Lung Fluid Immunoglobulin from HIV-Infected Subjects Has Impaired Opsonic Function against Pneumococci von Eagan, Roger, Twigg, Homer L., French, Neil, Musaya, Janelisa, Day, Richard B., Zijlstra, Eduard E., Tolmie, Helen, Wyler, David, Molyneux, Malcolm E., Gordon, Stephen B.

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Opsonic function of bronchoalveolar lavage IgG after pneumococcal vaccination in HIV-infected and uninfected adults von Tam, Jerry C.H, Grant, Nicola L., MSc, Freire-Moran, Laura, MSc, Tolmie, Helen, PhD, French, Neil, FRCP, PhD, Gordon, Stephen B., FRCP, MD

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Conjugate Pneumococcal Vaccine in HIV-Infected Ugandans and the Effect of Past Receipt of Polysaccharide Vaccine von Miiro, George, Kayhty, Helena, Watera, Christine, Tolmie, Helen, Whitworth, James A. G., Gilks, Charles F., French, Neil

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Effect of recurrent invasive pneumococcal disease on serum anti-pneumolysin IgG titres in HIV infected adults von Etuwewe, Onajite M, Swann, Natalie, Hollingshead, Susan, Tolmie, Helen, Zijlstra, Ed E, Faragher, Brian, French, Neil, Gordon, Stephen B

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Effect of recurrent invasive pneumococcal disease on serum anti-pneumolysin IgG titres in HIV infected adults von Etuwewe, Onajite M, Swann, Natalie, Hollingshead, Susan, Tolmie, Helen, Zijlstra, Ed E, Faragher, Brian, French, Neil, Gordon, Stephen B

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B von Méhes, Károly, Shannon, Nora, FitzPatrick, David, Reid, Sarah, Douglas, Jenny, Firth, Helen, Plaja, Alberto, Robin, Nathanial, Irrthum, Alexandre, Nash, Richard, Tolmie, John, Kidd, Alexa, Swansbury, John, Coleman, Kim, Hanks, Sandra, Rahman, Nazneen

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus von Anderson, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I, Crow, Yanick J

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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Vari... von Allen, Sophie, Durkie, Miranda, Burghel, George J., Palmer-Smith, Sheila, McDevitt, Trudi, Garrett, A., Loong, L., Torr, B., Allen, S., Berry, I.R., Eccles, D.M., Tischkowitz, M., Evans, D.G., Lalloo, F., Kumar, A., Ross, A., Hogg, A.C., McIldowie, B., Olimpio, C., Clabby, C., Byrne, C., Moore, D., Donnelly, D., Atkinson, E., Johnston, E., Powell, H., Hoyle, J., Murray, J., Callaway, J., Murphy, K., Cadoo, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Reed, L., Hawkes, L., Kiely, L., Side, L., Shanmugasundaram, M., Duff, M., Ahmed, M., O'Brien, C., Middleton, O., Logan, P., Tredwell, R., Harrison, R., Nyanhete, R., Davidson, R., Butler, S., Dell, S., Greville-Heygate, S., Tennant, S., McVeigh, T., Clowes, V., Kemp, Z., Joyce, C., Timbs, A., Husher, C., Reay, D., Harper, J., Linton-Willoughby, T., Watt, C., Mitchell, R., Nickless, G., McCarthy, C., Botosneanu, S., Sherlaw, C., Forde, C., Petley, E., Braham, R., Hanington, L., Irving, R., Gabriel, J., Chiecchio, L., Cloke, V., Pleasance, B., Whitehouse, H., Sau, C., Massey, H., Gillespie, K., Alder, A., Cassidy, C., Orfali, N., Luharia, A., Andreou, A., Edis, M., Callard, A., Ostrowski, P., Freestone, L., Whitworth, A., Mutch, S., Begum, R., Smith, C., Taylor, S., McSorley, L., Alexopoulos, P., Moore, R., Kosicka-Slawinska, M., Ali, F.

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum von BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants von Loong, Lucy, Cubuk, Cankut, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Turnbull, Clare, Ansari, A., Kumar, A., Donaldson, A., Brady, A., Hogg, A.-C., Bowden, A. Ramsay, Coad, B., Speight, B., DeSouza, B., Olimpio, C., Clabby, C., Byrne, C., Maurer, C., Baralle, D., Moore, D., Donnelly, D., Atkinson, E., Baple, E., Woodward, E., Petrides, E., McRonald, F., Pelz, F., Rea, G., Powell, H., Carley, H., Thomas, H.J.W., Cook, J., Hoyle, J., Murray, J., Field, J., Burn, J., Bruty, J., Grant, J., Barwell, J., Monahan, K., Tatton-Brown, K., Mokretar, K., Reay, K., Russell, K., Stone, K., Reed, L., Cobbold, L., Busby, L., Izatt, L., Side, L., Sarkies, L., Bartlett, M., Watson, M., Bradford, M., Huxley, M., Ryten, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Hart, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Talukdar, S., Butler, S., Ribeiro, S., Daniels, S., Abbs, S., Foo, T., Bedenham, T., Cranston, T., Woodwaer, N., Wallis, Y., Mullan, G., Reuther, A.-M., Lawn, C., Nocera-Jijon, D., Cross, E., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Tadiso, T., Sahan, K., Worrillow, L., Barlett, M., Watt, C.

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders von Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, Mcgowan, Ruth, Murphy, Helen, Raas-rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, Van Den Ende, Jenneke, Van Der Aa, Nathalie, Van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-daire, Valérie

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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis von Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth

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Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis von Gribouval, Olivier, Morinière, Vincent, Pawtowski, Audrey, Arrondel, Christelle, Sallinen, Satu-Leena, Saloranta, Carola, Clericuzio, Carol, Viot, Géraldine, Tantau, Julia, Blesson, Sophie, Cloarec, Sylvie, Machet, Marie Christine, Chitayat, David, Thauvin, Christelle, Laurent, Nicole, Sampson, Julian R, Bernstein, Jonathan A, Clemenson, Alix, Prieur, Fabienne, Daniel, Laurent, Levy-Mozziconacci, Annie, Lachlan, Katherine, Alessandri, Jean Luc, Cartault, François, Rivière, Jean Pierre, Picard, Nicole, Baumann, Clarisse, Delezoide, Anne Lise, Belar Ortega, Maria, Chassaing, Nicolas, Labrune, Philippe, Yu, Sui, Firth, Helen, Wellesley, Diana, Bitzan, Martin, Alfares, Ahmed, Braverman, Nancy, Krogh, Lotte, Tolmie, John, Gaspar, Harald, Doray, Bérénice, Majore, Silvia, Bonneau, Dominique, Triau, Stéphane, Loirat, Chantal, David, Albert, Bartholdi, Deborah, Peleg, Amir, Brackman, Damien, Stone, Rosario, Deberardinis, Ralph, Corvol, Pierre, Michaud, Annie, Antignac, Corinne, Gubler, Marie Claire

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Evaluation of NSD2 and NSD3 in overgrowth syndromes von Douglas, Jenny, Coleman, Kim, Tatton-Brown, Katrina, Hughes, Helen E, Temple, I Karen, Cole, Trevor R P, Rahman, Nazneen

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Familial Syndromic Esophageal Atresia Maps to 2p23-p24 von Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C.M., Gallardo, M. Esther, Smeets, Dominique F.C.M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C.P., van Bokhoven, Hans, Brunner, Han G.

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1-ethylphenoxathiin 10,10-dioxide von JONATHAN ROBERT TOLMIE DAVIDSON, BARRETT RANDOLPH COOPER, HELEN LYNG WHITE, MORTON HARFENIST, DANIEL PETER CLAUDE MCGEE

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FOERFARANDE FOER FRAMSTAELLNING AV TERAPEUTISKT AKTIV 1-ETYLFENOXATIIN-10,10-DIOXID von DAVIDSON,JONATHAN ROBERT TOLMIE, MCGEE,DANIEL PETER CLAUDE, WHITE,HELEN LYNG, COOPER,BARRET RANDOLPH, HARFENIST,MORTON

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