Browse by Divisions pre August 2011

Asby, Daniel J., Arlt, Wiebke and Hanley, Neil A. (2009) The adrenal cortex and sexual differentiation during early human development. Reviews in Endocrine & Metabolic Disorders, 10, (1), 43-49. (doi:10.1007/s11154-008-9098-9).

Balasubramanian, Meena, Barber, John C.K., Collinson, Morag N., Huang, Shuwen, Maloney, Viv K., Bunyan, Dave and Foulds, Nicki (2009) Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. American Journal of Medical Genetics Part A, 149A, (4), 793-797. (doi:10.1002/ajmg.a.32463).

Baralle, Diana, Lucassen, Anneke and Buratti, Emanuele (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. Embo Reports, 10, (8), 810-816. (doi:10.1038/embor.2009.170).

Barry, Seán P., Townsend, Paul A., McCormick, James, Knight, Richard A., Scarabelli, Tiziano M., Latchman, David S. and Stephanou, Anastasis (2009) STAT3 deletion sensitizes cells to oxidative stress. Biochemical and Biophysical Research Communications, 385, (3), 324-329. (doi:10.1016/j.bbrc.2009.05.051).

Barton, Sheila J., Koppelman, Gerard H., Vonk, Judith M., Browning, Claudia A., Nolte, Ilja M., Stewart, Ceri E., Bainbridge, Sue, Mutch, Stacey, Rose-Zerilli, Matthew J., Postma, Dirkje S., Maniatis, Nikolas, Henry, Amanda P., Hall, Ian P., Holgate, Stephen T., Tighe, Patrick, Holloway, John W. and Sayers, Ian (2009) PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline. The Journal of Allergy and Clinical Immunology, 123, (6), 1391-1400. (doi:10.1016/j.jaci.2009.03.014).

Beer, Phillip A., Jones, Amy V., Bench, Anthony J., Goday-Fernandez, Andrea, Boyd, ElaineM., Vaghela, Krishna J., Erber, Wendy N., Odeh, Bassam, Wright, Christine, McMullin, Mary Frances, Cullis, Jonathan, Huntly, Brian J.P., Harrison, Claire N., Cross, Nicholas C.P. and Green, Anthony R. (2009) Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. British Journal of Haematology, 144, (6), 904-908. (doi:10.1111/j.1365-2141.2008.07560.x).

Benko, Sabina, Fantes, Judy A., Amiel, Judy A., Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, Jamshidi, Negar, Essafi, Abdelkader, Heaney, Simon, Gordon, Christopher T., McBride, David, Golzio, Christelle, Fisher, Malcolm, Perry, Paul, Abadie, Véronique, Ayuso, Carmen, Holder-Espinasse, Muriel, Kilpatrick, Nicky, Lees, Melissa M., Picard, Arnaud, Temple, I. Karen, Thomas, Paul, Vazquez, Marie-Paule, Vekemans, Michel, Crollius, Hugues Roest, Hastie, Nicholas D., Munnich, Arnold, Etchevers, Heather C, Pelet, Anna, Farlie, Peter G., FitzPatrick, David R. and Lyonnet, Stanislas (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics, 41, (3), 359-364. (doi:10.1038/ng.329).

Beraza, Naiara, Malato, Yann, Sander, Leif E., Al-Masaoudi, Malika, Freimuth, Julia, Riethmacher, Dieter, Gores, Gregory J., Roskams, Tania, Liedtke, Christian and Trautwein, Christian (2009) Hepatocyte-specific NEMO deletion promotes NK/NKT cell- and TRAIL-dependent liver damage. Journal of Experimental Medicine, 206, (8), 1727-1737. (doi:10.1084/jem.20082152).

Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen and Toriello, Helga (2009) Elements of morphology: standard terminology for the hands and feet. American Journal of Medical Genetics Part A, 149A, (1), 93-127. (doi:10.1002/ajmg.a.32596).

Black, S., Teixeira, A.S., Loh, A.X.W., Vinall, L., Holloway, J.W., Hardy, R. and Swallow, D.M. (2009) Contribution of functional variation in the IL13 gene to allergy, hay fever and asthma in the NSHD longitudinal 1946 birth cohort. Allergy, 64, (8), 1172-1178. (doi:10.1111/j.1398-9995.2009.01988.x).

Bliek, Jet, Alders, Marielle, Maas, Saskia M., Oostra, Roelof-Jan, Mackay, Deborah M., van der Lip, Karin, Callaway, Johnatan L., Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J. and Mannens, Marcel M.A.M. (2009) Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. European Journal of Human Genetics, 17, (12), 1625-1634. (doi:10.1038/ejhg.2009.77).

Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M., De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paolo, Cubellis, Mara Vittoria, Larizza, Lidia, Temple, I. Karen, Mannens, Marcel M.A.M., Mackay, Deborah J.G. and Riccio, Andrea (2009) Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 17, (5), 611-619. (doi:10.1038/ejhg.2008.233).

Burke, G., Hammans, S., Arunachalam, R. and Beeson, D. (2009) A treatable muscle disease. Practical Neurology, 9, (4), 233-236. (doi:10.1136/jnnp.2009.181966).

Castori, Marco, Barboni, Luanna, Duncan, Phillipa J., Paradisi, Mauro, Laino, Luigi, Bernardo, Carmelilia, Robinson, David O. and Grammatico, Paolo (2009) Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. American Journal of Medical Genetics Part A, 149A, (8), 1768-1772. (doi:10.1002/ajmg.a.32960).

Chase, A., Schultheis, B., Kreil, S., Baxter, J., Hidalgo-Curtis, C., Jones, A., Zhang, L., Grand, F.H., Melo, J.V. and Cross, N.C. (2009) Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. Leukemia, 23, (2), 358-364. (doi:10.1038/leu.2008.295).

Chiecchio, Laura, Dagrada, Gian Paolo, Ibrahim, Aahraf H., Dachs Cabanas, Elizabet, Protheroe, Rebbeca K.M., Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. on behalf of the UK Myeloma Forum (2009) Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context. Haematologica, 94, (12), 1708-1713. (doi:10.3324/haematol.2009.011064).

Chiecchio, Laura, Dagrada, Gian Paolo, White, Helen E., Townsend, Mark R., Protheroe, Rebecca K.M., Cheung, Kan Luk, Stockley, David M., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. UK Myloma Forum (2009) Frequent upregulation of MYC in plasma cell leukemia. Genes Chromosomes Cancer, 48, (7), 624-636. (doi:10.1002/gcc.20670).

Churbanov, Alexander, Vořechovský, Igor and Hicks, Chindo (2009) Computational prediction of splicing regulatory elements shared by Tetrapoda organisms. BMC Genomics, 10, 508. (doi:10.1186/1471-2164-10-508).

Collins, A. (2009) Approaches to the identification of susceptibility genes. Parasite Immunology, 31, (5), 225-233. (doi:10.1111/j.1365-3024.2008.01089.x).

Collins, Andrew (2009) Allelic association: linkage disequilibrium structure and gene mapping. Molecular Biotechnology, 41, (1), 83-89. (doi:10.1007/s12033-008-9110-3).

Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony and Wilson, David I. (2009) Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clinical Dysmorphology, 18, (2), 98-102. (doi:10.1097/MCD.0b013e3283202a1f).

Cross, N.C.P., Daley, G.Q., Green, A.R., Hughes, T.P., Jamieson, C., Manley, P., Mughal, T., Perrotti, D., Radich, J., Skoda, R., Soverini, S., Vainchenker, W., Verstovsek, S., Villeval, J.-L. and Goldman, J.M. (2009) BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features. Leukemia, 22, (11), 1975-1989. (doi:10.1038/leu.2008.231).

Cross, Nicholas C.P. (2009) Standardisation of molecular monitoring for chronic myeloid leukaemia. Best Practice and Research. Clinical Haematology, 22, (3), 355-365. (doi:10.1016/j.beha.2009.04.001).

Dahabreh, Issa J., Jones, Amy V., Voulgarelis, Michael, Giannouli, Stavroula, Zoi, Christine, Alafakis-Tzannatos, Christina, Varla-Leftherioti, Marighoula, Moutsopoulos, Haralampous, Loukopoulos, Dimitris, Fotiou, Stelios, Cross, Nicholas C.P. and Zoi, Katerina (2009) No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. British Journal of Haematology, 144, (5), 802-803. (doi:10.1111/j.1365-2141.2008.07510.x).

Davidson, Sean M., Rybka, Aneta E. and Townsend, Paul A. (2009) The powerful cardioprotective effects of urocortin and the corticotropin releasing hormone (CRH) family. Biochemical Pharmacology, 77, (2), 141-150. (doi:10.1016/j.bcp.2008.08.033).

Divina, Petr, Kvitkovicova, Andrea, Buratti, Emanuele and Vorechovsky, Igor (2009) Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. European Journal of Human Genetics, 17, (6), 759-765. (doi:10.1038/ejhg.2008.257).

Dolk, H., Jentink, J., Loane, M., Morris, J., de Jong-van den Berg, L.T., Calzolari, E., Barisic, I., Wellesley, D., Garne, E., De Vigan, C., de Walle, H., Bakker, M., Gatt, M., Melve, K.K., O'Mahony, M., Nelen, V., Gillerot, Y., Rivieri, F., Pierini, A., Queisser-Luft, A., Poetzsch, S., Tucker, D., Portillo, I., Latos-Bielenska, A., Mejnartowicz, J., Doray, B. and Addor, M.C. EUROCAT Antiepileptic Drug Working Group (2009) Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? Neurology, 71, (10), 714-722. (doi:10.1212/01.wnl.0000316194.98475.d8). (PMID:18650491).

Draper, Elizabeth S., Rankin, Judith, Tonks, Ann, Boyd, Patricia, Wellesley, Diana, Tucker, David and Budd, Judith BINOCAR Management Committee (2009) Congenital abnormalities: data needed to establish causes. British Medical Journal, 339, b3428. (doi:10.1136/bmj.b3428).

Edwards, Emma, Yearwood, Catharina, Sillibourne, Julie, Baralle, Diana and Eccles, Diana (2009) Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Familial Cancer, 8, (4), 479-482. (doi:10.1007/s10689-009-9270-8).

Gestri, Gaia, Osborne, Robert J., Wyatt, Alexander W., Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J., Prescott, Katrina, Collin, J. Richard O., Fitzgerald, Tomas, Robinson, David, Carter, Nigel P., Wilson, Stephen W. and Ragge, Nicola K. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Human Genetics, 126, (6), 791-803. (doi:10.1007/s00439-009-0730-x).

Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen and Robinson, David O. (2009) Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney International, 75, (4), 415-419. (doi:10.1038/ki.2008.573).

Gill, Harinder K., Parsons, Sian R., Spalluto, Cosma, Davies, AngelaF., Knorz, Victoria J., Burlinson, Clare E.G., Ng, Bee Ling, Carter, Nigel P., Ogilvie, Caroline Makie, Wilson, David I. and Roberts, Roland G. (2009) Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. European Journal of Human Genetics, 17, (11), 1423-1431. (doi:10.1038/ejhg.2009.91).

Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K., Thomas, N. Simon, Bunyan, David J., Jackson, A. and Barber, John C.K. (2009) Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. European Journal of Human Genetics, 17, (1), 37-43. (doi:10.1038/ejhg.2008.133).

Grand, Francis H., Hidalgo-Curtis, Claire E., Ernst, Thomas, Zoi, Katerina, Zoi, Chistine, McGuire, Carolann, Kreil, Sebastian, Jones, Amy, Score, Joannah, Metzgeroth, Georgia, Oscier, David, Hall, Andrew, Brandts, Christian, Serve, Hubert, Reiter, Andrew, Chase, Andrew J. and Cross, Nicholas C.P. (2009) Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood, 113, (24), 6182-6192. (doi:10.1182/blood-2008-12-194548).

Haitchi, H.M., Yoshisue, H., Ribbene, A., Wilson, S.J., Holloway, J.W., Bucchieri, F., Hanley, N.A., Wilson, D.I., Zummo, G., Holgate, S.T. and Davies, D.E. (2009) Chronological expression of ciliated bronchial epithelium 1 during pulmonary development. European Respiratory Journal, 33, (5), 1095-1104. (doi:10.1183/09031936.00157108).

Haitchi, Hans Michael, Bassett, David J.P., Bucchieri, Fabio, Gao, Xiufeng, Powell, Robert M., Hanley, Neil A., Wilson, David I., Holgate, Stephen T. and Davies, Donna E. (2009) Induction of a disintegrin and metalloprotease 33 during embryonic lung development and the influence of IL-13 or maternal allergy. Journal of Allergy and Clinical Immunology, 124, (3), 590-597.e11. (doi:10.1016/j.jaci.2009.06.026).

Hidalgo-Curtis, Claire (2009) Abnormalities affecting tyrosine kinase signalling in atypical myeloproliferative disorders. University of Southampton, School of Medicine, Doctoral Thesis , 389pp.

Jones, Amy V., Chase, Andrew, Silver, Richard T., Oscier, David, Zoi, Katerina, Wang, Y. Lynn, Cario, Holger, Pahl, Heike L., Collins, Andrew, Reiter, Andreas, Grand, Francis and Cross, Nicholas C.P. (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nature Genetics, 41, (4), 446-449. (doi:10.1038/ng.334).

Kenny, Alan P., Crimmins, Nancy A., Mackay, Deborah J.G., Hopkin, Robert J., Bove, Kevin E. and Leonis, Mike A. (2009) Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatric and Developmental Pathology, 12, (5), 417-420. (doi:10.2350/09-03-0628-CR.1).

Kim, S.H., Ye, Y.M., Hur, G.Y., Lee, H.Y., Jee, Y.K., Lee, S.H., Holloway, J.W. and Park, H.S. (2009) Effect of beta2-adrenergic receptor polymorphism in asthma control of patients receiving combination treatment. Yonsei Medical Journal, 50, (2), 182-188. (doi:10.3349/ymj.2009.50.2.182).

Kleefstra, T., van Zelst-Stams, W.A., Nillesen, W.M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M.H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M.P., Innes, M., Davies, C., Gonzalez-Meneses Lopez, A., Casalone, R., Weber, A., Brueton, L.A., Delicado Navarro, A., Palomares Bralo, M., Venselaar, H., Stegmann, S.P.A., Yntema, H.G., van Bokhoven, H. and Brunner, H.G. (2009) Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46, (9), 598-606. (doi:10.1136/jmg.2008.062950).

Koppelman, Gerard H., Meyers, Deborah A., Howard, Timothy D., Zheng, S. Lilly, Hawkins, Greg A., Ampleford, Elizabeth J., Xu, Jianfeng, Koning, Henk, Bruinenberg, Marcel, Nolte, Ilja M., van Diemen, Cleo C., Boezen, H. Marike, Timens, Wim, Whittaker, Paul A., Stine, O. Colin, Barton, Sheila J., Holloway, John W., Holgate, Stephen T., Graves, Penelope E., Martinez, Fernando D., van Oosterhout, Antoon J., Bleecker, Eugene R. and Postma, Dirkje S. (2009) Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness. American Journal of Respiratory and Critical Care Medicine, 180, (10), 929-935. (doi:10.1164/rccm.200810-1621OC). (PMID:19729670).

Kralovicova, Jana and Vorechovsky, Igor (2009) SERPING1 rs2511988 and age-related macular degeneration. Lancet, 373, (9662), 461-462. (doi:10.1016/50140-6736(09)60168-9).

Kreil, Sebastian, Hochhaus, Andreas, Cross, Nicholas C.P. and Chase, Andrew (2009) A high-throughput candidate gene mutation screen in lymphoproliferative and myeloproliferative neoplasias. Leukemia Research, 33, (9), e168-e169. (doi:10.1016/j.leukres.2009.04.015).

Krepischi-Santos, A.C.V., Rajan, D., Temple, I.K., Shrubb, V., Crolla, J.A., Huang, S., Beal, S., Otto, P.A., Carter, N.P., Vianna-Morgante, A.M. and Rosenberg, C. (2009) Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenetic and Genome Research, 125, (1), 1-7. (doi:10.1159/000218743).

Kuizon, Erlene, Pearce, Eve G., Bailey, Sarah G., Chen-Scarabelli, Carol, Yuan, Zhaokan, Abounit, Kadija, McCauley, Roy B., Saravolatz, Louis, Faggian, Giuseppe, Mazzucco, Alessandro, Townsend, Paul A. and Scarabelli, Tiziano M. (2009) Mechanisms of action and clinical implications of cardiac urocortin: A journey from the heart to the systemic circulation, with a stopover in the mitochondria. International Journal of Cardiology, 137, (3), 189-194. (doi:10.1016/j.ijcard.2009.03.112).

Labrum, R.W., Rajakulendran, S., Graves, T.D., Eunson, L.H., Bevan, R., Sweeney, M.G., Hammans, S.R., Tubridy, N., Britton, T., Carr, L.J., Ostergaard, J.R., Kennedy, C.R., Al-Memar, A., Kullmann, D.M., Schorge, S., Temple, I.K., Davis, M.B. and Hanna, M.G. (2009) Large-scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. Journal of Medical Genetics, 46, (11), 786-791. (doi:10.1136/jmg.2009.067967).

Lindgren, C.M., Heid, I.M., Randall, J.C., Lamina, C., Steinthorsdottir, V., Qi, L., Speliotes, E.K., Thorleifsson, G., Willer, C.J., Herrera, B.M., Jackson, A.U., Lim, N., Scheet, P., Soranzo, N., Amin, N., Aulchenko, Y.S., Chambers, J.C., Drong, A., Luan, J., Lyon, H.N., Rivadeneira, F., Sanna, S., Timpson, N.J., Zillikens, M.C., Zhao, J.H., Almgren, P., Bandinelli, S., Bennett, A.J., Bergman, R.N., Bonnycastle, L.L., Bumpstead, S.J., Chanock, S.J., Cherkas, L., Chines, P., Coin, L., Cooper, C., Crawford, G., Doering, A., Dominiczak, A., Doney, A.S., Ebrahim, S., Elliott, P., Erdos, M.R., Estrada, K., Ferrucci, L., Fischer, G., Forouhi, N.G., Gieger, C., Grallert, H., Groves, C.J., Grundy, S., Guiducci, C., Hadley, D., Hamsten, A., Havulinna, A.S., Hofman, A., Holle, R., Holloway, J.W., Illig, T., Isomaa, B., Jacobs, L.C., Jameson, K., Jousilahti, P., Karpe, F., Kuusisto, J., Laitinen, J., Lathrop, G.M., Lawlor, D.A., Mangino, M., McArdle, W.L., Meitinger, T., Morken, M.A., Morris, A.P., Munroe, P., Narisu, N., Nordstrom, A., Nordstrom, P., Oostra, B.A., Palmer, C.N., Payne, F., Peden, J.F., Prokopenko, I., Renstrom, F., Ruokonen, A., Salomaa, V., Sandhu, M.S., Scott, L.J., Scuteri, A., Silander, K., Song, K., Yuan, X., Stringham, H.M., Swift, A.J., Tuomi, T., Uda, M., Vollenweider, P., Waeber, G., Wallace, C., Walters, G.B., Weedon, M.N., Witterman, J.C., Zhang, C., Zhang, W., Caulfield, M.J., Collins, F.S., Davey Smith, G., Day, I.N., Franks, P.W., Hattersley, A.T., Hu, F.B., Jarvelin, M.R., Kong, A., Kooner, J.S., Laakso, M., Lakatta, E., Mooser, V., Morris, A.D., Peltonen, L., Samani, N.J., Spector, T.D., Strachan, D.P., Tanaka, T., Tuomilehto, J., Uitterlinden, A.G., van Duijn, C.M., Wareham, N.J., Watkins, H., Waterworth, D.M., Boehnke, M., Deloukas, P., Groop, L., Hunter, D.J., Thorsteinsdottir, U., Schlessinger, D., Wichmann, H.E., Frayling, T.M., Abecasis, G.R., Hirschhorn, J.M., Loos, R.J., Stefansson, K., Mohlke, K.L., Barroso, I. and McCarthy, M.I. Wellcome Trust Case Control Consortium, Procardis Consortia and Giant Consortium (2009) Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genetics, 5, (6), e1000508-[13pp]. (doi:10.1371/journal.pgen.1000508).

Lotery, A.J., Cree, A.J., Stone, E.M. and Ennis, S. (2009) The SERPING1 gene and age-related macular degeneration – Authors' reply. Lancet, 374, (9693), 876-877. (doi:10.1016/S0140-6736(09)61619-6).

Maas, S.M., Lombardi, P.M., Van Essen, A.J., Wakeling, E.L., Castle, B., Temple, I.K., Kumar, V.K., Writzl, K. and Hennekam, R.C. (2009) Phenotype and genotype in 17 patients with Goltz-Gorlin Syndrome. Journal of Medical Genetics, 46, (10), 716-720. (doi:10.1136/jmg.2009.068403).

Malin, Dmitry, Sonnenberg-Riethmacher, Eva, Guseva, Daria, Wagener, Raimund, Aszódi, Attila, Irintchev, Andrey and Riethmacher, Dieter University of Southampton (2009) The extracellular-matrix protein matrilin 2 participates in peripheral nerve regeneration. Journal of Cell Science, 122, (7), 995-1004. (doi:10.1242/jcs.040378).

Meili, David, Kralovicova, Jana, Zagalak, Julian, Bonafe, Luisa, Fiori, Laura, Blau, Nenad, Thony, Beat and Vorechovsky, Igor (2009) Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30, (5), 823-831. (doi:10.1002/humu.20969).

Mercer, C.L., Browne, C.E., Barber, J.C.K., Maloney, V.K., Huang, S., Thomas, N.S. and Foulds, N. (2009) A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH. Cytogenetic and Genome Research, 124, (2), 179-186. (doi:10.1159/000207526).

Mirmalek-Sani, S.H., Stokes, P.J., Tare, R.S., Ralph, E.J., Inglis, S., Hanley, N.A., Houghton, F.D. and Oreffo, R.O. (2009) Derivation of a novel undifferentiated human fetal phenotype in serum-free cultures with BMP-2. Journal of Cellular and Molecular Medicine, 13, (9B), 3541-3555. (doi:10.1111/j.1582-4934.2009.00742.x).

Moon, Rebecca J., Mears, Alice, Kitteringham, Lara J., Gonda, Peter, Kohler, Janice A. and Davies, Justin H. (2009) Massive ovarian oedema: an unusual abdominal mass in infancy. Pediatric Blood and Cancer, 53, (2), 217-219. (doi:10.1002/pbc.22025).

Müller, M.C., Cross, N.C.P., Erben, P., Schenk, T., Hanfstein, B., Ernst, T., Hehlmann, R., Branford, S., Saglio, G. and Houchhaus, A. (2009) Harmonization of molecular monitoring of CML therapy in Europe. Leukemia, 23, (11), 1957-1963. (doi:10.1038/leu.2009.168).

Ozgen, H.M., van Daalen, E., Bolton, P.F., Maloney, V.K., Huang, S., Cresswell, L., van den Boogaard, M.J., Eleveld, M.J., van 't Slot, R., Hochstenbach, R., Beemer, F.A., Barrow, M., Barber, J.C.K. and Poot, M. (2009) Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clinical Genetics, 76, (4), 348-356. (doi:10.1111/j.1399-0004.2009.01254.x).

Ozgen, Heval M., Staal, Wouter G., Barber, John C., de Jonge, Maretha V., Eleveld, Marc J., Beemer, Frits A., Hochstenbach, Ron and Poot, Martin (2009) A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. Journal of Autism and Developmental Disorders, 39, (2), 322-329. (doi:10.1007/s10803-008-0627-x).

Pappachan, J.V., Coulson, T.G., Child, N.J.A., Markham, D.J., Nour, S.M., Pulletz, M.C.K., Rose-Zerilli, M.J., de Courcey-Golder, K., Barton, S.J., Yang, I.A. and Holloway, J.W. (2009) Mortality in adult intensive care patients with severe systemic inflammatory response symdroles is strongly associated with the hypoimmune TNF-238A polymorphism. Immunogenetics, 61, (10), 657-662. (doi:10.1007/s00251-009-0395-6).

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