Risultati della ricerca - Louise Izatt

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  1. 1
    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer di Chey Loveday, Katherine Josephs, Daniel Chubb, Adam C. Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull

    Pubblicazione 2018
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  2. 2
    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants

    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants di Helen Hanson, Angela F. Brady, Gillian Crawford, Rosalind A. Eeles, S. L. Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D. Gareth Evans

    Pubblicazione 2020
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  3. 3
    Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline

    Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline di Sasha Howard, Sarah Freeston, Barney Harrison, Louise Izatt, Sonali Natu, Kate Newbold, Sabine Pomplun, Helen Spoudeas, Sophie Wilne, Tom Kurzawinski, Mark N. Gaze

    Pubblicazione 2022
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  4. 4
    The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

    The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services di D. Gareth Evans, Julian Barwell, Diana Eccles, Amanda Collins, Louise Izatt, Chris Jacobs, Alan C. Donaldson, Angela F. Brady, Andrew Cuthbert, Rachel Harrison, Sue Thomas, Anthony Howell, Zosia Miedzybrodzka, Alex Murray

    Pubblicazione 2014
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  5. 5
    Society for Endocrinology <scp>UK</scp> guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

    Society for Endocrinology <scp>UK</scp> guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) di S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds, Andrew Watt, Debbie Willis

    Pubblicazione 2015
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  6. 6
    UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

    UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development di S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds, Andrew Wallace, Andrew Watt, Debbie Willis

    Pubblicazione 2011
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  7. 7
    Large Genomic Deletions in<i>AIP</i>in Pituitary Adenoma Predisposition

    Large Genomic Deletions in<i>AIP</i>in Pituitary Adenoma Predisposition di Marianthi Georgitsi, Elina Heliövaara, Ralf Paschke, Ajith Kumar, Marc Tischkowitz, Outi Vierimaa, Pasi Salmela, Timo Sane, Ernesto De Menis, Salvatore Cannavò, Sadi Gündoğdu, Anneke Lucassen, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Christian A. Koch, Auli Karhu, Lauri A. Aaltonen

    Pubblicazione 2008
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  8. 8
    2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

    2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma di Chantal A Lebbink, Thera P. Links, Agnieszka Czarniecka, Renuka Dias, Rossella Elisei, Louise Izatt, Heiko Krude, Kerstin Lorenz, Markus Luster, Kate Newbold, Arnoldo Piccardo, Manuel Sobrinho‐Simões, Toru Takano, A.S. Paul van Trotsenburg, Frederik A. Verburg, Hanneke M. van Santen

    Pubblicazione 2022
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  9. 9
    Mammographic Density and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Mammographic Density and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers di Gillian Mitchell, Antonis C. Antoniou, Ruth Warren, Susan Peock, Judith Brown, R.S.M. Davies, Jenny Mattison, Margaret Cook, Iqbal Warsi, D. Gareth Evans, Diana Eccles, Fiona Douglas, Joan Paterson, Shirley Hodgson, Louise Izatt, Trevor Cole, Lucy Burgess, Rosalind A. Eeles, Douglas F. Easton

    Pubblicazione 2006
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  10. 10
    Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

    Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations di Maya Lodish, Bo Yuan, Isaac Lévy, Glenn D. Braunstein, Charalampos Lyssikatos, Calvin Ke, Eva Szarek, Alexander S. Karageorgiadis, Elena Belyavskaya, Margarita Raygada, Fábio R. Faucz, Louise Izatt, Caroline Brain, James L. Gardner, Martha Quezado, J. Aidan Carney, James R. Lupski, Constantine A. Stratakis

    Pubblicazione 2015
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  11. 11
    Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol

    Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol di Miriam Dixon-Zegeye, Rachel Shaw, Linda M. Collins, Kendra Perez-Smith, Alexander Ooms, Maggie Qiao, Pan Pantziarka, Louise Izatt, Marc Tischkowitz, Rachel E. Harrison, Angela George, Emma R. Woodward, Simon Lord, Lara Hawkes, D. Gareth Evans, James Franklin, Helen Hanson, Sarah P. Blagden

    Pubblicazione 2024
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  12. 12
    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

    A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma di Eleanor Rattenberry, Lindsey Vialard, Anna C. Y. Yeung, Hayley Bair, Kirsten McKay, Mariam Jafri, Natalie Canham, Trevor Cole, Judit Dénes, Shirley V. Hodgson, Richard Irving, Louise Izatt, Márta Korbonits, Ajith Kumar, Fiona Lalloo, Patrick J. Morrison, Emma R. Woodward, Fiona MacDonald, Yvonne Wallis, Eamonn R. Maher

    Pubblicazione 2013
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  13. 13
    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>)

    When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (<i>GNRHR</i>) di Elena Gianetti, Janet E. Hall, Margaret Au, Ursula B. Kaiser, Richard Quinton, Jane A. Stewart, Daniel L. Metzger, Nelly Pitteloud, Verónica Mericq, Paulina M. Merino, Lynne L. Levitsky, Louise Izatt, Mariarosaria Lang‐Muritano, Victor Y. Fujimoto, Robert G. Dluhy, Matthew Chase, William F. Crowley, Lacey Plummer, Stephanie B. Seminara

    Pubblicazione 2012
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  14. 14
    Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia

    Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia di Marianthi Georgitsi, Anniina Raitila, Auli Karhu, Rob B. van der Luijt, Cora M. Aalfs, Timo Sane, Outi Vierimaa, Markus J. Mäkinen, Karoliina Tuppurainen, R Paschke, Oliver Gimm, Christian A. Koch, Sadi Gündoğdu, Anneke Lucassen, Marc Tischkowitz, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Ernesto De Menis, Virpi Launonen, Pia Vahteristo, Lauri A. Aaltonen

    Pubblicazione 2007
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  15. 15
    <scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

    <scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity di Ruth Casey, David B. Ascher, Eleanor Rattenberry, Louise Izatt, Katrina Andrews, Helen Simpson, Benjamen G Challis, Soo‐Mi Park, V.R. Bulusu, Fiona Lalloo, Douglas E. V. Pires, Hannah D. West, Graeme R. Clark, Philip Smith, James W. Whitworth, Thomas Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D. Hurst, Emma R. Woodward, Eamonn R. Maher

    Pubblicazione 2017
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  16. 16
    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

    Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network di Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Çubuk, Mary Alikian, George J. Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian Berry, James Drummond, Andrew Wallace, Gail Norbury, Diana Eccles, Sian Ellard, Fiona Lalloo, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull

    Pubblicazione 2020
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  17. 17
    Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients

    Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients di Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik, Merel W. Boogaard, Anne-Marijke Borgstein, Kerstin Hansson, Margreet G.E.M. Ausems, E. Gómez, Andrew Green, Frederik J. Hes, Louise Izatt, Liselotte P. van Hest, Ángel Alonso, A. H. J. T. Vriends, Anja Wagner, Wendy A.G. van Zelst–Stams, Hans F. A. Vasen, Hans Morreau, Peter Devilee, Juul Wijnen

    Pubblicazione 2010
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  18. 18
    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>

    Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i> di Christopher J. Ricketts, Julia Forman, Eleanor Rattenberry, Nicola Bradshaw, Fiona Lalloo, Louise Izatt, Trevor Cole, Ruth Armstrong, V K Ajith Kumar, Patrick J. Morrison, A. Brew Atkinson, Fiona Douglas, Steve Ball, Jackie Cook, Umasuthan Srirangalingam, Pip Killick, Gail Kirby, Simon Aylwin, Emma R. Woodward, D. Gareth Evans, Shirley V. Hodgson, V Murday, Shern L. Chew, John Connell, Tom L. Blundell, Fiona MacDonald, Eamonn R. Maher

    Pubblicazione 2009
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  19. 19
    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... di Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher

    Pubblicazione 2012
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  20. 20
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis di Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan, Ioanna Peraki, Aimée L Fenwick, Vikram Sharma, Maryline Allégra, Ανδρέας Ζαραγκούλιας, Elham Sadighi Akha, Samantha J.L. Knight, Helen Lord, Tracy Lester, Louise Izatt, Anne Katrin Lampe, Shehla Mohammed, Fiona J. Stewart, Alain Verloès, Louise C. Wilson, Chris Healy, Paul T. Sharpe, Peter Hammond, Jim R. Hughes, Stephen Taylor, David Johnson, Steven A. Wall, George Mavrothalassitis, Andrew O.M. Wilkie

    Pubblicazione 2013
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