Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients von Docherty, L. E., Kabwama, S., Lehmann, A., Hawke, E., Harrison, L., Flanagan, S. E., Ellard, S., Hattersley, A. T., Shield, J. P. H., Ennis, S., Mackay, D. J. G., Temple, I. K.

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Recent Advances in Imprinting Disorders von Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.

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Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carr... von Lachlan, K L, Lucassen, A M, Bunyan, D, Temple, I K

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Prematurity and Genetic Testing for Neonatal Diabetes von Besser, Rachel E J, Flanagan, Sarah E, Mackay, Deborah G J, Temple, I K, Shepherd, Maggie H, Shields, Beverley M, Ellard, Sian, Hattersley, Andrew T

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Transient neonatal diabetes, a disorder of imprinting von Temple, I K, Shield, J P H

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes von Gribble, S M, Prigmore, E, Burford, D C, Porter, K M, Ng, Bee Ling, Douglas, E J, Fiegler, H, Carr, P, Kalaitzopoulos, D, Clegg, S, Sandstrom, R, Temple, I K, Youings, S A, Thomas, N S, Dennis, N R, Jacobs, P A, Crolla, J A, Carter, N P

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Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes von TEMPLE, I. K, GARDNER, R. J, MACKAY, D. J. G, BARBER, J. C. K, ROBINSON, D. O, SHIELD, J. P. H

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Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome von Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, Raoul C M

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Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes von Docherty, L. E, Poole, R. L, Mattocks, C. J, Lehmann, A, Temple, I. K, Mackay, D. J. G

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Large-scale discovery of novel genetic causes of developmental disorders von van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 von Temple, I K, Shrubb, V, Lever, M, Bullman, H, Mackay, D J G

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Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14 von Naik, S, Temple, I K

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome von Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Chandler, K, Clarke, A, Collins, A, Davies, S, Faravelli, F, Firth, H, Garrett, C, Hughes, H, Kerr, B, Liebelt, J, Reardon, W, Schaefer, G B, Splitt, M, Temple, I K, Waggoner, D, Weaver, D D, Wilson, L, Cole, T, Cormier-Daire, V, Irrthum, A, Rahman, N

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Epigenotype–phenotype correlations in Silver–Russell syndrome von Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M

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Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect von Brouillard, P, Ghassibé, M, Penington, A, Boon, L M, Dompmartin, A, Temple, I K, Cordisco, M, Adams, D, Piette, F, Harper, J I, Syed, S, Boralevi, F, Taïeb, A, Danda, S, Baselga, E, Enjolras, O, Mulliken, J B, Vikkula, M

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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus von MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H

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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients von Jedraszak, Guillaume, Demeer, Bénédicte, Mathieu-Dramard, Michèle, Andrieux, Joris, Receveur, Aline, Weber, Astrid, Maye, Una, Foulds, Nicola, Temple, IK, Crolla, John, Alex-Cordier, Marie-Pierre, Sanlaville, Damien, Ewans, Lisa, Wilson, Meredith, Armstrong, Ruth, Clarkson, Amanda, Copin, Henri, Morin, Gilles

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Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome von Zweier, C, Temple, I K, Beemer, F, Zackai, E, Lerman-Sagie, T, Weschke, B, Anderson, C E, Rauch, A

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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus von MACKAY, D. J. G, BOONEN, S. E, SHIELD, J. P. H, WHITE, H. E, TEMPLE, I. K, CLAYTON-SMITH, J, GOODSHIP, J, HAHNEMANN, J. M. D, KANT, S. G, NJOLSTAD, P. R, ROBIN, N. H, ROBINSON, D. O, SIEBERT, R

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Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus von MACKAY, D. J. G, COUPE, A.-M, SHIELD, J. P. H, STORR, J. N. P, TEMPLE, I. K, ROBINSON, D. O

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