Suchergebnisse - Lango Allen, Hana

A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells von Locke, Jonathan M., Lango Allen, Hana, Harries, Lorna W.

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders von Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana

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Predicting the Occurrence of Variants in RAG1 and RAG2 von Lawless, Dylan, Lango Allen, Hana, Thaventhiran, James, Hodel, Flavia, Anwar, Rashida, Fellay, Jacques, Walter, Jolan E., Savic, Sinisa

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus von Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus von Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in... von Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian

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Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes von Lango Allen, Hana, Johansson, Stefan, Ellard, Sian, Shields, Beverley, Hertel, Jens K., Ræder, Helge, Colclough, Kevin, Molven, Anders, Frayling, Timothy M., Njølstad, Pål R., Hattersley, Andrew T., Weedon, Michael N.

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GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health von Zhao, Yajie, Stankovic, Stasa, Koprulu, Mine, Wheeler, Eleanor, Day, Felix R., Lango Allen, Hana, Kerrison, Nicola D., Pietzner, Maik, Loh, Po-Ru, Wareham, Nicholas J., Langenberg, Claudia, Ong, Ken K., Perry, John R. B.

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Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes von Johnson, Matthew B, De Franco, Elisa, Lango-Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T, Flanagan, Sarah E

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Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322 von Johnson, Matthew B., De Franco, Elisa, Lango Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Razavi, Zahra, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T., Flanagan, Sarah E.

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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans von Cytlak, Urszula, Resteu, Anastasia, Pagan, Sarah, Green, Kile, Milne, Paul, Maisuria, Sheetal, McDonald, David, Hulme, Gillian, Filby, Andrew, Carpenter, Benjamin, Queen, Rachel, Hambleton, Sophie, Hague, Rosie, Lango Allen, Hana, Thaventhiran, James E.D., Doody, Gina, Collin, Matthew, Bigley, Venetia

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Copy number variation of LINGO1 in familial dystonic tremor von Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., Crosby, Andrew H.

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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man von Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.

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GATA4 mutations are a cause of neonatal and childhood-onset diabetes von Shaw-Smith, Charles, De Franco, Elisa, Lango Allen, Hana, Batlle, Marta, Flanagan, Sarah E., Borowiec, Maciej, Taplin, Craig E., van Alfen-van der Velden, Janiëlle, Cruz-Rojo, Jaime, Perez de Nanclares, Guiomar, Miedzybrodzka, Zosia, Deja, Grazyna, Wlodarska, Iwona, Mlynarski, Wojciech, Ferrer, Jorge, Hattersley, Andrew T., Ellard, Sian

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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development von De Franco, Elisa, Watson, Rachel A., Weninger, Wolfgang J., Wong, Chi C., Flanagan, Sarah E., Caswell, Richard, Green, Angela, Tudor, Catherine, Lelliott, Christopher J., Geyer, Stefan H., Maurer-Gesek, Barbara, Reissig, Lukas F., Lango Allen, Hana, Caliebe, Almuth, Siebert, Reiner, Holterhus, Paul Martin, Deeb, Asma, Prin, Fabrice, Hilbrands, Robert, Heimberg, Harry, Ellard, Sian, Hattersley, Andrew T., Barroso, Inês

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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans von Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.

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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing von Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian

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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses von Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I., Ma, Chi A., Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A., Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P.M., Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D., Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J., Jodrell, Duncan Ian, Smith, Kenneth G.C., Boztug, Kaan, Milner, Joshua D., Thaventhiran, James E.D.

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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 von Cabezas, Oscar Rubio, Flanagan, Sarah E., Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, Cheshire, Chris, Crowne, Elizabeth, Dumitriu, Simona, Drynda, Robert, Hamilton-Shield, Julian P, Hayes, Wesley, Hofherr, Alexis, Iancu, Daniela, Issler, Naomi, Jefferies, Craig, Jones, Peter, Johnson, Matthew, Kesselheim, Anne, Klootwijk, Enriko, Koettgen, Michael, Lewis, Wendy, Martos, José María, Mozere, Monika, Norman, Jill, Patel, Vaksha, Parrish, Andrew, Pérez-Cerdá, Celia, Pozo, Jesús, Rahman, Sofia A, Sebire, Neil, Tekman, Mehmet, Turnpenny, Peter D., Hoff, William van’t, Viering, Daan H.H.M., Weedon, Michael N., Wilson, Patricia, Guay-Woodford, Lisa, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

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Hundreds of variants clustered in genomic loci and biological pathways affect human height von Lango Allen, Hana, Estrada, Karol, Lettre, Guillaume, Berndt, Sonja I., Weedon, Michael N., Rivadeneira, Fernando, Willer, Cristen J., Jackson, Anne U., Vedantam, Sailaja, Raychaudhuri, Soumya, Ferreira, Teresa, Wood, Andrew R., Weyant, Robert J., Segrè, Ayellet V., Speliotes, Elizabeth K., Wheeler, Eleanor, Soranzo, Nicole, Park, Ju-Hyun, Yang, Jian, Gudbjartsson, Daniel, Heard-Costa, Nancy L., Randall, Joshua C., Qi, Lu, Smith, Albert Vernon, Mägi, Reedik, Pastinen, Tomi, Liang, Liming, Heid, Iris M., Luan, Jian'an, Thorleifsson, Gudmar, Winkler, Thomas W., Goddard, Michael E., Lo, Ken Sin, Palmer, Cameron, Workalemahu, Tsegaselassie, Aulchenko, Yurii S., Johansson, Åsa, Zillikens, M.Carola, Feitosa, Mary F., Esko, Tõnu, Johnson, Toby, Ketkar, Shamika, Kraft, Peter, Mangino, Massimo, Prokopenko, Inga, Absher, Devin, Albrecht, Eva, Ernst, Florian, Glazer, Nicole L., Hayward, Caroline, Hottenga, Jouke-Jan, Jacobs, Kevin B., Knowles, Joshua W., Kutalik, Zoltán, Monda, Keri L., Polasek, Ozren, Preuss, Michael, Rayner, Nigel W., Robertson, Neil R., Steinthorsdottir, Valgerdur, Tyrer, Jonathan P., Voight, Benjamin F., Wiklund, Fredrik, Xu, Jianfeng, Zhao, Jing Hua, Nyholt, Dale R., Pellikka, Niina, Perola, Markus, Perry, John R.B., Surakka, Ida, Tammesoo, Mari-Liis, Altmaier, Elizabeth L., Amin, Najaf, Aspelund, Thor, Bhangale, Tushar, Boucher, Gabrielle, Chasman, Daniel I., Chen, Constance, Coin, Lachlan, Cooper, Matthew N., Dixon, Anna L., Gibson, Quince, Grundberg, Elin, Hao, Ke, Junttila, M. Juhani, Kaplan, Lee M., Kettunen, Johannes, König, Inke R., Kwan, Tony, Lawrence, Robert W., Levinson, Douglas F., Lorentzon, Mattias, McKnight, Barbara, Morris, Andrew P., Müller, Martina, Ngwa, Julius Suh, Purcell, Shaun, Rafelt, Suzanne, Salem, Rany M., Salvi, Erika, Sanna, Serena, Shi, Jianxin, Sovio, Ulla, Thompson, John R., Turchin, Michael C., Vandenput, Liesbeth, Verlaan, Dominique J., Vitart, Veronique, White, Charles C., Ziegler, Andreas, Almgren, Peter, Balmforth, Anthony J., Campbell, Harry, Citterio, Lorena, De Grandi, Alessandro, Dominiczak, Anna, Duan, Jubao, Elliott, Paul, Elosua, Roberto, Eriksson, Johan G., Freimer, Nelson B., Geus, Eco J.C., Glorioso, Nicola, Haiqing, Shen, Hartikainen, Anna-Liisa, Havulinna, Aki S., Hicks, Andrew A., Hui, Jennie, Igl, Wilmar, Illig, Thomas, Jula, Antti, Kajantie, Eero, Kilpeläinen, Tuomas O., Koiranen, Markku, Kolcic, Ivana, Koskinen, Seppo, Kovacs, Peter, Laitinen, Jaana, Liu, Jianjun, Lokki, Marja-Liisa, Marusic, Ana, Maschio, Andrea, Meitinger, Thomas, Mulas, Antonella, Paré, Guillaume, Parker, Alex N., Peden, John F., Petersmann, Astrid, Pichler, Irene, Pietiläinen, Kirsi H., Pouta, Anneli, Ridderstråle, Martin, Rotter, Jerome I., Sambrook, Jennifer G., Sanders, Alan R., Schmidt, Carsten Oliver, Sinisalo, Juha, Smit, Jan H., Stringham, Heather M., Walters, G.Bragi, Widen, Elisabeth, Wild, Sarah H., Willemsen, Gonneke, Zagato, Laura, Zgaga, Lina, Zitting, Paavo, Alavere, Helene, Farrall, Martin, McArdle, Wendy L., Nelis, Mari, Peters, Marjolein J., Ripatti, Samuli, van Meurs, Joyce B.J., Aben, Katja K., Ardlie, Kristin G, Beckmann, Jacques S., Beilby, John P., Bergman, Richard N., Bergmann, Sven, Collins, Francis S., Cusi, Daniele, den Heijer, Martin, Eiriksdottir, Gudny, Gejman, Pablo V., Hall, Alistair S., Hamsten, Anders, Huikuri, Heikki V., Iribarren, Carlos, Kähönen, Mika, Kaprio, Jaakko, Kathiresan, Sekar, Kiemeney, Lambertus, Kocher, Thomas, Launer, Lenore J., Lehtimäki, Terho, Melander, Olle, Mosley, Tom H., Musk, Arthur W., Nieminen, Markku S., O'Donnell, Christopher J., Ohlsson, Claes, Oostra, Ben, Palmer, Lyle J., Raitakari, Olli, Ridker, Paul M., Rioux, John D., Rissanen, Aila, Rivolta, Carlo, Schunkert, Heribert, Shuldiner, Alan R., Siscovick, David S., Stumvoll, Michael, Tönjes, Anke, Tuomilehto, Jaakko, van Ommen, Gert-Jan, Viikari, Jorma, Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Province, Michael A., Kayser, Manfred, Arnold, Alice M., Atwood, Larry D., Boerwinkle, Eric, Chanock, Stephen J., Deloukas, Panos, Gieger, Christian, Grönberg, Henrik, Hall, Per, Hattersley, Andrew T., Hengstenberg, Christian, Hoffman, Wolfgang, Lathrop, G.Mark, Salomaa, Veikko, Schreiber, Stefan, Uda, Manuela, Waterworth, Dawn, Wright, Alan F., Assimes, Themistocles L., Barroso, Inês, Hofman, Albert, Mohlke, Karen L., Boomsma, Dorret I., Caulfield, Mark J., Cupples, L.Adrienne, Erdmann, Jeanette, Fox, Caroline S., Gudnason, Vilmundur, Gyllensten, Ulf, Harris, Tamara B., Hayes, Richard B., Jarvelin, Marjo-Riitta, Mooser, Vincent, Munroe, Patricia B., Ouwehand, Willem H., Penninx, Brenda W., Pramstaller, Peter P., Quertermous, Thomas, Rudan, Igor, Samani, Nilesh J., Spector, Timothy D., Völzke, Henry, Watkins, Hugh, Wilson, James F., Groop, Leif C., Haritunians, Talin, Hu, Frank B., Kaplan, Robert C., Metspalu, Andres, North, Kari E., Schlessinger, David, Wareham, Nicholas J., Hunter, David J., O'Connell, Jeffrey R., Strachan, David P., Wichmann, H.-Erich, Borecki, Ingrid B., van Duijn, Cornelia M., Schadt, Eric E., Thorsteinsdottir, Unnur, Peltonen, Leena, Uitterlinden, André, Visscher, Peter M., Chatterjee, Nilanjan, Loos, Ruth J.F., Boehnke, Michael, McCarthy, Mark I., Ingelsson, Erik, Lindgren, Cecilia M., Abecasis, Gonçalo R., Stefansson, Kari, Frayling, Timothy M., Hirschhorn, Joel N

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