230 results on '"PArtington, M."'
Search Results
2. Academic lawyers and legal practice in England : towards a new relationship.
- Author
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Partington, M.
- Published
- 1992
3. Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
- Author
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Turner, G, Boyle, J, Partington, M W, Kerr, B, Raymond, F L, and Gécz, J
- Published
- 2008
4. Familial colloid cysts of the third ventricle
- Author
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Partington, M W and Bookalil, A J
- Published
- 2004
5. Three new families with X-linked mental retardation caused by the 428–451 dup(24bp) mutation in ARX
- Author
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Partington, M W, Turner, G, Boyle, J, and Gécz, J
- Published
- 2004
6. The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations
- Author
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Turner, G, Lower, K M, White, S M, Delatycki, M, Lampe, A K, Wright, M, Clayton-Smith, J, Kerr, B, Schelley, S, Hoyme, H E, De Vries, B BA, Kleefstra, T, Grompe, M, Cox, B, Gecz, J, and Partington, M
- Published
- 2004
7. Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome
- Author
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Rogers, C, Partington, M W, and Turner, G M
- Published
- 2003
8. The role of the RAS pathway in iAMP21-ALL
- Author
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Ryan, S L, Matheson, E, Grossmann, V, Sinclair, P, Bashton, M, Schwab, C, Towers, W, Partington, M, Elliott, A, Minto, L, Richardson, S, Rahman, T, Keavney, B, Skinner, R, Bown, N, Haferlach, T, Vandenberghe, P, Haferlach, C, Santibanez-Koref, M, Moorman, A V, Kohlmann, A, Irving, J A E, and Harrison, C J
- Subjects
Chromosome Aberrations ,Cell Survival ,Chromosomes, Human, Pair 21 ,MAP Kinase Signaling System ,Sequence Analysis, DNA ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,Mice ,Mutation Rate ,Journal Article ,ras Proteins ,Animals ,Heterografts ,Humans ,Original Article ,Benzimidazoles - Abstract
Intrachromosomal amplification of chromosome 21 (iAMP21) identifies a high-risk subtype of acute lymphoblastic leukaemia (ALL), requiring intensive treatment to reduce their relapse risk. Improved understanding of the genomic landscape of iAMP21-ALL will ascertain whether these patients may benefit from targeted therapy. We performed whole-exome sequencing of eight iAMP21-ALL samples. The mutation rate was dramatically disparate between cases (average 24.9, range 5-51) and a large number of novel variants were identified, including frequent mutation of the RAS/MEK/ERK pathway. Targeted sequencing of a larger cohort revealed that 60% (25/42) of diagnostic iAMP21-ALL samples harboured 42 distinct RAS pathway mutations. High sequencing coverage demonstrated heterogeneity in the form of multiple RAS pathway mutations within the same sample and diverse variant allele frequencies (VAFs) (2-52%), similar to other subtypes of ALL. Constitutive RAS pathway activation was observed in iAMP21 samples that harboured mutations in the predominant clone (⩾35% VAF). Viable iAMP21 cells from primary xenografts showed reduced viability in response to the MEK1/2 inhibitor, selumetinib, in vitro. As clonal (⩾35% VAF) mutations were detected in 26% (11/42) of iAMP21-ALL, this evidence of response to RAS pathway inhibitors may offer the possibility to introduce targeted therapy to improve therapeutic efficacy in these high-risk patients.Leukemia advance online publication, 10 May 2016; doi:10.1038/leu.2016.80. ispartof: Leukemia vol:30 issue:9 pages:1824-1831 ispartof: location:England status: published
- Published
- 2016
9. Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families
- Author
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FAGAN, K, SOUBJAKI, V, DONALD, P, TURNER, G, and PARTINGTON, M
- Published
- 2000
10. Another dystonia
- Author
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PARTINGTON, M W
- Published
- 1998
11. Interrogating the unspoken
- Author
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Sowden, T, Mason, D, and Partington, M
- Subjects
NK ,NX ,NC - Abstract
Interrogating the Unspoken is a one-day provocation workshop, the aim of which is to identify the unspoken and intuited tacit knowledge of designers and makers. Collaboration with both people and materials is at the heart of the approach, as well as interrogating communication, assumptions and risk that are part of a making practice.\ud The objects that are made as part of this workshop will provide visual evidence of tacit knowledge, the breadth of approaches to design practice and critical enquiry through making. The body of work produced will add to the debates around materiality, collaboration and practice as\ud research. It will also provide further opportunities for the interrogation and development of this form of research.
- Published
- 2017
12. Pethidine And The Triple Response
- Author
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Finer, B. L. and Partington, M. W.
- Published
- 1953
13. Paper-Folder's Fingers
- Author
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Partington, M. W.
- Published
- 1954
14. Noradrenaline In Acute Peripheral Circulatory Failure
- Author
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Partington, M. W.
- Published
- 1956
15. (379) Pain outcomes following intrathecal baclofen pump implant in individuals with cerebral palsy
- Author
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Barney, C., primary, Merbler, A., additional, Stansbury, J., additional, Krach, L., additional, Partington, M., additional, Graupman, P., additional, Kim, P., additional, Song, D., additional, and Symons, F., additional
- Published
- 2017
- Full Text
- View/download PDF
16. Use of anticoagulants and antiplatelet agents in stable outpatients with coronary artery disease and atrial fibrillation. International CLARIFY registry
- Author
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Fauchier, L., Greenlaw, N., Ferrari, R., Ford, I., Fox, K. M., Tardif, J. -C., Tendera, M., Steg, P. G., Sokn, F. J., Reid, C., Lang, I., Van den Branden, F., Cesar, L. M., Mattos, M. A., Nazar Luqman, H., Goudev, A., Dorian, P., Hu, D., Widimsky, P., Hassager, C., Danchin, N., Kaab, S., Vardas, P., Sulaiman, K. J., Al Mahmeed, W., Al Suwaidi, J., Al Rashdan, I., Abdulkader, F., Merkely, B., Kaul, U., Daly, K., Tavazzi, L., Jang, Y., Erglis, A., Laucevicius, A., Jamaluddin, A. N., Gamba, M. A., Tulevski, I. I., Stepinska, J., Morais, J., Macarie, C., Oganov, R., Shalnova, S., Al-Zaibag, M., Hou, M. K., Kamensky, G., Fras, Z., Kanic, V., Naidoo, D. P., Zamorano, J. L., Rickli, H., Jaussi, A., Sriratanasathavorn, C., Kalra, P., Lutai, M., Oleksandr, Nguyen, L. V., Henry, R., Ahuad Guerrero, A., Basara, M., Belcastro, F., Bertarini, J. A., Cazenave, C., Dreycopp, H., Egido, J., Estrella, J., Garofalo, D., Giordano, J., Lagioia, H., Lago, N., La Greca, R., Lema, L., Lopez Cabanillas, N., Luquez, H., Miller, C., Prada, E., Rodenas, P., Schena, R. G., Suarez, G., Tomatti, A., Colquhoun, D. M., Conradie, A., Cox, S., Cross, D., Fathi, R., Fitzgerald, B., Hamilton-Craig, I., Holt, G., Jayasinghe, S. R., Mai, N., Moolman, J., Motyer, R. A., Phillips, K., Rafter, A., Rahman, A., Rainbird, A., Scalia, G., Taylor, A., West, P., Alford, K., Amor, R., Astridge, P., Bastian, B., Bates, F., Doohan, M. M., Du Plooy, J., Ford, J. C., Kanagaratnam, L., Khoury, V., Parkin, R., Rogers, J., Sceats, G., Waldman, A., Wang, D., Wright, S., Ardill, J., Aylward, P., Beltrame, J. F., Bradley, J., Heddle, W., Joseph, M., Rajendran, S., Varughese, S., Brice, E., Hockings, B., Janssen, J., Kozlowski, A., O'Shea, J., Playford, D. A., Woollard, K., Ajani, A., Barron, G., Better, N., Chan, B., Chan, R., Cotroneo, J., Counsell, J. T., Eccleston, D. S., Forge, B. H. R., Hamer, A., Horrigan, M., Jelinek, V. M. J., Lew, R., O'Donnell, D., Panetta, F., Sebastian, M., Soward, A., Srivastava, P., Strathmore, N. F., Sylivris, S., Szto, G., Veth, V., Yip, T., Badr-Eslam, R., Kleemann, L., Steurer, G., Morz-Proszowski, B., Auhser, F., Teleky, U., Sepp, G., Beinhauer, A., Kero, D., Lavicka, C., Perger, T., Hadjiivanov, V., Feldner-Busztin, M., Mika, R., Filip, W., Mahr, A., Toplak, J., Millauer, M. G., Haralambus, P., Walcher, K., Karner, K. H., Ziak, E., Painsipp, P., Frank, U., Suntinger, A., Gritsch, W., Bode, G., Herrmann, R., Raffelsberger, R., Topf, H., Moser, E., Fochterle, J., Honsig, T., Mayr, K., Mayr, H., Kaserbacher, R., Dzien, A., Galehr, E., Felbermayer, M., Schwarz, R., Amini, R., Appeltants, H., Ballet, A., Bar, J. -P., Beckers, J., Bergen, J. -M., Berkenboom, G., Bernard, X., Bouvy, T., Briki, R., Claeys, M., Dascotte, Y., Davin, L., De Backer, T., De Keyser, F., De Meester, A., De Ridder, S., Dendale, P., Denef, K., Dhondt, E., Emonts, M., Geraedts, J. T. M., Goethals, M., Gregoire, J. -M., Haine, E., Herbots, T., Hoffer, E., Hutse, W. H. J., Kassab, A., Lafontaine, P., Lancellotti, P., Lefebvre, P., Lesseliers, H., Lozano, A., Maamar, R., Martinez, C., Noel, J. -F., Odent, G., Pasquet, A., Peperstraete, B., Purnode, P., Rogowsky, A., Rosseel, M., Salembier, J. -P., Surmont, P., Thermol, P., Vandeplas, A. M. F., Van de Walle, S., Vandergoten, P., Vanhauwaert, B. G., Vanneste, L., Vercammen, J., Verleyen, D., Vermander, D., Vervoort, G., Weytjens, C., Yanni, N., da Costa Pereira, A., Rocha de Lorenzo, A., Felice Castro Issa, A., Mahler Mioto, B., de Brito Vianna, C., Segre, C. A. W., Grupi, C. J., Okawabata, C., Favarato, D., Giusti Rossi, E., Fernandes, F., Pitella, F., Alvarez Ramires, F. J., Henpin Yue Cesena, F., Monteiro Ferreira, J. F., Junior, J. F., Tonet, L., Nastari, L., Machado Cesar, L., Gowdak, L. H., Matos, M. A., Moretti, M., Morgado, P. C., Vicente Amato, R., Tadeu Munhoz, R., Coimbra, S. R., Luqman, H. N., Yakovova, S., Mantcheva, M., Mincheva, V., Baurenski, L., Karastanev, K., Yordanova, V., Peneva, Y., Bailey, A., Wong, P., Fagan, M., Sabe-Affaki, G., Villasenor, F. M., Belisle, P., Son, W. K., Manyari, D. E., Giacomantonio, N., Lubelsky, B. J., Ezekiel, D., Leong, J. C. S., Grover, A., Vavougios, J., Pesant, Y., Kushner, A. M., Yeung, M. M. M., Vertes, G. E., Nasser-Sharif, F. J., Abdulla, A. H. K., Spensieri, D., Roy, A., Nguyen, T. T., Leclair, M., Morra, P., Everton Biglow, C., Baril, J. F., Lai, K., Wong, D. S., Martinho, V., Antoniadis, G. A., Searles, G. R., Rouse, D., Brisson, G., King Wong, S., Collette, R. S., M. S. C., Ho, Constance, C., Gendreau, R., Kellam, G. W., Cieza Lara, T. A., Boyrazian, H. A., Shamsuzzaman, M., Spink, D. R., Wong, A. P. T., Grewal, R. S., Che, C., Janes, J., Hechtenthal, N., Czarnecka, M., Saulnier, D., Levesque, G., Clavette, P. F., Kennedy, D. R., Kokis, A., Orenstein-Lyall, T. L., Shekhar Pandey, A., Robb, J., Verret, G., Czarnecki, W., Tsui, W. W. H., Perreault, F., Chouinard, G., Lafrance, G., Fullerton, G. M., Lavoie, J. P., Le Bouthillier, P., Tran, Q. H., Rodriguez Marrero, I., Ramadan, F. B., Talbot, P., Fazil, M. A., Cha, J. Y. -M., Garg, S., Chehayeb, R., Roy, B., Chan, Y. K., Harlos, H. E., Matheson, H. B., Patel, R., Vaz, G. F., Bhatt, J. S., Liu, E., Ashton, T. H., Sullivan, H., Quinn, L. P., Yared, K., Gupta, A., Sullivan, B., Campbell, J., Pallie, S., Kim, H., Vizel, S., Savard, D., Cherry, J. M., Gold, J., Chiu, S., Brouillette, G., Singh, R. R., Varma, S., Belanger, A., Myburgh, J. L., Berlingieri, J., Nisker, W., Boutros, G., Bakbak, A. I., Healley, W., Lasalle, L., Liu, F., Tu, C., Lv, S., Liu, X., Gao, H., Li, H., Zhao, H., Cao, L., Zhao, S., Wang, Y., Wu, D., Gu, F., Pan, G., Liu, P., Wang, X., Jiang, H., Li, J., Wang, J., Zhang, L., Ke, Y., Li, D., Chen, G., Xue, H., Jin, Q., Dong, W., Chen, Y., Fu, Z., Hu, H., Liang, Q., Yang, X., Zhou, Z., Xu, Z., Shao, C., Zhang, H., Pei, H., Song, L., Yu, M., Guan, T., Tang, Y., Wu, Y., Yang, M., Ceng, Q., Chen, X., Lin, L., Peng, Y., Yan, X., Yao, E., Zheng, X., Chen, B., Chen, H., Chen, W., Wang, R., Zheng, Y., Tan, H., Zhou, S., Zhou, Y., Liu, Z., Lu, Q., Lai, L., Pan, J., Wang, L., Fu, Q., Peng, J., Du, N., Lv, Y., Miao, W., Wang, H., Pu, Y., Wang, T., Dong, M., Gong, L., Zhang, J., Chen, Z., Jiang, Q., Ma, F., Xu, W., Dai, M., Wu, J., Yu, X., Chen, C., Huo, Y., Sun, L., Gao, W., Li, Z., Hu, Y., Chen, M., Li, G., Xue, M., Yao, Y., Pan, X., Sang, Z., Zhao, G., Hang, J., Ma, S., Zhang, G., Zhou, G., Li, W., Zhu, B., Yu, B., Zhu, S., Mao, J., Xu, M., Liu, Q., Huang, Q., Xie, Y., Feng, L., Chen, F., Chen, L., Liu, Y., Pei, X., Sun, A., Tian, Z., Wang, W., Yang, H., Yu, A., Zhang, M., Zhang, C., Guan, X., Zhou, X., Li, Y., Xing, Y., Chen, K., Luo, L., Dong, S., Zhang, Y., Ai, F., Xiong, C., Yang, F., Yang, K., Yan, J., Zhu, M., Zhang, A., Shan, G., Chen, J., Guo, J., Wu, S., Li, L., Liu, R., Yang, Y., Gao, X., Du, Z., Liang, L., Zhao, Y., Qian, J., He, L., Xiong, L., Chen, P., Peng, C., Zhu, J., Liu, J., Xie, X., Jiang, F., Li, A., Yang, Q., Cong, H., Guo, Y., Ren, N., Xiao, J., Zhao, R., Jiang, J., Deng, X., Wang, S., Wu, K., Zhang, X., Du, W., Shuang, D., Wei, J., Yuan, C., Li, F., Ou, X., Ou, Y., Yu, G., Zhang, S., Gao, J., Qian, Z., Wu, G., Zheng, S., Xu, D., Xie, J., Ren, W., Yao, X., Cai, B., Lv, J., Dong, J., Deng, Z., Bozkova, J., Carda, J., Dedkova, S., Dufka, A., Fridrich, J., Hodac, T., Jirmar, R., Kadleckova, A., Karlicek, M., Krupicka, J., Kuchar, J., Lavicka, V., Leso, J., Lorenc, Z., Micko, M., Navratil, P., Petrova, I., Povolna, P., Raisova, L., Raska, P., Ravlyk, V., Schlesingerova, S., Smrckova, E., Sternthal, P., Stursova, H., Vymetal, P., Zaoral, L., Wiggers, P., Markenvard, J., Andersen, L. K., Frost, L., Refsgaard, J., Strange, S., Egstrup, K., Sykulski, R., Hildebrant, P., Haghfelt, T., Ege, M., Cattan, S., Adam-Blanpain, M., Adda, M., Aimouch, N., Ardouin, L., Assouline, S., Aumjaud, A., Barjhoux, C., Baroudi, R., Beaurain, C., Bennouna, M. A., Bernard, A., Bernardeau, C., Blanc, E., Blum-Decary, I., Bodur, G., Boesch, C., Bonal, J., Bonhomme, R., Bonnet, J. L., Bories, J., Bourachot, M. L., Brumelot, F., Brunehaut Petaut, M., Brunschwig, C., Buffet, P., Calmettes, P., Centa, I., Chartier, B., Chemin, P., Chometon, F., Cohen, J., Colin, R., Cottin, Y., Crespo, F., Dabboura, A., David, F., Dehayes, P., Dematteo, P., Dibon, O., Dodemant, P., Dormagen, V., Dreyfus, X., Dubois, J. M., Duclos, F., Ducoudre, M., Duprez, O., Durand, P., Durand, E., Egloff, P., Escande, M., Escourrou Berdou, M. C., Esna Ashari, G., Feldmann, I., Ferrieres, J., Foltzer, E., Fontanet, B., Garandeau, M., Garban, T., Geffroy, S., Gillet, T., Godart, S., Gosse, P., Gratia, P., Greiner, O., Gueusquin, A., Guiu, E., Guy, J. M., Haddad, S., Hennebelle, V., Honorat, S., Hourany, A., Hua, G., Jacquier, P., Jean, S., Jeremiasz, R., Kohler, P., Lacroix, A., Leandri, M., Lemiere, Y., Liautard, M., Loheac, P., Louchart, J. C., Magnus, P., Maheu, B., Malaterre, H. R., Manchet, G., Mantoux, J., Manzi, D., Marachli, M., Maroun, M., Meneveau, N., Messas, E., Mougeolle, J. L., Mouhat, T., Muller, J. J., Naisseh, M., Nocon, P., Onger, D., Ouguoujil, A., Ovize, M., Page, E., Pareathumby, K., Pleskof, A., Poinson, P., Pons, G., Pouderou, P., Poujois, J. N., Probst, V., Prunier, F., Prunier, L., Puel, V., Rechtman, D., Rennert, R., Rijavec, B., Riou, Y., Robert, J., Roche, C., Roul, G., Salaun, B., Saleh, B., Sandalian, A., Sander, M., Schenowitz, A., Silvestre, A., Soleille, H., Tabet, S., Tardy, M., Thomas-Richard, F., Truong, B., Varaldi, J., Vial, H., Walch, J. M., Wazana, M., Zeitouni, R., Audibert, H., Alizon, F., Amlaiky, A., Asplanato, M., Baranes, C., Bariaud, M., Bernasconi, F., Bousquet, P., Ceraulo, C., De Geeter, G., Donetti, J., Doucet, B., Doucet, J., Dutoya, T., Ennouchi, D., Fallacher, M. H., Fouquet, G., Fourchard, V., Gdalia, J., Grollier, G., Guerard, S., Jeannerat, P. A., Jobic, Y., Joulie, V., Jourdain, P., Jouve, V., Ketelers, R., Khaznadar, G., Kohan, P., Koujan, B., Lammens, B., Landragin, I., Le Moal, E., M'Bey, D., Maes, F., Maheas Morlet, S., Massabie, R., Meddah, D., Meriaux, F. X., Mestre-Fernandes, C., Meyssonnier, P., Migliore, M., Milewski, J., Millet, J. F., Mingam, S., Nazeyrollas, P., Paganelli, F., Pellerin, F., Petitjean, F., Pinzani, A., Pladys, A., Primot, P., Pucheu, A., Rahali, A., Ravoala, P., Rousson, D., Samama, P., Sardon, M., Silvestri, R., Soskin, P., Tabone, X., Tricot, C., Vaquette, B., Vogel, M., Weingrod, M., Aboyans, V., Amoretti, R., Aubry, J., Berthezene, P., Binet, D., Bonnaud, X., Bonnet, P., Bonny, A., Bouchaya, T., Boureux, C., Bourgeois, J. M., Brottier, L., Cavert, B., Cleron, S., Dechoux, E., Delhomme, C., Detienne, J. P., Dubs, J. P., Faudon, B., Fellous, F., Fressonnet, R., Garaud, Y., Garcia, D., Geneves, M., Gleizes, J. L., Guyetand, C., Hermellin, B., Iovescu, D., Kanner, J. P., Khanoyan, P., Leherissier, A., Maximovitch, A., Merian, B., Messali, P., Moreau, Y., Moyal, J., Payot, L., Petoin Peuch, L., Prevot, J. L., Raymond, P., Relange, D., Reymond, S., Robert, J. F., Rosenstein, H., Schneider, J., Schultz, R., Tanielian, P., Thoin, F., Thomas, L., Touzet, P., Steg, G., Amiel Oster Sauvinet, G., Baylac Domengetroy, F., Chamou, K., Etcheverry, B., Farges, J. L., Fraboulet, J. Y., Goralski, M., Janody, D., Mamez, B., Manlay, W., Paillard, F., Pelier, F., Petit, A., Skonieczny, M., Augarde, R., Fournier, J. B., Liandrat, S., Lim, P., Noury, A. I., Paris, D., Saade, M., Stordeur, J. M., Pornin, M., Galinier, M., Balice-Pasquinelli, M. A., Sosner, P., Yvorra, S., Delcoulx, E., Mouquet, F., Poulard, J. E., Sudre, A., Heno, P., Biausque, F., Guenoun, M., Attia, G., Pouwels, S., Carpentier, L., Verbrugge, E., Ziccarelli, C., Elkohen, M., Tricoire, J., Lang, P., Huttin, O., Altevogt, B. -M., Altmann, U., Baar, M., Berrisch-Rahmel, S., Birkenhagen, A., Blase, I., Blindt, R., Bosch, R., Brattstrom, A., Breuer, H. -H., Castrucci, M., Cicek-Hartvig, S., Cierpka, R., Claus, M., Deissner, M., Drexler, M., Eggeling, T., Eisele, G., Enayat, D., Frickel, S., Gessner, S., Giokoglu, K., Gmehling, J., Goss, F., Grooterhorst, P., Gysan, D. B., Haberl, R., Haerer, W., Hassler jun, N., Heinemann, S., Henschel, F., Hinrichsen, M., Hofer, W., Hofmeister, A., Hoh, G., Horstkotte, E., Jager, F., Jeserich, M., Keil, U., Killat, H., Kimmel, S., Kindel, M., Kindler, P., Kleta, S., Konemann, J., Konig, K., Krause-Allmendinger, H., Kronberg, K., Kruck, I., Mannl, V., Meinel, A., Mentz, G., Meyer-Michael, E., Mibach, F., Moller, S., Muth, S., Nelbock-Huber, E., Ohlmeyer, D., Ozkan-Rashed, Z., Paulus, C. -P., Perings, S., Placke, J., Raters, C., Reifart, N., Rink, A., Rybak, K., Salecker, I., Schermaul, K. -H., Schmidt, E., Schmitz, K. -H., Schon, N., Schroder, T., Sievers, B., Simon, M., Spengler, U., Speth-Nitschke, M., Stumpp, A., Szabo, S., Taggeselle, J., Tamm, A., Thelemann, A., Thelemann, C., Thummel, H., Unger, G., Utech, A., Volmar, J., Wauer, B., Wehr, G., Weinrich, L., Weinrich, R., Windstetter, U., Wirtz, J. H., Wittlich, N., Ziehn, P., Zundorf, P., Al Wahshi, Y., Singh, P. P., Narayan, A., Al Tamimi, F., Al Yazeedi, J., Ayche, M., Al Lawati, A., Al Dhanki, M., Salustri, A., Al Sousi, A., Salah, T., Tamimi, M. Y., Agrawal, A., Wassef, A., Baslaib, F., Al Radaideh, G., Yusufali, A., Bazargani, N., Akbar, M., Abdel Wahab, H., Abdel Malak, S., Ghaly, I., Al Ghool, S., Al Kandari, F., Haiba, M., Alanbaei, M., El Menyar, A., Gomaa, M. M., Khalifa, A., Garadah, T., Avgerinos, C., Gouli, O., Stergiou, D., Alexopoulos, I., Pappas, C., Petropoulos, I., Chatzioakim, G., Pontikakis, N., Priftis, C., Mpompoth, P., Bourazanis, I., Papathanasioy, A., Avlonitis, S., Zakopoulos, C., Koutsimpanis, G., Tsamopoulos, I., Christoforidis, C., Zachos, V., Kalaras, P., Karachaliou, M., Liatas, C., Pournaras, G., Theodorakis, G., Orestis, I., Panisois, K., Chalkiadakis, E., Arfaras, V., Melainis, Kolios, G., Boutsikos, P., Kotsalos, A., Mitropoulos, D., Samothrakitis, A., Svolis, K., Anastasiou, E., Gkinis, T., Dalampyras, P., Kalampalikis, A., Leontaridis, I., Gabriilidis, S., Konstantinidis, I., Plastiras, V., Tarenidis, P., Marozsan, I., Edes, I., Czuriga, I., Cziraki, A., Toth, K., Dongo, A., Turi, P., Forster, T., Borbola, J., Bachmann, B., Masszi, G., Orban, M., Gerges, G., Balogh, G., Bajcsi, E., Sereg, M., Dezsi, C. 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L., Velasco Espejo-Saavedra, E., Vicente Vera, T., Vida Gutierrez, M., Villar Mariscal, C., Vives Bonato, G., Wu Amen, L., Yanes Bowden, G., Yanez Wonenburger, J. C., Zamorano Gomez, J. L., Zarauza Navarro, J., Monnier, P., Forclaz, A., Grobety, M., Schlueter, L., Vuille, C., Nacht, C. A., Evequoz, D., Ciaroni, S., Domine, F., Berube, J., Hellermann, J., Koller, R., Bourgeois, G., Engel, R., Niederberger, C., Stadler, P., Gnadinger, M., Schmied, C., Wettstein, T., Badorff, C., Hilti, P., Chetelat, C. A., Sepulcri, F., Brunner, H., Schindler, J., Kraus, M., Gmur, W., Bouranasompop, C., Jiraroj-ungkun, W., Lapanun, W., Vivekaphirat, V., Panpunnung, S., Dutsadeevettakul, S., Tasneeyapant, S., Ngamjanyaporn, P., Apitamsuntorn, S., Tantisiriwat, W., Suithichaiyakul, T., Kuanprasert, S., Wongcharoen, W., Phrommintikul, A., Musigchai, C., Chantrarat, T., Uerojanaungkul, P., Apinyasawat, S., Tangcharoen, T., Lertnantakul, M., Wasuwat, A., Harinasuta, J., See, O., Chaithiraphan, V., Boonyasirinant, T., Boonyapisit, W., Kittipovanonth, M., Buakhamsri, A., Piyayotai, D., Hutayanon, P., Junejo, S., Aiyegbayo, O., Ancliff, H., Bradshaw, C., Cervenak, R., Choi, H., George, E., Gilmour, I., Gough, D., Idrissi-Sbai, A., Ingham, J., Al-Khalidi, B., Liston, A., Mackrell, J., Pattison, I., Ramachandran, R., Ray, N., Reddy, G., Sen, I., Shetty, K., Singh, L., Stanley, M., Wallace, A., Weatherhead, M., Gilbert, T., McCansh, G., Higgins, S., Killeen, C., Cromarty, I., Franklin, P., Pinch, E., Dhesi, A., Dernedde, C., Lawrence, M., Simper, H., Noble, M., Dalton, G., Stevens, L., Berry, P., Hand, C., Oliver, R., Jones, H., Sampson, P., Taylor, N., Grogono, R., Dalrymple, J., Martin, A., Thurston, S., Elsby, K., Vallis, M., Morrison, G., Lang, C., Watson, A., Thomson, A., Dougall, H., La Hay, B., Compson, L., McCracken, A., Calder, J., Weber, F., Richmond, D., Brownlie, R., Brown, G., MacCowan, H., Heap, A., Perry, M., Holden, L. A., Scott, G., Haldane, N., Hood, S., Cullen, I., Bell, J., McNaught, P., Sharif, M., Dunn, J., Hay, D., Ross, S., Shaw, R., Hay, L., Langridge, S., Burns, R., Crawford, L., Kennedy, A., Logan, D., McAlavey, P., Brown, M., Costello, P., McLaren, G., Potter, A., McPherson, J., Drijfhout, M., Finlayson, J., Troup, D., Woodall, A., Pearce, J., Williams, S., Parkar, W., Yusuf, A., Benett, I., Bishop, P., Thomas, H., Caldwell, I., Ormiston, P., Kwok, S., Kanumilli, N., Saul, P., Milligan, H., Wilkinson, I., Vance, A., Paul, N., Paul, C., Shaikh, I., Ellis, R., Vites, N., Steeds, R., Goodwin, D., Aftab, A., Banham, S., Chauhan, N., Grocutt, M. S., Gupte, A., Jordan, R., Jheeta, B. S., Ladha, K., Nazir, M., Pal, R., Patel, R. P., McManus, R., Singal, A., Saunders, P., Syed, A. B., Bahal, A., Dau, H., Walker, D. M., McNeilly, R., Bolidai, A., MacCarthy, N., Lawton, D., Vardhani, M., Sengupta, G., Kinloch, D., Howie, F., Serrano-Garcia, A., Paget, S. E., Till, R., Seal, P., Morrell, J., Maxwell, T., Singh, G., Warden, D., Elias, R., Dixon, C., Pandey, R. K., Challenor, V., Davies, S., Gibbs, M., Gillet, A., Goldie, C., Jarvis, I., Johnson, P., Malden, M., Moore, J., Morton, C., Nehrig, K., Sheringham, P., Wilson, G., Halcox, J., O'Connor, I., Ling, K., Edwards, D., Charles, H., Weatherup, A., Davies, E., Watkins, N., Morgan, D., Davies, R., Lindsay, A., Beacock, D., Balai, R., Kirmond, P., Brindle, P., Bundy, C., Cahill, T., Dayani, A., Eavis, P., Mohr, S., Hayne, S., Krasucki, C., Micheals, M., Orpen, I., Parker, I., Sewell, R., Sharp, D., Smith, A., Stevens, A., Upton, J., Victory, J., Wernham, C., Davis, R., Mays, C., Andrews, M., Takhar, J., Travill, C., Choudhury, P., Matta, W., Ihonor, A., O'Dong, C., Rahman, S., Singer, P., Gillam, S., Bath, P. S., Razzaq, N., O'Toole, O., Rowe, P., Williams, H., Allcock, A., Tucker, A., Sprott, V., Kyd, K., Cunliffe, G., Arden, C., Bateman, A., Kassianos, G., Sinclair, D., Turner, C., Jagathesan, R., Sattar, F., Ashford, A., Chukwu, A., Taylor, H., Pradhan, R., Rundell, T., Howlett, R., Bietzk, R., Myint, M., Partington, M., O'Reilly, F., Baverstock, M., Dixon, S., Tennekoon, M., Brand, N., Haimes, P., Keller, P., Whetstone, S., Kovyrshyna, O., Rogozhyna, V., Kiver, T., Vasylenko, V., Kucheryava, L., Salimova, S., Alekseenko, V., Gukov, O., Myhailiv, I., Kardashevskaya, L., Prikolota, O., Bashkirtcev, O., Andreev, E., Tkachenko, L., Mospan, M., Batushkin, V., Safonova, L., Ogorodnichuk, A., Pustovit, S., Romanov, S., Burlakova, L., Voloshko, Y., Lafarenko, V., Vlasuk, Z., Leshchuk, O., Chushak, S., Koval, V., Stasuk, O., Pogrebna, O., Kornienko, S., Tikhonova, S., Fesenko, T., Kuzmina, T., Ushakov, O., Vechtomova, N., Potapska, L., Illushechkin, I., Kryvenkova, E., Lysunets, O., Tsygankov, O., Bardachenko, L., Voloshyna, L., Ginzburg, V., Franskyavichene, L., Korotich, T., Vyshnevaya, N., Bilous, N., Kulinich, S., Kulik, V., Sadykova, I., Berezhna, T., Molotyagina, S., Pham, M. H., Pham, H. T., Khong, N. H., K. B., Do, T. B., Le, P. A., Do, T. C., Do, Nguyen, N. Q., Q. H., Do, K. C., Vu, Pham, N. H., Pham, T. H. T., M. C., Ta, Phan, D. P., Nguyen, T. T. H., Pham, T. T. N., T. L., To, V. T., Le, Dang, L., Bui, L., Pham, T. T. H., Phan, H. H., Bui, T. T. H., Tuong, T. V. A., Nguyen, T. P., Nguyen, T. H., Nguyen, B. K., D. B., Vu, Pham, N. S., T. Q., Do, Pham, T. S., Dang, V. D., D. T., Le, V. C., Do, Nguyen, T. K. L., Luong, H. D., Luu, T. Q., Pham, N. V., Huynh, T. K., N. T. H., Tu, Ngo, K. A., Nguyen, T. T. C., Ong, T. T. L., Doan, V. B., Kim, T. B., T. N., Vo, Tran, T. T. T., Nguyen, T. A., Tran, V. D., Nguyen, A. K., Tran, A. C., Ngo, M. H., N. H., Vu, I. T., Ly, Tran, N. P. H., Tran, L. U. P., Nguyen, T. N., Tran, T. H., Truong, P. H., Mai, T. L., Hoang, V. S., Bui, C. M. A., Dang, V. P., Truong, Q. B., M. P., Vo, Nguyen, V. T., Chau, N. H., T. T. H., Ta, Dinh, H. N., Tran, H., Nguyen, H. K. N., Chung, A., Chung, E., Martina-Hooi, B., Angela, R., Ramoutar, P., Fillet, R., Tilluckdharry, R., Dookie, T., Foster, E., Hart, C., Omardeen, F., Ramphall, S., Lalla, C., Cheng, J., Elliott, V., Falconer, H., Hurlock-Clarke, L., Ishmael, R., Lalljie, G., Lee, K., Liqui-Lung, A., Massay, R., Mohammed, H., Brown, C., Daniel, R., Didier, M., Salas, Z., CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University of Glasgow, Maria Cecilia Hospital [Cotignola], Royal Brompton Hospital, Montreal Heart Institute Coordinating Centre (MHICC), Université de Montréal (UdeM), Medical University of Silesia (SUM), Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Dorogoichenko, Aleksandra, Laucevičius, Aleksandras, Jurgaitienė, Rūta, Šlapikas, Rimvydas, Barauskienė, Gražina, Jankauskienė, Edita, Revienė, Sigita, Vaišvila, Tautvydas, Zaronskienė, Danutė, Šlapikienė, Ona Birutė, Kupstytė, Nora, Rinkūnienė, Egidija, Steponėnienė, Rima Vitalija, Kojelienė, Jūratė, Badarienė, Jolita, Dženkevičiūtė, Vilma, Sadauskienė, Eglė, Butkuvienė, Irena, Stankevičius, R., Paliulionienė, R., Snikytė, R., Mažutavičius, R., and CLARIFY Investigators
- Subjects
Male ,Genetics and Molecular Biology (all) ,Heart disease ,medicine.medical_treatment ,atrial fibrillation ,coronary ,anticoagulants ,patients ,atrial flutter ,lcsh:Medicine ,Coronary Artery Disease ,Practice Patterns ,030204 cardiovascular system & hematology ,Chest pain ,Biochemistry ,[SHS]Humanities and Social Sciences ,Cohort Studies ,Coronary artery disease ,Angina ,0302 clinical medicine ,Aged ,Anticoagulants ,Atrial Fibrillation ,Drug Therapy, Combination ,Female ,Guideline Adherence ,Humans ,Outpatients ,Platelet Aggregation Inhibitors ,Practice Patterns, Physicians' ,Registries ,Practice Patterns, Physicians'/statistics & numerical data ,030212 general & internal medicine ,Myocardial infarction ,lcsh:Science ,Stroke ,Anticoagulants/administration & dosage ,Multidisciplinary ,Medicine (all) ,Atrial fibrillation ,Guideline Adherence/statistics & numerical data ,3. Good health ,Combination ,Cardiology ,[SHS] Humanities and Social Sciences ,medicine.symptom ,Research Article ,medicine.medical_specialty ,Coronary Artery Disease/drug therapy ,Agricultural and Biological Sciences (all) ,Biochemistry, Genetics and Molecular Biology (all) ,NO ,03 medical and health sciences ,Drug Therapy ,Internal medicine ,medicine ,Platelet Aggregation Inhibitors/administration & dosage ,Physicians' ,Atrial Fibrillation/drug therapy ,business.industry ,lcsh:R ,Percutaneous coronary intervention ,Outpatients/statistics & numerical data ,medicine.disease ,lcsh:Q ,Human medicine ,business - Abstract
BACKGROUND: Few data are available regarding the use of antithrombotic strategies in coronary artery disease patients with atrial fibrillation (AF) in everyday practice. We sought to describe the prevalence of AF and its antithrombotic management in a contemporary population of patients with stable coronary artery disease.METHODS AND FINDINGS: CLARIFY is an international, prospective, longitudinal registry of outpatients with stable coronary artery disease, defined as prior (≥12 months) myocardial infarction, revascularization procedure, coronary stenosis >50%, or chest pain associated with evidence of myocardial ischemia. Overall, 33,428 patients were screened, of whom 32,954 had data available for analysis at baseline; of these 2,229 (6.7%) had a history of AF. Median (interquartile range) CHA2DS2-VASc score was 4 (3, 5). Oral anticoagulation alone was used in 25.7%, antiplatelet therapy alone in 52.8% (single 41.8%, dual 11.0%), and both in 21.5%. OAC use was independently associated with permanent AF (pCONCLUSIONS: In this contemporary cohort of patients with stable coronary artery disease and AF, most of whom are theoretical candidates for anticoagulation, oral anticoagulants were used in only 47.2%. Half of the patients received antiplatelet therapy alone and one-fifth received both antiplatelets and oral anticoagulants. Efforts are needed to improve adherence to guidelines in these patients.TRIAL REGISTRATION: ISRCTN registry of clinical trials: ISRCTN43070564.
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- 2015
17. Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., and Watson, M.
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- 1985
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18. Erratum
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Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., and Watson, M.
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- 1985
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19. Genes on the X chromosome are important in undiagnosed mental retardation.
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Tonge B., Turner G., Partington M., Mowat D., Einfeld S., Tonge B., Turner G., Partington M., Mowat D., and Einfeld S.
- Abstract
The clinical genetic diagnosis was reviewed in 429 subjects with intellectual disability in the Australian Child and Adolescent Development (ACAD) study of behavioural problems. With minor differences, the overall 'general distribution by causation' was similar to that to that found by the Consensus Conference of the American College of Medical Genetics in 1995. There was a significant male excess in the whole series which was shown to reside in those with 'autism,' those with undiagnosed nonsyndromic mental retardation (NSMR) and those with X-linked monogenic disorders. It is argued that a substantial proportion of undiagnosed NSMR is caused by genes on the X chromosome. Some of the practical problems of assigning individuals to diagnostic groups are discussed. (C) 2000 Wiley-Liss, Inc.
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- 2012
20. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
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Tarpey, P.S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., Greenman, C., Xue, Y., Tyler-Smith, C., Thompson, D., Gray, K., Andrews, J., Barthorpe, S., Buck, G., Cole, J., Dunmore, R., Jones, D., Maddison, M., Mironenko, T., Turner, R., Turrell, K., Varian, J., West, S., Widaa, S., Wray, P., Teague, J., Butler, A., Jenkinson, A., Jia, M., Richardson, D., Shepherd, R., Wooster, R., Tejada, M.I., Martinez, F., Carvill, G., Goliath, R., Brouwer, A.P.M. de, Bokhoven, H. van, Esch, H. van, Chelly, J., Raynaud, M., Ropers, H.H., Abidi, F.E., Srivastava, A.K., Cox, J., Luo, Y., Mallya, U., Moon, J., Parnau, J., Mohammed, S., Tolmie, J.L., Shoubridge, C., Corbett, M., Gardner, A., Haan, E., Rujirabanjerd, S., Shaw, M.A., Vandeleur, L., Fullston, T., Easton, D.F., Boyle, J., Partington, M., Hackett, A., Field, M., Skinner, C., Stevenson, R.E., Bobrow, M., Turner, G., Schwartz, C.E., Gecz, J., Raymond, F.L., Futreal, P.A., Stratton, M.R., Tarpey, P.S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., Greenman, C., Xue, Y., Tyler-Smith, C., Thompson, D., Gray, K., Andrews, J., Barthorpe, S., Buck, G., Cole, J., Dunmore, R., Jones, D., Maddison, M., Mironenko, T., Turner, R., Turrell, K., Varian, J., West, S., Widaa, S., Wray, P., Teague, J., Butler, A., Jenkinson, A., Jia, M., Richardson, D., Shepherd, R., Wooster, R., Tejada, M.I., Martinez, F., Carvill, G., Goliath, R., Brouwer, A.P.M. de, Bokhoven, H. van, Esch, H. van, Chelly, J., Raynaud, M., Ropers, H.H., Abidi, F.E., Srivastava, A.K., Cox, J., Luo, Y., Mallya, U., Moon, J., Parnau, J., Mohammed, S., Tolmie, J.L., Shoubridge, C., Corbett, M., Gardner, A., Haan, E., Rujirabanjerd, S., Shaw, M.A., Vandeleur, L., Fullston, T., Easton, D.F., Boyle, J., Partington, M., Hackett, A., Field, M., Skinner, C., Stevenson, R.E., Bobrow, M., Turner, G., Schwartz, C.E., Gecz, J., Raymond, F.L., Futreal, P.A., and Stratton, M.R.
- Abstract
Contains fulltext : 79687.pdf (publisher's version ) (Closed access), Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.
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- 2009
21. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
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Froyen, G., Corbett, M., Vandewalle, J., Jarvela, I., Lawrence, O., Meldrum, C., Bauters, M., Govaerts, K., Vandeleur, L., Esch, H. van, Chelly, J., Sanlaville, D., Bokhoven, H. van, Ropers, H.H., Laumonnier, F., Ranieri, E., Schwartz, C.E., Abidi, F.E., Tarpey, P.S., Futreal, P.A., Whibley, A., Raymond, F.L., Stratton, M.R., Fryns, J.P., Scott, R., Peippo, M., Sipponen, M., Partington, M., Mowat, D., Field, M., Hackett, A., Marynen, P., Turner, G., Gecz, J., Froyen, G., Corbett, M., Vandewalle, J., Jarvela, I., Lawrence, O., Meldrum, C., Bauters, M., Govaerts, K., Vandeleur, L., Esch, H. van, Chelly, J., Sanlaville, D., Bokhoven, H. van, Ropers, H.H., Laumonnier, F., Ranieri, E., Schwartz, C.E., Abidi, F.E., Tarpey, P.S., Futreal, P.A., Whibley, A., Raymond, F.L., Stratton, M.R., Fryns, J.P., Scott, R., Peippo, M., Sipponen, M., Partington, M., Mowat, D., Field, M., Hackett, A., Marynen, P., Turner, G., and Gecz, J.
- Abstract
Contains fulltext : 70916.pdf (publisher's version ) (Closed access), Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain and because it escapes X inactivation in females. For the other genes, expression array and quantitative PCR analysis in patient cell lines compared to controls showed a significant upregulation of HSD17B10 and HUWE1 as well as several important genes in their molecular pathways. Loss-of-function mutations of HSD17B10 have previously been associated with progressive neurological disease and XLMR. The E3 ubiquitin ligase HUWE1 has been implicated in TP53-associated regulation of the neuronal cell cycle. Here, we also report segregating sequence changes of highly conserved residues in HUWE1 in three XLMR families; these changes are possibly associated with the phenotype. Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too.
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- 2008
22. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
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Turner, G., Lower, K.M., White, S.M., Delatycki, M.B., Lampe, A.K., Wright, M., Smith, J.C., Kerr, B.A., Schelley, S., Hoyme, H.E., Vries, L.B.A. de, Kleefstra, T., Grompe, M., Cox, B., Gecz, J., Partington, M., Turner, G., Lower, K.M., White, S.M., Delatycki, M.B., Lampe, A.K., Wright, M., Smith, J.C., Kerr, B.A., Schelley, S., Hoyme, H.E., Vries, L.B.A. de, Kleefstra, T., Grompe, M., Cox, B., Gecz, J., and Partington, M.
- Abstract
Contains fulltext : 58002.pdf (publisher's version ) (Closed access), The usual description of the Borjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age. Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. As schoolboys, the picture is one of learning problems, moderate short stature, with emerging truncal obesity and gynecomastia. Head circumferences are usually normal, and macrocephaly may be seen. Big ears and small genitalia remain. The toes are short and fingers tapered and malleable. In late adolescence and adult life, the classically described heavy facial appearance emerges. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females.
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- 2004
23. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
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Shoichet, S., Hoffmann, K., Menzel, C., Trautmann, U., Moser, B., Hoeltzenbein, M., Echenne, B., Partington, M., Bokhoven, J.H.L.M. van, Moraine, C., Fryns, J.P., Chelly, J., Rott, H.D., Ropers, H.H., Kalscheuer, V.M.M., Shoichet, S., Hoffmann, K., Menzel, C., Trautmann, U., Moser, B., Hoeltzenbein, M., Echenne, B., Partington, M., Bokhoven, J.H.L.M. van, Moraine, C., Fryns, J.P., Chelly, J., Rott, H.D., Ropers, H.H., and Kalscheuer, V.M.M.
- Abstract
Contains fulltext : 185102.pdf (Publisher’s version ) (Closed access), Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21), we have cloned the DNA fragment that contains the X-chromosomal and the autosomal breakpoint. In silico sequence analysis provided no indication of a causative role for the chromosome 7 breakpoint in mental retardation (MR), whereas, on the X chromosome, a zinc-finger gene, ZNF41, was found to be disrupted. Expression studies indicated that ZNF41 transcripts are absent in the patient cell line, suggesting that the mental disorder in this patient results from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of two other ZNF41 mutations that were not found in healthy control individuals. A proline-to-leucine amino acid exchange is present in affected members of one family with MRX. A second family carries an intronic splice-site mutation that results in loss of specific ZNF41 splice variants. Wild-type ZNF41 contains a highly conserved transcriptional repressor domain that is linked to mechanisms of chromatin remodeling, a process that is defective in various other forms of MR. Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR.
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- 2003
24. Nonsyndromic X-linked mental retardation: where are the missing mutations?
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Ropers, H.H., Hoeltzenbein, M., Kalscheuer, V.M.M., Yntema, H.G., Hamel, B.C.J., Fryns, J.P., Chelly, J., Partington, M., Gecz, J., Moraine, C., Ropers, H.H., Hoeltzenbein, M., Kalscheuer, V.M.M., Yntema, H.G., Hamel, B.C.J., Fryns, J.P., Chelly, J., Partington, M., Gecz, J., and Moraine, C.
- Abstract
Item does not contain fulltext, Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.
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- 2003
25. Craft, Space and Interior Design 1855-2005
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Partington, M., primary
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- 2009
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26. 5-Hydroxytryptophan (5-HTP) in Down's Syndrome
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Partington, M. W., primary, MacDonald, M. R. A., additional, and Tu, J. B., additional
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- 2008
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27. 5-Hydroxyindole Levels in the Blood and CSF in Down's Syndrome, Phenylketonuria and Severe Mental Retardation
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Tu, Junbi, primary and Partington, M. W., additional
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- 2008
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28. The Lesch-Nyhan Syndrome: Self-Destructive Biting, Mental Retardation, Neurological Disorder and Hyperuricaemia
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Partington, M. W., primary and Hennen, B. K. E., additional
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- 2008
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29. A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies
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Collins, F. A., primary, Partington, M. W., additional, Mulcahy, D., additional, and Turner, G., additional
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- 2008
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30. X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome
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Partington, M. W., primary
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- 2008
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31. Conference report: 9th international workshop on fragile X syndrome and X-linked mental retardation.
- Author
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Fryns, J.P., Borghgraef, M., Brown, T.W., Chelly, J., Fisch, G.S., Hamel, B.C.J., Hanauer, A., Lacombe, D., Luo, L., MacPherson, J.N., Mandel, J.L., Moraine, C., Mulley, J.C., Nelson, D., Oostra, B.A., Partington, M., Ramakers, G.J., Ropers, H.H., Rousseau, F., Schwartz, C., Steinbach, P., Stoll, C., Tranebjaerg, L., Turner, G., Bokhoven, J.H.L.M. van, Vianna-Morgante, A.M., Villard, L., Warren, S.T., Fryns, J.P., Borghgraef, M., Brown, T.W., Chelly, J., Fisch, G.S., Hamel, B.C.J., Hanauer, A., Lacombe, D., Luo, L., MacPherson, J.N., Mandel, J.L., Moraine, C., Mulley, J.C., Nelson, D., Oostra, B.A., Partington, M., Ramakers, G.J., Ropers, H.H., Rousseau, F., Schwartz, C., Steinbach, P., Stoll, C., Tranebjaerg, L., Turner, G., Bokhoven, J.H.L.M. van, Vianna-Morgante, A.M., Villard, L., and Warren, S.T.
- Abstract
Item does not contain fulltext
- Published
- 2000
32. Ceramic Points of View: Video Interviews, the Internet and the Interpretation of Museum Objects
- Author
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Partington, M., primary
- Published
- 2006
- Full Text
- View/download PDF
33. The Rubinstein-Taybi syndrome.
- Author
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PADFIELD, C. J., PARTINGTON, M., SIMPSON, E., Partington, M W, and Simpson, N E
- Published
- 1968
- Full Text
- View/download PDF
34. Reply
- Author
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Partington, M., primary and Turner, G., additional
- Published
- 1998
- Full Text
- View/download PDF
35. Case finding for the fragile X syndrome and its consequences
- Author
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Turner, G., primary, Robinson, H., additional, Wake, S., additional, Laing, S., additional, and Partington, M., additional
- Published
- 1997
- Full Text
- View/download PDF
36. Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
- Author
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Partington, M W, primary, Fagan, K, additional, Soubjaki, V, additional, and Turner, G, additional
- Published
- 1997
- Full Text
- View/download PDF
37. Reply
- Author
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Turner, G., primary and Partington, M. W, additional
- Published
- 1992
- Full Text
- View/download PDF
38. Watson syndrome: is it a subtype of type 1 neurofibromatosis?
- Author
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Allanson, J E, primary, Upadhyaya, M, additional, Watson, G H, additional, Partington, M, additional, MacKenzie, A, additional, Lahey, D, additional, MacLeod, H, additional, Sarfarazi, M, additional, Broadhead, W, additional, and Harper, P S, additional
- Published
- 1991
- Full Text
- View/download PDF
39. Haematometra in the Langer-Giedion syndrome.
- Author
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Partington, M W, primary, Rae, J, additional, and Payne, M J, additional
- Published
- 1991
- Full Text
- View/download PDF
40. Genes for intelligence on the X chromosome.
- Author
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Turner, G, primary and Partington, M W, additional
- Published
- 1991
- Full Text
- View/download PDF
41. Non-specific X linked mental retardation.
- Author
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Kerr, B, primary, Turner, G, additional, Mulley, J, additional, Gedeon, A, additional, and Partington, M, additional
- Published
- 1991
- Full Text
- View/download PDF
42. Short Report The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations.
- Author
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Turner, G., Lower, K. M., White, S. M., Delatycki, M., Lampe, A. K., Wright, M., Clayton-Smith, J., Kerr, B., Schelley, S., Hoyme, H. E., De Vries, B. B. A., Kleefstra, T., Grompe, M., Cox, B., Gecz, J., and PArtington, M.
- Subjects
X-linked intellectual disabilities ,EPILEPSY ,MICROCEPHALY ,SHORT stature ,OBESITY ,GYNECOMASTIA ,GENETIC mutation ,LEARNING disabilities - Abstract
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Clayton-Smith J, Kerr B, Schelley S, Hoyme HE, De Vries BBA, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations. The usual description of the Börjeson–Forssman–Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age. Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. As schoolboys, the picture is one of learning problems, moderate short stature, with emerging truncal obesity and gynecomastia. Head circumferences are usually normal, and macrocephaly may be seen. Big ears and small genitalia remain. The toes are short and fingers tapered and malleable. In late adolescence and adult life, the classically described heavy facial appearance emerges. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females. [ABSTRACT FROM AUTHOR]
- Published
- 2004
- Full Text
- View/download PDF
43. A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies.
- Author
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Collins, F. A., Partington, M. W., Mulcahy, D., and Turner, G.
- Published
- 1990
- Full Text
- View/download PDF
44. X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome.
- Author
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Partington, M. W.
- Published
- 1986
- Full Text
- View/download PDF
45. Serotonin metabolism in cystic fibrosis.
- Author
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PARTINGTON, M. W. and FERGUSON, A. C.
- Abstract
The average blood serotonin level of 67 children with cystic fibrosis was found to be about twice that of age-matched normal children. There was no corresponding increase in the urinary excretion of 5-hydroxyindoleacetic acid (5-HIAA). Children with cystic fibrosis were well able to metabolize serotonin taken by mouth. No significant correlations were found between the blood serotonin level and the platelet count, height, weight, skinfold thickness, and pulmonary function test, 5 out of 44 patients had raised serum IgE levels, and their mean blood serotonin was higher than in those with normal IgE levels. No explanation for this emerged. Comparable findings (raised blood serotonin normal platelet count, normal urinary 5-HIAA) have been reported only in severe mental retardation. Further study of this phenomenon is warranted because (a) a raised blood serotonin level is sufficiently characteristic of cystic fibrosis to explore its use in diagnosis, and (b) it may help to explain the pathogenesis of cystic fibrosis and (c) the metabolism and function of serotonin. [ABSTRACT FROM AUTHOR]
- Published
- 1977
- Full Text
- View/download PDF
46. OBSERVATIONS ON PHENYLKETONURIA IN ONTARIO.
- Author
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PARTINGTON, M. W.
- Published
- 1961
47. Multiple anomalies associated with a small extra metacentric autosome.
- Author
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Mukherjee, A B, Partington, M W, Simpson, N E, and Walmsley, K A
- Published
- 1968
48. The Newborn Phenylketonuria Screening Program in Ontario.
- Author
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HANLEY, W. B., PARTINGTON, M. W., RATHBUN, J. C., AMIES, C. R., WEBB, JEAN F., and MOORE, J. ELLIS
- Published
- 1969
49. The Heights and Weights of Indian and Eskimo School Children on James Bay and Hudson Bay.
- Author
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PARTINGTON, M. W. and ROBERTS, NORMA
- Published
- 1969
50. Case-Finding in Phenylketonuria: III. One-way Paper Chromatography of Amino Acids in Blood.
- Author
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PARTINGTON, M. W.
- Published
- 1968
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