, Meena Upadhyaya

    Publicat 2017
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  8. 8
    Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

    Neurofibromatous neuropathy in neurofibromatosis 1 (NF1) per Rosalie E. Ferner, Richard AC Hughes, S M Hall, Meena Upadhyaya, M R Johnson

    Publicat 2004
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  9. 9
    Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1

    Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1 per Claudia Consoli, Celia Moss, Stuart A. Green, D. Balderson, D.N. Cooper, Meena Upadhyaya

    Publicat 2005
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  10. 10
    Germline and somatic<i>NF1</i>gene mutations in plexiform neurofibromas

    Germline and somatic<i>NF1</i>gene mutations in plexiform neurofibromas per Meena Upadhyaya, Gill Spurlock, Bisma Monem, Nick Thomas, Reinhard E. Friedrich, Lan Kluwe, Victor Mautner

    Publicat 2008
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  11. 11
    Review and update of<i>SPRED1</i>mutations causing legius syndrome

    Review and update of<i>SPRED1</i>mutations causing legius syndrome per Hilde Brems, Éric Pasmant, Rick van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius, Ludwine Messiaen

    Publicat 2012
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  12. 12
    A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations

    A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations per S. Sharif, Meena Upadhyaya, Rosalie E. Ferner, Elisa Majounie, A Shenton, Mehmet Nuri Başer, Nalin Thakker, D. Gareth Evans

    Publicat 2011
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  13. 13
    Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis

    Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumor... per Meena Upadhyaya, Gill Spurlock, Laura E. Thomas, Nick Thomas, Mark Richards, Viktor-Felix Mautner, D.N. Cooper, Abhijit Guha, Jim Yan

    Publicat 2012
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  14. 14
    Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

    Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 per Marco Venturin, Paolo Guarnieri, Federica Natacci, M Stabile, Romano Tenconi, Maurizio Clementi, Carmen Hernández, Peter Thompson, Meena Upadhyaya, Lidia Larizza, Paola Riva

    Publicat 2004
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  15. 15
    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype per Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya

    Publicat 2009
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  16. 16
    NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

    NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes per Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman

    Publicat 2003
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  17. 17
    High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

    High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization per Kiran K. Mantripragada, Gillian Spurlock, Lan Kluwe, Nadia Chuzhanova, Rosalie E. Ferner, Ian M. Frayling, Jan P. Dumanski, Abhijit Guha, Victor Mautner, Meena Upadhyaya

    Publicat 2008
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  18. 18
    Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 ( <i>NF1</i> ) gene in neurofibromatosis patients with benign and malignant tumors

    Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 ( <i>NF1</i> ) gene in neurofibromatosis patients with benign and malignant tumors per Meena Upadhyaya, Song Han, Claudia Consoli, Elisa Majounie, Martin Horan, Nick Thomas, Christopher Potts, S. W. Griffiths, Martino Ruggieri, Andreas von Deimling, D.N. Cooper

    Publicat 2004
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  19. 19
    Watson syndrome: is it a subtype of type 1 neurofibromatosis?

    Watson syndrome: is it a subtype of type 1 neurofibromatosis? per Judith Allanson, Meena Upadhyaya, G. H. Watson, M. W. Partington, Alexander MacKenzie, D Lahey, H. H. B. Macleod, M. Sarfarazi, W Broadhead, Peter S. Harper

    Publicat 1991
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  20. 20
    Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

    Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 per Rosalie E. Ferner, Susan Huson, N. H. Thomas, Celia Moss, Harry Willshaw, D. Gareth Evans, Meena Upadhyaya, Richard Towers, M. Gleeson, Christoph Steiger, Amanda Kirby

    Publicat 2006
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