Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Gordon, Kristiana, Varney, Ruth, Keeley, Vaughan, Riches, Katie, Jeffery, Steve, Van Zanten, Malou, Mortimer, Peter, Ostergaard, Pia, Mansour, Sahar
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
Get full text
Journal Article
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort
Grigoriadis, Dionysios, Sackey, Ege, Riches, Katie, van Zanten, Malou, Brice, Glen, England, Ruth, Mills, Mike, Dobbins, Sara E, Lee, Li Ling, Jeffery, Steve, Dong, Liang, Savage, David B, Mortimer, Peter S, Keeley, Vaughan, Pittman, Alan, Gordon, Kristiana, Ostergaard, Pia
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
Get full text
Journal Article
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Martin-Almedina, Silvia, Martinez-Corral, Ines, Holdhus, Rita, Vicente, Andres, Fotiou, Elisavet, Lin, Shin, Petersen, Kjell, Simpson, Michael A, Hoischen, Alexander, Gilissen, Christian, Jeffery, Heather, Atton, Giles, Karapouliou, Christina, Brice, Glen, Gordon, Kristiana, Wiseman, John W, Wedin, Marianne, Rockson, Stanley G, Jeffery, Steve, Mortimer, Peter S, Snyder, Michael P, Berland, Siren, Mansour, Sahar, Makinen, Taija, Ostergaard, Pia
Published in The Journal of clinical investigation (01.08.2016)
Published in The Journal of clinical investigation (01.08.2016)
Get full text
Journal Article
Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E. Dobbins, Li Ling Lee, Steve Jeffery, Liang Dong, David B. Savage, Peter S. Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
Get full text
Journal Article
Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions
Pearce, Julian, Hadcocks, Linda, Mansour, Sahar, van Zanten, Malou, Jeffery, Steve, Gordon, Kristiana, Ostergaard, Pia, Mortimer, Peter, Macallan, Derek C
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
Get full text
Journal Article
Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia
Jamshidi, Yalda, PhD, Nolte, Ilja M., PhD, Dalageorgou, Chrysoula, BSc, Zheng, Dongling, PhD, Johnson, Toby, PhD, Bastiaenen, Rachel, MBBS, Ruddy, Suzanne, PhD, Talbott, Daniel, BSc, Norris, Kris J., RN, Snieder, Harold, PhD, George, Alfred L., MD, Marshall, Vanessa, MBBS, Shakir, Saad, MD, Kannankeril, Prince J., MD, Munroe, Patricia B., PhD, Camm, A. John, MD, Jeffery, Steve, PhD, Roden, Dan M., MD, Behr, Elijah R., MBBS, MD
Published in Journal of the American College of Cardiology (28.08.2012)
Published in Journal of the American College of Cardiology (28.08.2012)
Get full text
Journal Article
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon
Nadarajah, Noeline, Schulte, Dörte, McConnell, Vivienne, Martin-Almedina, Silvia, Karapouliou, Christina, Mortimer, Peter S, Jeffery, Steve, Schulte-Merker, Stefan, Gordon, Kristiana, Mansour, Sahar, Ostergaard, Pia
Published in International journal of molecular sciences (01.08.2018)
Published in International journal of molecular sciences (01.08.2018)
Get full text
Journal Article
Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia, Marco, Mehler, Ernest L, Goldberg, Rosalie, Zampino, Giuseppe, Brunner, Han G, Kremer, Hannie, van der Burgt, Ineke, Crosby, Andrew H, Ion, Andra, Jeffery, Steve, Kalidas, Kamini, Patton, Michael A, Kucherlapati, Raju S, Gelb, Bruce D
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
Get full text
Journal Article
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., van der Burgt, Ineke, Brunner, Han G., Bertola, Débora R., Crosby, Andrew, Ion, Andra, Kucherlapati, Raju S., Jeffery, Steve, Patton, Michael A., Gelb, Bruce D.
Published in American journal of human genetics (01.06.2002)
Published in American journal of human genetics (01.06.2002)
Get full text
Journal Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Nature communications (26.04.2019)
Published in Nature communications (26.04.2019)
Get full text
Journal Article
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas
Connell, F. C, Ostergaard, P, Carver, C, Brice, G, Williams, N, Mansour, S, Mortimer, P. S, Jeffery, Steve
Published in Human genetics (01.01.2009)
Published in Human genetics (01.01.2009)
Get full text
Journal Article
Epidemiology of U.K. military burns
Foster, Mark Anthony, Moledina, Jamil, Jeffery, Steve L A
Published in Journal of burn care & research (01.05.2011)
Published in Journal of burn care & research (01.05.2011)
Get more information
Journal Article
Mutations in EPHB4 cause human venous valve aplasia
Lyons, Oliver, Walker, James, Seet, Christopher, Ikram, Mohammed, Kuchta, Adam, Arnold, Andrew, Hernández-Vásquez, Magda, Frye, Maike, Vizcay-Barrena, Gema, Fleck, Roland A, Patel, Ashish S, Padayachee, Soundrie, Mortimer, Peter, Jeffery, Steve, Berland, Siren, Mansour, Sahar, Ostergaard, Pia, Makinen, Taija, Modarai, Bijan, Saha, Prakash, Smith, Alberto
Published in JCI insight (22.09.2021)
Published in JCI insight (22.09.2021)
Get full text
Journal Article
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
Raju, Hariharan, Ware, James S, Skinner, Jonathan R, Hedley, Paula L, Arno, Gavin, Love, Donald R, van der Werf, Christian, Tfelt-Hansen, Jacob, Winkel, Bo Gregers, Cohen, Marta C, Li, Xinzhong, John, Shibu, Sharma, Sanjay, Jeffery, Steve, Wilde, Arthur A M, Christiansen, Michael, Sheppard, Mary N, Behr, Elijah R
Published in BMC cardiovascular disorders (23.07.2019)
Published in BMC cardiovascular disorders (23.07.2019)
Get full text
Journal Article
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
Get full text
Journal Article
Mutations in FOXC2 in Humans (Lymphoedema Distichiasis Syndrome) Cause Lymphatic Dysfunction on Dependency
Mellor, Russell H., Tate, Naomi, Stanton, Anthony W.B., Hubert, Charlotte, Mäkinen, Taija, Smith, Alberto, Burnand, Kevin G., Jeffery, Steve, Levick, J. Rodney, Mortimer, Peter S.
Published in Journal of vascular research (01.01.2011)
Published in Journal of vascular research (01.01.2011)
Get full text
Journal Article
Energy dissipation in atomic force microscopy and atomic loss processes
Hoffmann, P M, Jeffery, S, Pethica, J B, Ozer, H O, Oral, A
Published in Physical review letters (24.12.2001)
Published in Physical review letters (24.12.2001)
Get more information
Journal Article
Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome
Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, Patton, Michael A., Sorcini, Mariella, van der Burgt, Ineke, Jeffery, Steve, Gelb, Bruce D.
Published in American journal of human genetics (01.09.2004)
Published in American journal of human genetics (01.09.2004)
Get full text
Journal Article