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Frayling, Timothy M., Timpson, Nicholas J., Weedon, Michael N., Zeggini, Eleftheria, Freathy, Rachel M., Lindgren, Cecilia M., Perry, John R. B., Elliott, Katherine S., Lango, Hana, Rayner, Nigel W., Shields, Beverley, Harries, Lorna W., Barrett, Jeffrey C., Ellard, Sian, Groves, Christopher J., Knight, Bridget, Patch, Ann-Marie, Ness, Andrew R., Ebrahim, Shah, Lawlor, Debbie A., Ring, Susan M., Ben-Shlomo, Yoav, Jarvelin, Marjo-Riitta, Sovio, Ulla, Bennett, Amanda J., Melzer, David, Ferrucci, Luigi, Loos, Ruth J. F., Barroso, Inês, Wareham, Nicholas J., Karpe, Fredrik, Owen, Katharine R., Cardon, Lon R., Walker, Mark, Hitman, Graham A., Palmer, Colin N. A., Doney, Alex S. F.Graham A., Morris, Andrew D., Smith, George Davey, Hattersley, Andrew T., McCarthy, Mark I. and Wellcome Trust Case Control (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316 5826: 889-894. doi:10.1126/science.1141634 116   1675 Cited 1667 times in Scopus1667 99
Quek, Kelly, Nones, Katia, Patch, Ann-Marie, Fink, J. Lynn, Newell, Felicity, Cloonan, Nicole, Miller, David, Fadlullah, Muhammad Z. H., Kassahn, Karin, Christ, Angelika N., Bruxner, Timothy J. C., Manning, Suzanne, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Wani, Shivangi, Steptoe, Anita, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Qinying, Australian Pancreatic Cancer Genome Initiative, Wilson, Peter, Biankin, Andrew V., Pearson, John V., Waddell, Nic and Grimmond, Sean M. (2014) A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing. BioTechniques, 57 1: 31-38. doi:10.2144/000114189 28 1 0 Cited 0 times in Scopus0 3
Ellard, S, Edghill, EL, Locke, J, Flanagan, SE, Patch, AM, Harries, LW and Hattersley, AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S24-S24). Sep 15-17, 2008. 20   0
Chou, Angela, Waddell, Nicola, Cowley, Mark J., Gill, Anthony J., Chang, David K., Patch, Ann-Marie, Nones, Katia, Wu, Jianmin, Pinese, Mark, Johns, Amber L., Miller, David K., Kassahn, Karin S., Nagrial, Adnan M., Wasan, Harpreet, Goldstein, David, Toon, Christopher W., Chin, Venessa, Chantrill, Lorraine, Humphris, Jeremy, Mead, R. Scott, Rooman, Ilse, Samra, Jaswinder S., Pajic, Marina, Musgrove, Elizabeth A., Pearson, John V., Morey, Adrienne L., Grimmond, Sean M. and Biankin, Andrew V. (2013) Clinical and molecular characterization of HER2 amplified-pancreatic cancer. Genome Medicine, 5 8: 78.1-78.10. doi:10.1186/gm482 25   8 Cited 6 times in Scopus6 81
Rafiq, Meena, Flanagan, Sarah E., Patch, Ann-Marie, Shields, Beverley M., Ellard, Sian, Hattersley, Andrew T. and Neonatal Diabetes International Collaborative Group (2008) Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31 2: 204-209. doi:10.2337/dc07-1785 37   73 Cited 93 times in Scopus93 0
Patch, Ann-Marie and Aves, Stephen J. (2007) Fingerprinting fission yeast: Polymorphic markers for molecular genetic analysis of Schizosaccharomyces pombe strains. Microbiology, 153 3: 887-897. doi:10.1099/mic.0.2006/001669-0 64   2 Cited 2 times in Scopus2 0
Flanagan, Sarah, Edghill, Emma, Patch, Ann-Marie, Minton, Jayne, Ellard, Sian and Hattersley, Andrew (2008). Genetic heterogeneity in permanent neonatal diabetes. In: 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Istanbul, Turkey, (38-38). 20-23 September 2008. 31   0
Nones, Katia, Waddell, Nic, Song, Sarah, Patch, Ann-Marie, Miller, David, Johns, Amber, Wu, Jianmin, Kassahn, Karin S., Wood, David, Bailey, Peter, Fink, Lynn, Manning, Suzanne, Christ, Angelika N., Nourse, Craig, Kazakoff, Stephen, Taylor, Darrin, Leonard, Conrad, Chang, David K., Jones, Marc D., Thomas, Michelle, Watson, Clare, Pinese, Mark, Cowley, Mark, Rooman, Ilse, Pajic, Marina, Butturini, Giovanni, Malpaga, Anna, Corbo, Vincenzo, Crippa, Stefano, Falconi, Massimo, Zamboni, Guiseppe, Castelli, Paola, APGI, Lawlor, Rita T., Gill, Anthony J., Scarpa, Aldo, Pearson, John V., Biankin, Andrew V. and Grimmond, Sean M. (2014) Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling. International Journal of Cancer, 2014 5: 1110-1118. doi:10.1002/ijc.28765 51   1 3
Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid and Ellard, Sian (2011) Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. Journal of Clinical Endocrinology and Metabolism, 96 3: E498-E502. doi:10.1210/jc.2010-1906 44   16 Cited 18 times in Scopus18 0
Nones, Katia, Waddell, Nicola, Wayte, Nicci, Patch, Ann-Marie, Bailey, Peter, Newell, Felicity, Holmes, Oliver, Fink, J. Lynn, Quinn, Michael C. J., Tang, Yue Hang, Lampe, Guy, Quek, Kelly, Loffler, Kelly A., Manning, Suzanne, Idrisoglu, Senel, Miller, David, Xu, Qinying, Waddell, Nick, Wilson, Peter J., Bruxner, Timothy J. C., Christ, Angelika N., Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Anderson, Matthew, Kazakoff, Stephen, Leonard, Conrad, Wood, Scott, Simpson, Peter T., Reid, Lynne E., Krause, Lutz, Hussey, Damian J., Watson, David I., Lord, Reginald V., Nancarrow, Derek, Phillips, Wayne A., Gotely, David, Smithers, B. Mark, Whiteman, David C., Hayward, Nicholas K., Campbell, Peter J., Pearson, John V., Grimmond, Sean M. and Barbour, Andrew P. (2014) Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. Nature Communications, 5 5224.1-5224.9. doi:10.1038/ncomms6224 25   0 27
Minton, Jal, Rubio-Cabezas, O, Patch, AM, Flanagan, SF, Edghill, E, Hussain, K, Hattersley, AT and Ellard, S (2009). Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S90-S90). Aug 31-Sep 02, 2009. 26   0
De Wet, Heidi, Rees, Mathew G., Shimomura, Kenju, Aittoniemi, Jussi, Patch, Ann-Marie, Flanagan, Sarah E., Ellard, Sian, Hattersley, Andrew T., Sansom, Mark S. P. and Ashcroft, Frances M. (2007) Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proceedings of the National Academy of Sciences of the United States of America, 104 48: 18988-18992. doi:10.1073/pnas.0707428104 36   26 Cited 29 times in Scopus29 0
Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, Below, Jennifer E., Hayes, M. Geoffrey, Cox, Nancy J., Lipkind, Gregory M., Lipton, Rebecca B., Greeley, Siri Atma W., Patch, Ann-Marie, Ellard, Sian, Steiner, Donald F., Hattersley, Andrew T., Philipson, Louis H. and Bell, Graeme I. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proceedings of the National Academy of Sciences of USA, 104 38: 15040-15044. doi:10.1073/pnas.0707291104 37   190 Cited 219 times in Scopus219 0
Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2008) Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57 4: 1034-1042. doi:10.2337/db07-1405 49   125 Cited 144 times in Scopus144 0
Hanley, Karen Piper, Hearn, Tom, Berry, Andrew, Carvell, Melanie J., Patch, Ann-Marie, Williams, Louise J., Sugden, Sarah A., Wilson, David I., Ellard, Sian and Hanley, Neil A. (2010) In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. Journal of Endocrinology, 207 2: 151-161. doi:10.1677/JOE-10-0120 32   7 Cited 8 times in Scopus8 0
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J. G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, Shield, Julian P. H., Temple, Karen, Ellard, Sian and Hattersley, Andrew T. (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56 7: 1930-1937. doi:10.2337/db07-0043 34   132 Cited 152 times in Scopus152 0
Flanagan, S. E., Patch, A. M., Mackay, D. J. G., Edghill, E. L., Gloyn, A. L., Robinson, D., Shield, J. P. H., Temple, K., Ellard, S. and Hattersley, A. T. (2008) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). Diabetes, 57 2: 523-523. doi:10.2337/db08-er02 43   4 Cited 0 times in Scopus0 0
Patch, A. M., Flanagan, S. E., Boustred, C., Hattersley, A. T. and Ellard, S. (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. In: Eighth Servier-IGIS Symposium: Animal Models of Islet Dysfunction. 8th Servier-IGIS Symposium: Animal Models of Islet Dysfunction, Saint Jean Cap Ferrat, France, (28-39). 8-11 March 2007. doi:10.1111/j.1463-1326.2007.00772.x 35   22 Cited 36 times in Scopus36 0
Klupa, T., Kowalska, I., Wyka, K., Skupien, J., Patch, A.-M., Flanagan, S. E., Noczynska, A., Arciszewska, M., Ellard, S., Hattersley, A. T., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2009) Mutations in the ABCC8 (SUR1 subunit of the K-ATP channel) gene are associated with a variable clinical phenotype. Clinical Endocrinology, 71 3: 358-362. doi:10.1111/j.1365-2265.2008.03478.x 31   16 Cited 17 times in Scopus17 0
Barbarini, D. S., Haslinger, V., Schmidt, K., Patch, A. M., Muller, G. and Simma, B. (2009) Neonatal diabetes mellitus due to pancreas agenesis: A new case report and review of the literature. Pediatric Diabetes, 10 7: 487-491. doi:10.1111/j.1399-5448.2009.00523.x 30   1 Cited 3 times in Scopus3 0
Dimitri, P., Warner, J. T., Minton, J. A. L, Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K. and Gregory, J. W. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype. European Journal of Endocrinology, 164 3: 437-443. doi:10.1530/EJE-10-0893 26   11 Cited 13 times in Scopus13 0
Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Gingras, Marie-Claude, Muthuswamy, Lakshmi B., Johns, Amber L., Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Wu, Jianmin, Chang, David K., Cowley, Mark J., Gardiner, Brooke B., Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Pajic, Marina, Scarlett, Christopher J., Gill, Anthony J., Pinho, Andreia V., Rooman, Ilse, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Kolle, Gabriel, Newell, Felicity, Pinese, Mark, Mead, R. Scott, Humphris, Jeremy L., Kaplan, Warren, Jones, Marc D., Colvin, Emily K., Nagrial, Adnan M., Humphrey, Emily S., Chou, Angela, Chin, Venessa T., Chantrill, Lorraine A., Mawson, Amanda, Samra, Jaswinder S., Kench, James G., Lovell, Jessica A., Daly, Roger J., Merrett, Neil D., Toon, Christopher, Epari, Krishna, Nguyen, Nam Q., Barbour, Andrew, Zeps, Nikolajs, Australian Pancreatic Cancer Genome Initiative, Pearson, John V. and Grimmond, Sean M. (2012) Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature, 491 7424: 399-405. doi:10.1038/nature11547 200   207 Cited 202 times in Scopus202 100
Rubio-Cabezas, Oscar, Puri, Vishwajeet, Murano, Incoronata, Saudek, Vladimir, Semple, Robert K., Dash, Satya, Hyden, Caroline S. S., Bottomley, William, Vigouroux, Corinne, Magre, Jocelyne, Raymond-Barker, Philippa, Murgatroyd, Peter R., Chawla, Anil, Skepper, Jeremy N., Chatterjee, V. Krishna, Suliman, Sara, LD Screening Consortium, Patch, Ann-Marie, Agarwal, Anil K., Garg, Abhimanyu, Barroso, Ines, Cinti, Saverio, Czech, Michael P., Argente, Jesus, O'Rahilly, Stephen and Savage, David B. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine, 1 5: 280-287. doi:10.1002/emmm.200900037 70   65 Cited 76 times in Scopus76 0
Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J. G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Sheild, Julian P. H., Hattersley, Andrew T. and Ashcroft, Frances M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81 2: 375-382. doi:10.1086/519174 50   74 Cited 89 times in Scopus89 0
Slingerland, AS, Flanagan, SE, Shields, B, Patch, AM, Bruining, GJ, Noordam, K, Cinek, O, Malecki, M, Gach, A, Mlynarski, W, Sumnik, Z, Dzivite, I, Ellard, SE and Hattersley, AT (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S34-S34). Sep 18-21, 2007. 44   0
Edghill, E. L., Locke, J., Flanagan, S. E., Patch, A. M., Harries, L. W., Ellard, S. and Hattersley, A. T. (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S104-S104). 8-11 September 2008. doi:10.1007/s00125-008-1117-6 27   2 0
Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O'Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Neonatal Diabetes International Group, Johnstone, Karen, Flanagan, Sarah E., Martinez, Rosa, Castano, Carlos, Patch, Ann-Marie, Fernandez-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castano, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez and Hattersley, Andrew T. (2010) Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the USA, 107 7: 3105-3110. doi:10.1073/pnas.0910533107 76   49 Cited 55 times in Scopus55 1
Shaw-Smith, Charles, Flanagan, Sarah E., Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M., Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T. and Ellard, Sian (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13 4: 307-314. doi:10.1111/j.1399-5448.2012.00855.x 30   0 Cited 5 times in Scopus5 0
Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y., Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Vanden Eijnden, Serge, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersely, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin and German, Michael S. (2010) Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463 7282: 775-780. doi:10.1038/nature08748 52   89 Cited 95 times in Scopus95 1
Mann, Karen M., Ward, Jerrold M., Yew, Christopher Chin Kuan, Kovochich, Anne, Dawson, David W., Black, Michael A., Brett, Benjamin T., Sheetz, Benjamin T., Dupuy, Adam J., Chang, David K., Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Grimmond, Sean M., Rust, Alistair G., Adams, David J., Jenkins, Nancy A., Copeland, Neal G., Australian Pancreatic Cancer Genome Initiative, Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Newell, Felicity and Pearson, John V. (2012) Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma. Proceedings of the National Academy of Sciences of the United States of America, 109 16: 5934-5941. doi:10.1073/pnas.1202490109 100   44 Cited 49 times in Scopus49 9
Kassahn, Karin S., Holmes, Oliver, Nones, Katia, Patch, Ann-Marie, Miller, David K., Christ, Angelika K., Harliwong, Ivon, Bruxner, Timothy J., Xu, Qinying, Anderson, Matthew, Wood, Scott, Leonard, Conrad, Taylor, Darrin, Newell, Felicity, Song, Sarah, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Steptoe, Anita, Pajic, Marina, Cowley, Mark J., Pinese, Mark, Chang, David K., Gill, Anthony J., Johns, Amber L., Wu, Jianmin, Wilson, Peter J., Fink, Lynn, Biankin, Andrew V., Waddell, Nicola, Grimmond, Sean M. and Pearson, John V. (2013) Somatic point mutation calling in low cellularity tumors. PloS One, 8 11: e74380.1-e74380.10. doi:10.1371/journal.pone.0074380 66   1 Cited 1 times in Scopus1 2
Klupa, T, Gach, A, Patch, AM, Skupien, J, Pietrzak, I, Ellard, S, Hattersley, A, Mlynarski, W, Malecki, MT and Sieradzki, J (2007). The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S124-S124). Sep 18-21, 2007. 23   0
Boby, T., Patch, A.-M. and Aves, S. J. (2005) TRbase: a database relating tandem repeats to disease genes for the human genome. Bioinformatics, 21 6: 811-816. doi:10.1093/bioinformatics/bti059 23   24 Cited 27 times in Scopus27 0
Flanagan, Sarah E., Patch, Ann-Marie and Ellard, Sian (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genetic Testing and Molecular Biomarkers, 14 4: 533-537. doi:10.1089/gtmb.2010.0036 142   58 Cited 62 times in Scopus62 0
Klupa, T., Kowalska, I., Wyka, K., Patch, A. M., Skupien, J., Noczynska, A., Ellard, S., Hattersley, A., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2008). Variable clinical picture of mutations in the ABCC8 gene: can it be modified by the sensitivity to insulin or the islet-specific antibodies?. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S121-S121). 8-11 September 2008. doi:10.1007/s00125-008-1117-6 29   0 0
Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2009) Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. The Journal of Clinical Endocrinology and Metabolism, 94 11: 4162-4170. doi:10.1210/jc.2009-1137 58   35 Cited 36 times in Scopus36 0