תוצאות חיפוש - Marie Shaw

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  1. 1
    Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.

    Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. מאת M. Cabrera, Marie Shaw, Claire E. Sharples, Hawys Williams, M Castés, J Convit, Jenefer M. Blackwell

    יצא לאור 1995
    קבל טקסט מלא
    Artigo
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  2. 2
    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal

    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal מאת Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

    יצא לאור 2015
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    Artigo
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  3. 3
    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i>

    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i> מאת Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  4. 4
    Detection of Leishmania infantum by PCR, serology and cellular immune response in a cohort study of Brazilian dogs

    Detection of Leishmania infantum by PCR, serology and cellular immune response in a cohort study of Brazilian dogs מאת Rupert J. Quinnell, Orin Courtenay, Susan Davidson, Lourdes Maria Garcez, Bronwen E. Lambson, Patrícia Karla Santos Ramos, Jeffrey Jon Shaw, Marie Shaw, Christopher Dye

    יצא לאור 2001
    קבל טקסט מלא
    Artigo
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  5. 5
    Genetic variation in RYR1 and malignant hyperthermia phenotypes

    Genetic variation in RYR1 and malignant hyperthermia phenotypes מאת Danielle Carpenter, Rachel L. Robinson, Rupert J. Quinnell, Christopher Ringrose, Marion C. Hogg, F. Casson, Patrick Booms, David Iles, P.J. Halsall, Derek S. Steele, Marie Shaw, Philip M. Hopkins

    יצא לאור 2009
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    Artigo
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  6. 6
    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations מאת Michael Field, Ingrid E. Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie C. Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron A.G. Willis‐Owen, Jozef Gécz

    יצא לאור 2012
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    Artigo
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  7. 7
    O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

    O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling מאת Nithya Selvan, Stephan George, Fatema Serajee, Marie Shaw, Lynne Hobson, Vera M. Kalscheuer, Nripesh Prasad, Shawn Levy, Juliet Taylor, Salim Aftimos, Charles E. Schwartz, Ahm M. Huq, Jozef Gécz, Lance Wells

    יצא לאור 2018
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    Artigo
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  8. 8
    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment מאת Angélique Quartier, Jérémie Courraud, Thuong Ha, George McGillivray, Bertrand Isidor, Katherine Rose, Nathalie Drouot, Marie‐Armel Savidan, Claire Feger, Hélène Jagline, Jamel Chelly, Marie Shaw, Frédéric Laumonnier, Jozef Gécz, Jean‐Louis Mandel, Amélie Piton

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  9. 9
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum

    Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum מאת Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  10. 10
    Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

    Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability מאת Krithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, Chin Fen Teo, Melanie May, Sneha Patel, Brent Weatherly, Cindy Skinner, John M. Opitz, John C. Carey, David Viskochil, Jozef Gécz, Marie Shaw, Yunhui Peng, Emil Alexov, Tao Wang, Charles E. Schwartz, Lance Wells

    יצא לאור 2017
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    Artigo
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  11. 11
    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability מאת Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi, Sarah Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anné Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, G Turner, Michael Field, Randall S. Walikonis, Victoria L. Harvey, Anna Hackett, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  12. 12
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability מאת Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, María‐Isabel Tejada, Jozef Gécz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin B. Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger E. Stevenson, Charles E. Schwartz, James Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Matthew E. Hurles, F. Lucy Raymond

    יצא לאור 2015
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    Artigo
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  13. 13
    Erratum: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    Erratum: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes מאת Anna Hackett, Patrick Tarpey, Andrea Licata, James J. Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, M. W. Partington, Roger E. Stevenson, John Tolmie, John R.W. Yates, Gillian Turner, Meredith Wilson, P. Andrew Futreal, Mark Corbett, Marie Shaw, Jozef Gécz, F. Lucy Raymond, Michael R. Stratton, Charles E. Schwartz, Fatima Abidi

    יצא לאור 2010
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    Errata/Corrigenda
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  14. 14
    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes מאת Anna Hackett, Patrick Tarpey, Andrea Licata, James J. Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, M. W. Partington, Roger E. Stevenson, John Tolmie, John R.W. Yates, Gillian Turner, Meredith Wilson, P. Andrew Futreal, Mark Corbett, Marie Shaw, Jozef Gécz, F. Lucy Raymond, Michael R. Stratton, Charles E. Schwartz, Fatima Abidi

    יצא לאור 2009
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    Artigo
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  15. 15
    Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

    Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation מאת Kathryn P. Burdon, James McKay, Michèle M. Sale, Isabelle Russell‐Eggitt, David A. Mackey, Manuel Wirth, James E. Elder, Alan Nicoll, Michael W. Clarke, Liesel M. FitzGerald, Jim Stankovich, Marie Shaw, Shiwani Sharma, Srećko Gajović, Peter Gruß, Shelley Ross, Paul Q. Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, Jamie E. Craig

    יצא לאור 2003
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    Artigo
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  16. 16
    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability מאת Annabel Whibley, Vincent Plagnol, Patrick Tarpey, Fatima Abidi, Tod Fullston, Maja K. Choma, Catherine Boucher, Lorraine Shepherd, Lionel Willatt, Georgina Parkin, Raffaella Smith, P. Andrew Futreal, Marie Shaw, Jackie Boyle, Andrea Licata, Cindy Skinner, Roger E. Stevenson, Gillian Turner, Michael Field, Anna Hackett, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, F. Lucy Raymond

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  17. 17
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study מאת Michael J. Friez, Susan Sklower Brooks, Roger E. Stevenson, Michael Field, Monica J. Basehore, Lesley C. Adès, Courtney Sebold, Stephen J. McGee, Samantha Saxon, Cindy Skinner, Maria E. Craig, Lucy Murray, Richard J. Simensen, Ying Yzu Yap, Marie Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick Tarpey, Fatima Abidi, Jozef Gécz, Charles E. Schwartz

    יצא לאור 2016
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    Artigo
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  18. 18
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder מאת Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    יצא לאור 2008
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    Artigo
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  19. 19
    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability מאת Raman Kumar, Mark Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gécz

    יצא לאור 2015
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    Artigo
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  20. 20
    Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

    Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus מאת F. Lucy Raymond, Patrick Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon W. Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Gillian Turner, Oliver Quarrell, Trevor Cole, Douglas F. Easton, Richard Wooster, Martin Bobrow, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, P. Andrew Futreal

    יצא לאור 2007
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    Artigo
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