检索结果 - Steve Jeffery

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  1. 1
    One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B

    One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B 由 Ali R. Afzal, Steve Jeffery

    出版 2003
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  2. 2
    Association of interleukin-6 -174G/C promoter polymorphism with hypertension and left ventricular hypertrophy in dialysis patients

    Association of interleukin-6 -174G/C promoter polymorphism with hypertension and left ventricular hypertrophy in dialysis patients 由 Attilio Losito, Kamini Kalidas, Stefania Santoni, Steve Jeffery

    出版 2003
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  3. 3
    Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.

    Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. 由 K D MacDermot, A K Saggar-Malik, D. L. Economides, Steve Jeffery

    出版 1998
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  4. 4
    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings 由 FC Connell, Kristiana Gordon, Glen Brice, Vaughan Keeley, Steve Jeffery, P.S. Mortimer, Sahar Mansour, Pia Østergaard

    出版 2013
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  5. 5
    The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype

    The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype 由 Harshad B. Patel, Paul E. Hart, Thomas T. Warner, Richard S. Houlston, M A Patton, Steve Jeffery, Andrew H. Crosby

    出版 2001
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  6. 6
    Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

    Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis 由 Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou van Zanten, Peter Mortimer, Pia Østergaard, Sahar Mansour

    出版 2020
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  7. 7
    Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

    Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families 由 Elijah R. Behr, Chrysoula Dalageorgou, Michael Christiansen, Petros Syrris, Siân Hughes, Maite Tome, Edward Rowland, Steve Jeffery, William J. McKenna

    出版 2008
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  8. 8
    <i>FLT</i><i>4</i>/<i>VEGFR</i><i>3</i>and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

    <i>FLT</i><i>4</i>/<i>VEGFR</i><i>3</i>and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update 由 Kristiana Gordon, Sarah L. Spiden, Fiona Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard

    出版 2012
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  9. 9
    Mutations in <i>FOXC2</i> Are Strongly Associated With Primary Valve Failure in Veins of the Lower Limb

    Mutations in <i>FOXC2</i> Are Strongly Associated With Primary Valve Failure in Veins of the Lower Limb 由 Russell H. Mellor, Glen Brice, A.W.B. Stanton, Jane O. French, Alberto Smith, Steve Jeffery, J. R. Levick, K G Burnand, Peter Mortimer

    出版 2007
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  10. 10
    Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

    Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome 由 Marco Tartaglia, Viviana Cordeddu, Hong Chang, Adam Shaw, Kamini Kalidas, Andrew H. Crosby, Michael A. Patton, M Sorcini, Ineke van der Burgt, Steve Jeffery, Bruce D. Gelb

    出版 2004
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  11. 11
    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype 由 Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery

    出版 2011
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  12. 12
    Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

    Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema 由 Kristiana Gordon, Dörte Schulte, Glen Brice, Michael A. Simpson, M. Guy Roukens, Andreas van Impel, Fiona Connell, Kamini Kalidas, Steve Jeffery, Peter Mortimer, Sahar Mansour, Stefan Schulte‐Merker, Pia Østergaard

    出版 2013
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  13. 13
    Ancestry as a Determinant of Mean Population C-Reactive Protein Values

    Ancestry as a Determinant of Mean Population C-Reactive Protein Values 由 Tina Shah, Paul J. Newcombe, Liam Smeeth, Juliet Addo, Juan P. Casas, John C. Whittaker, Michelle A. Miller, Lorna Tinworth, Steve Jeffery, Pasquale Strazzullo, Francesco P. Cappuccio, Aroon D. Hingorani

    出版 2010
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  14. 14
    PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

    PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity 由 Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora Romeo Bertola, Andrew H. Crosby, Andra Ion, Raju Kucherlapati, Steve Jeffery, Michael A. Patton, Bruce D. Gelb

    出版 2002
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  15. 15
    A Gene for Lymphedema-Distichiasis Maps to 16q24.3

    A Gene for Lymphedema-Distichiasis Maps to 16q24.3 由 Jonathan Mangion, Nazneen Rahman, Sahar Mansour, Glen Brice, Jane L. Rosbotham, Anne H. Child, Victoria A. Murday, Peter Mortimer, Rita Barfoot, A Sigurdsson, Sarah Edkins, M. Sarfarazi, K G Burnand, Alison Evans, T. O. NUNAN, Michael R. Stratton, Steve Jeffery

    出版 1999
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  16. 16
    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis 由 Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, M Snyder, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard

    出版 2015
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  17. 17
    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations 由 Gabriela Jones, Pia Østergaard, Anthony T. Moore, Fiona Connell, Denise Williams, Oliver Quarrell, Angela F. Brady, Isabel Spier, Fılız Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A. Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter Mortimer, Pradeep Vasudevan, Sahar Mansour

    出版 2013
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  18. 18
    Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia

    Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia 由 Yalda Jamshidi, Ilja M. Nolte, Chrysoula Dalageorgou, Dongling Zheng, Toby Johnson, Rachel Bastiaenen, Suzanne Ruddy, Daniel Talbott, Kris Norris, Harold Snieder, Alfred L. George, Vanessa Marshall, Saad Shakir, Prince J. Kannankeril, Patricia B. Munroe, A. John Camm, Steve Jeffery, Dan M. Roden, Elijah R. Behr

    出版 2012
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  19. 19
    Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

    Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) 由 Pia Østergaard, Michael A. Simpson, Fiona Connell, Colin G. Steward, Glen Brice, Wesley J. Woollard, Dimitra Dafou, Tatjana Kilo, Sarah Smithson, Peter Lunt, Victoria A. Murday, Shirley Hodgson, Russell Keenan, Daniela T. Pilz, Inés Martínez‐Corral, Taija Mäkinen, Peter Mortimer, Steve Jeffery, Richard C. Trembath, Sahar Mansour

    出版 2011
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  20. 20
    EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

    EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis 由 Silvia Martin‐Almedina, Inés Martínez‐Corral, Rita Holdhus, Andres Vicente, Elisavet Fotiou, Shin Lin, Kjell Petersen, Michael A. Simpson, Alexander Hoischen, Christian Gilissen, Heather Jeffery, Giles Atton, Christina Karapouliou, Glen Brice, Kristiana Gordon, John Wiseman, Marianne Wedin, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, M Snyder, Siren Berland, Sahar Mansour, Taija Mäkinen, Pia Østergaard

    出版 2016
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