المؤلفون: Durack, A., Mehta, S. G., Allen, L. E., Ozanic Bulic, S., Burrows, N. P.

المصدر: Clinical and Experimental Dermatology ; volume 43, issue 7, page 860-862 ; ISSN 0307-6938

مصطلحات موضوعية: Dermatology

الإتاحة: https://doi.org/10.1111/ced.13638Test

المؤلفون: Crow Y. J., Marshall H., Rice G. I., Seabra L., Jenkinson E. M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A. C. -H., Chiang D., Clifford D. B., Cordelli D. M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S. R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E. G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H. T., Hughes I., Jacob A., Jones E. A., Kumar R., Leventer R. J., MacDonald S., Maroofian R., Mehta S. G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C. A., Subramanian G. M., Talbot K., Thomas R. H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J. H., O'Keefe R. T., Badrock A. P.

المساهمون: Crow, Y. J., Marshall, H., Rice, G. I., Seabra, L., Jenkinson, E. M., Baranano, K., Battini, R., Berger, A., Blair, E., Blauwblomme, T., Bolduc, F., Boddaert, N., Buckard, J., Burnett, H., Calvert, S., Caumes, R., Ng, A. C. -H., Chiang, D., Clifford, D. B., Cordelli, D. M., de Burca, A., Demic, N., Desguerre, I., De Waele, L., Di Fonzo, A., Dunham, S. R., Dyack, S., Elmslie, F., Ferrand, M., Fisher, G., Karimiani, E. G., Ghoumid, J., Gibbon, F., Goel, H., Hilmarsen, H. T., Hughes, I., Jacob, A., Jones, E. A., Kumar, R., Leventer, R. J., Macdonald, S., Maroofian, R., Mehta, S. G., Metz, I., Monfrini, E., Neumann, D., Noetzel, M., O'Driscoll, M., Ounap, K., Panzer, A., Parikh, S., Prabhakar, P., Ramond, F., Sandford, R., Saneto, R., Soh, C., Stutterd, C. A., Subramanian, G. M., Talbot, K., Thomas, R. H., Toro, C., Touraine, R., Wakeling, E., Wassmer, E., Whitney, A., Livingston, J. H., O'Keefe, R. T., Badrock, A. P.

مصطلحات موضوعية: C/D box snoRNA U8, coats plu, Labrune syndrome, leukoencephalopathy with calcifications and cyst, ribosomopathy, SNORD118

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33029936; info:eu-repo/semantics/altIdentifier/wos/WOS:000575817400001; volume:185; issue:1; firstpage:15; lastpage:25; numberofpages:11; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11568/1070985Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092167921

الإتاحة: https://doi.org/10.1002/ajmg.a.61907Test
https://hdl.handle.net/11568/1070985Test

المؤلفون: Smedley, D., Smith, K. R., Martin, A., Thomas, E. A., McDonagh, E. M., Cipriani, V., Ellingford, J. M., Arno, G., Tucci, A., Vandrovcova, J., Chan, G., Williams, H. J., Ratnaike, T., Wei, W., Stirrups, K., Ibanez, K., Moutsianas, L., Wielscher, M., Need, A., Barnes, M. R., Vestito, L., Buchanan, J., Wordsworth, S., Ashford, S., Rehmström, K., Li, E., Fuller, G., Twiss, P., Spasic-Boskovic, O., Halsall, S., Floto, R. A., Poole, K., Wagner, A., Mehta, S. G., Gurnell, M., Burrows, N., James, R., Penkett, C., Dewhurst, E., Gräf, S., Mapeta, R., Kasanicki, M., Haworth, A., Savage, H., Babcock, M., Reese, M. G., Bale, M., Baple, E., Boustred, C., Brittain, H., de Burca, A., Bleda, M., Devereau, A., Halai, D., Haraldsdottir, E., Hyder, Z., Kasperaviciute, D., Patch, C., Polychronopoulos, D., Matchan, A., Sultana, R., Ryten, M., Tavares, A. L. T., Tregidgo, C., Turnbull, C., Welland, M., Wood, S., Snow, C., Williams, E., Leigh, S., Foulger, R. E., Daugherty, L. C., Niblock, O., Leong, I. U. S., Wright, C. F., Davies, J., Crichton, C., Welch, J., Woods, K., Abulhoul, L., Aurora, P., Bockenhauer, D., Broomfield, A., Cleary, M. A., Lam, T., Dattani, M., Footitt, E., Ganesan, V., Grunewald, S., Compeyrot-Lacassagne, S., Muntoni, F., Pilkington, C., Quinlivan, R., Thapar, N., Wallis, C., Wedderburn, L. R., Worth, A., Bueser, T., Compton, C., Deshpande, C., Fassihi, H., Haque, E., Izatt, L., Josifova, D., Mohammed, S., Robert, L., Rose, S., Ruddy, D., Sarkany, R., Say, G., Shaw, A. C., Wolejko, A., Habib, B., Burns, G., Hunter, S., Grocock, R. J., Humphray, S. J., Robinson, P. N., Haendel, M., Simpson, M. A., Banka, S., Clayton-Smith, J., Douzgou, S., Hall, G., Thomas, H. B., O'Keefe, R. T., Michaelides, M., Moore, A. T., Malka, S., Pontikos, N., Browning, A. C., Straub, V., Gorman, G. S., Horvath, R., Quinton, R., Schaefer, A. M., Yu-Wai-Man, P., Turnbull, D. M., McFarland, R., Taylor, R. W., O'Connor, E., Yip, J., Newland, K., Morris, H. R., Polke, J., Wood, N. W., Campbell, C., Camps, C., Gibson, K., Koelling, N., Lester, T., Németh, A. H., Palles, C., Patel, S., Roy, N. B. A., Sen, A., Taylor, J., Cacheiro, P., Jacobsen, J. O., Seaby, E. G., Davison, V., Chitty, L., Douglas, A., Naresh, K., McMullan, D., Ellard, S., Temple, I. K., Mumford, A. D., Wilson, G., Beales, P., Bitner-Glindzicz, M., Black, G., Bradley, J. R., Brennan, P., Burn, J., Chinnery, P. F., Elliott, P., Flinter, F., Houlden, H., Irving, M., Newman, W., Rahman, S., Sayer, J. A., Taylor, J. C., Webster, A. R., Wilkie, A. O. M., Ouwehand, W. H., Raymond, F. L., Chisholm, J., Hill, S., Bentley, D., Scott, R. H., Fowler, T., Rendon, A., Caulfield, M.

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases/diagnosis/*genetics, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

العلاقة: N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi:10.1056/NEJMoa2035790.; https://rde.dspace-express.com/handle/11287/622253Test; The New England journal of medicine

الإتاحة: https://doi.org/10.1056/NEJMoa2035790Test
https://rde.dspace-express.com/handle/11287/622253Test

المؤلفون: Bell S., Rousseau J., Peng H., Aouabed Z., Priam P., Theroux J. -F., Jefri M., Tanti A., Wu H., Kolobova I., Silviera H., Manzano-Vargas K., Ehresmann S., Hamdan F. F., Hettige N., Zhang X., Antonyan L., Nassif C., Ghaloul-Gonzalez L., Sebastian J., Vockley J., Begtrup A. G., Wentzensen I. M., Crunk A., Nicholls R. D., Herman K. C., Deignan J. L., Al-Hertani W., Efthymiou S., Salpietro V., Miyake N., Makita Y., Matsumoto N., Ostern R., Houge G., Hafstrom M., Fassi E., Houlden H., Klein Wassink-Ruiter J. S., Nelson D., Goldstein A., Dabir T., van Gils J., Bourgeron T., Delorme R., Cooper G. M., Martinez J. E., Finnila C. R., Carmant L., Lortie A., Oegema R., van Gassen K., Mehta S. G., Huhle D., Abou Jamra R., Martin S., Brunner H. G., Lindhout D., Au M., Graham J. M., Coubes C., Turecki G., Gravel S., Mechawar N., Rossignol E., Michaud J. L., Lessard J., Ernst C., Campeau P. M.

المساهمون: Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J. -F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Klein Wassink-Ruiter, J. S., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L., Lortie, A., Oegema, R., van Gassen, K., Mehta, S. G., Huhle, D., Abou Jamra, R., Martin, S., Brunner, H. G., Lindhout, D., Au, M., Graham, J. M., Coubes, C., Turecki, G., Gravel, S., Mechawar, N., Rossignol, E., Michaud, J. L., Lessard, J., Ernst, C., Campeau, P. M.

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31031012; info:eu-repo/semantics/altIdentifier/wos/WOS:000466608700004; volume:104 (5); firstpage:815; lastpage:834; numberofpages:20; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/969530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064931418

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
http://hdl.handle.net/11567/969530Test

المؤلفون: Patel, R. V., Govani, D., Patel, R., Mehta, S. G.

المصدر: Case Reports ; volume 2013, issue sep26 1, page bcr2013200569-bcr2013200569 ; ISSN 1757-790X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1136/bcr-2013-200569Test

المؤلفون: Patel, N A, Parekh, H, Vasavada, D P, Mehta, S G, Porecha, M M, Shah, J

المصدر: Indian Journal of Radiology and Imaging ; volume 16, issue 01, page 75-82 ; ISSN 0971-3026 1998-3808

الإتاحة: https://doi.org/10.4103/0971-3026.29054Test

المؤلفون: Gazdagh, G., Blyth, M., Scurr, I., Turnpenny, Peter D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R., Tobias, E. S., Joss, S. K.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1769-7212Test(18)30016-8; Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. Eur J Med Genet 2019 Jan;62(1):27-34 Epub 2018 Apr 23; http://hdl.handle.net/11287/620715Test; European journal of medical genetics

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.04.014Test
http://hdl.handle.net/11287/620715Test

المؤلفون: Moortgat, S., Berland, S., Aukrust, I., Maystadt, I., Baker, L., Benoit, V., Caro-Llopis, A., Cooper, N. S., Debray, F-G, Faivre, L., Gardeitchik, T., Haukanes, B. I., Houge, G., Kivuva, Emma, Martinez, F., Mehta, S. G., Nassogne, M-C, Powell-Hamilton, N., Pfundt, R., Rosello, M., Prescott, T., Vasudevan, P., van Loon, B., Verellen-Dumoulin, C., Verloes, A., Lippe, C. von der, Wakeling, E., Wilkie, A. O. M., Wilson, L., Yuen, A., Study, D., Low, K. J., Newbury-Ecob, R. A.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

العلاقة: http://dx.doi.org/10.1038/s41431-017-0038-6Test; HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. 2017 Eur. J. Hum. Genet.; http://hdl.handle.net/11287/620570Test; European journal of human genetics : EJHG

الإتاحة: https://doi.org/10.1038/s41431-017-0038-6Test
http://hdl.handle.net/11287/620570Test

المؤلفون: Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, ahin, Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S.-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S.-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellaker, C., Taylor, M. S., FitzPatrick, D. R.

العلاقة: Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, ahin, Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S.-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S.-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellaker, C., Taylor, M. S. and FitzPatrick, D. R. (2014) Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics, 51 (10), 659-668. (doi:10.1136/jmedgenet-2014-102573 ).

الإتاحة: https://doi.org/10.1136/jmedgenet-2014-102573Test
https://eprints.soton.ac.uk/368164Test/

المؤلفون: Banka, S., Howard, E., Bunstone, S., Chandler, K. E., Kerr, B., Lachlan, K., Mckee, S., Mehta, S. G., Tavares, A. L T, Tolmie, J., Donnai, D.

المصدر: Banka , S , Howard , E , Bunstone , S , Chandler , K E , Kerr , B , Lachlan , K , Mckee , S , Mehta , S G , Tavares , A L T , Tolmie , J & Donnai , D 2013 , ' MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome ' , Clinical Genetics , vol. 83 , no. 5 , pp. 467-471 . https://doi.org/10.1111/j.1399-0004.2012.01955.xTest

مصطلحات موضوعية: Intragenic deletion duplication, Kabuki syndrome, KDM6A, MLL2, Mosaic

الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01955.xTest
https://research.manchester.ac.uk/en/publications/aaf32460-f318-4ebb-91fc-7b449bf3d120Test