檢索結果 - Meena Upadhyaya

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  1. 1
    Emerging therapeutic targets for neurofibromatosis type 1

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

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

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

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

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

    出版 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 由 S Laycock-van Spyk, Nick Thomas, D.N. Cooper, Meena Upadhyaya

    出版 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 由 Oliver Quarrell, Audrey Tyler, Meena Upadhyaya, Andrea L. Meredith, S Youngman, Peter S. Harper

    出版 1987
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    Artigo
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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? 由 Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya

    出版 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 由 Charlotte Philpott, Hannah Tovell, Ian M. Frayling, D.N. Cooper, Meena Upadhyaya

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

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

    出版 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 由 Claudia Consoli, Celia Moss, Stuart A. Green, D. Balderson, D.N. Cooper, Meena Upadhyaya

    出版 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 由 Meena Upadhyaya, Gill Spurlock, Bisma Monem, Nick Thomas, Reinhard E. Friedrich, Lan Kluwe, Victor Mautner

    出版 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 由 Hilde Brems, Éric Pasmant, Rick van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius, Ludwine Messiaen

    出版 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 由 S. Sharif, Meena Upadhyaya, Rosalie E. Ferner, Elisa Majounie, A Shenton, Mehmet Nuri Başer, Nalin Thakker, D. Gareth Evans

    出版 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... 由 Meena Upadhyaya, Gill Spurlock, Laura E. Thomas, Nick Thomas, Mark Richards, Viktor-Felix Mautner, D.N. Cooper, Abhijit Guha, Jim Yan

    出版 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 由 Marco Venturin, Paolo Guarnieri, Federica Natacci, M Stabile, Romano Tenconi, Maurizio Clementi, Carmen Hernández, Peter Thompson, Meena Upadhyaya, Lidia Larizza, Paola Riva

    出版 2004
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    Carta
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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 由 Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya

    出版 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 由 Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman

    出版 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 由 Kiran K. Mantripragada, Gillian Spurlock, Lan Kluwe, Nadia Chuzhanova, Rosalie E. Ferner, Ian M. Frayling, Jan P. Dumanski, Abhijit Guha, Victor Mautner, Meena Upadhyaya

    出版 2008
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    Artigo
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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 由 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

    出版 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? 由 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

    出版 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 由 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

    出版 2006
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