Expanding the genotypic spectrum of Perrault syndrome von Demain, L.A.M., Urquhart, J.E., O'Sullivan, J., Williams, S.G., Bhaskar, S.S., Jenkinson, E.M., Lourenco, C.M., Heiberg, A., Pearce, S.H., Shalev, S.A., Yue, W.W., Mackinnon, S., Munro, K.J., Newbury‐Ecob, R., Becker, K., Kim, M.J., O' Keefe, R.T., Newman, W.G.

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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth von Steward, C. G., Newbury-Ecob, R. A., Hastings, R., Smithson, S. F., Tsai-Goodman, B., Quarrell, O. W., Kulik, W., Wanders, R., Pennock, M., Williams, M., Cresswell, J. L., Gonzalez, I. L., Brennan, P.

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients von Archer, H L, Evans, J, Edwards, S, Colley, J, Newbury-Ecob, R, O’Callaghan, F, Huyton, M, O’Regan, M, Tolmie, J, Sampson, J, Clarke, A, Osborne, J

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De novo variants in CNOT3 cause a variable neurodevelopmental disorder von Martin, R, Splitt, M, Genevieve, D, Aten, E, Collins, A, de Bie, C I, Faivre, L, Foulds, N, Giltay, J, Ibitoye, R, Joss, S, Kennedy, J, Kerr, B, Kivuva, E, Koopmans, M, Newbury-Ecob, R, Jean-Marçais, N, Peeters, E A J, Smithson, S, Tomkins, S, Tranmauthem, F, Piton, A, van Haeringen, A

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Thrombocytopenia-absent radius syndrome: a clinical genetic study von Greenhalgh, K L, Howell, R T, Bottani, A, Ancliff, P J, Brunner, H G, Verschuuren-Bemelmans, C C, Vernon, E, Brown, K W, Newbury-Ecob, R A

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Earlier recovery of platelet function after discontinuation of treatment with ticagrelor compared with clopidogrel in patients with high antiplatelet responses von STOREY, R. F., BLIDEN, K. P., ECOB, R., KARUNAKARAN, A., BUTLER, K., WEI, C., TANTRY, U., GURBEL, P. A.

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Early growth and type 2 diabetes: evidence from the 1946 British birth cohort von Wadsworth, M, Butterworth, S, Marmot, M, Ecob, R, Hardy, R

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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, an... von Kohlhase, J, Schubert, L, Liebers, M, Rauch, A, Becker, K, Mohammed, S N, Newbury-Ecob, R, Reardon, W

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Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family von QUAN YI LI, NEWBURY-ECOB, R. A, BONNET, D, LYONNET, S, YOUNG, I. D, RAEBURN, J. A, BUCKLER, A. J, LAW, D. J, DAVID BROOK, J, TERRETT, J. A, WILSON, D. I, CURTIS, A. R. J, CHEONG HO YI, GEBUHR, T, BULLEN, P. J, ROBSON, S. C, STRACHAN, T

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation von van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.

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Holt-Oram syndrome: a clinical genetic study von Newbury-Ecob, R A, Leanage, R, Raeburn, J A, Young, I D

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome von Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome von Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.

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Bedsharing, Roomsharing, and Sudden Infant Death Syndrome in Scotland: A Case-control Study von Tappin, David, Ecob, Russell, Brooke, Hazel

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The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy von Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C G

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype von Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Kury, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

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Genetic analysis of the G4.5 gene in families with suspected Barth syndrome von Cantlay, Ann M., Shokrollahi, Kayvan, Allen, John T., Lunt, Peter W., Newbury-Ecob, Ruth A., Steward, Colin G.

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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy von Toomes, C, Marchbank, N J, Mackey, D A, Craig, J E, Newbury-Ecob, R A, Bennett, C P, Vize, C J, Desai, S P, Black, G C, Patel, N, Teimory, M, Markham, A F, Inglehearn, C F, Churchill, A J

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Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy von KYNDT, Florence, GUEFFET, Jean-Pierre, NEWBURY-ECOB, Ruth, TRAN, Vinh, YOUNG, Ian, TROCHU, Jean-Noël, LE MAREC, Hervé, SCHOTT, Jean-Jacques, PROBST, Vincent, JAAFAR, Philippe, LEGENDRE, Antoine, LE BOUFFANT, Francoise, TOQUET, Claire, ROY, Estelle, MCGREGOR, Lesley, LYNCH, Sally Ann

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans von Newbury-Ecob, Ruth, Shears, Deborah J, Sutherland-Smith, Andrew J, Wilkie, Andrew O.M, Ørstavik, Karen H, Robertson, Stephen P, Horn, Denise, Quarrell, Oliver W.J, Gorlin, Robert J, Kenwrick, Susan J, Suri, Mohnish, Twigg, Stephen R.F, Biancalana, Valérie, Kim, Chong A, Schwartz, Charles E, Kendrick-Jones, John, Morava, Eva

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