نتائج البحث

1

دورية أكاديمية

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

المؤلفون: C Rowlands, HB Thomas, J Lord, HA Wai, G Arno, G Beaman, P Sergouniotis, B Gomes-Silva, C Campbell, N Gossan, C Hardcastle, K Webb, C O’Callaghan, RA Hirst, S Ramsden, E Jones, J Clayton-Smith, AR Webster, JC Ambrose, P Arumugam, R Bevers, M Bleda, F Boardman-Pretty, CR Boustred, H Brittain, MJ Caulfield, GC Chan, T Fowler, A Giess, A Hamblin, S Henderson, TJP Hubbard, R Jackson, LJ Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, SEA Leigh, IUS Leong, FJ Lopez, F Maleady-Crowe, M McEntagart, F Minneci, L Moutsianas, M Mueller, N Murugaesu, AC Need, P O’Donovan, CA Odhams, C Patch, D Perez-Gil, MB Pereira, J Pullinger, T Rahim, A Rendon, T Rogers, K Savage, K Sawant, RH Scott, A Siddiq, A Sieghart, SC Smith, A Sosinsky, A Stuckey, M Tanguy, AL Taylor Tavares, ERA Thomas, SR Thompson, A Tucci, MJ Welland, E Williams, K Witkowsa, SM Wood, AGL Douglas, RT O’Keefe, WG Newman, D Baralle, GCM Black, JM Ellingford

مصطلحات موضوعية: Uncategorized, Clinical genetics, Disease genetics, Genetic testing, Genetics

العلاقة: 2381/17085908.v1; https://figshare.com/articles/journal_contribution/Comparison_of_in_silico_strategies_to_prioritize_rare_genomic_variants_impacting_RNA_splicing_for_the_diagnosis_of_genomic_disorders/17085908Test

الإتاحة: https://figshare.com/articles/journal_contribution/Comparison_of_in_silico_strategies_to_prioritize_rare_genomic_variants_impacting_RNA_splicing_for_the_diagnosis_of_genomic_disorders/17085908Test

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2

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

المؤلفون: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty

المساهمون: British Heart Foundation, Wellcome Trust

المصدر: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011Test

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05aTest
http://hdl.handle.net/10044/1/95227Test

3

دورية أكاديمية

and breast cancer

المؤلفون: F. Bianchi, M. Raponi, F. Piva, A. Viel, I. Bearzi, E. Galizia, R. Bracci, L. Belvederesi, C. Loretelli, C. Brugiati, F. Corradini, D. Baralle, R. Cellerino

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/c6/29/Fam_Cancer_2011_Mar_18_10(1)_27-35.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.293.4181Test

4

دورية أكاديمية

Role of Pseudoexons and Pseudointrons in Human Cancer

المؤلفون: ROMANO, MAURIZIO, BURATTI, EMANUELE, D. Baralle

المساهمون: Romano, Maurizio, Buratti, Emanuele, D., Baralle

مصطلحات موضوعية: Pseudoexon, Pseudointron, Cancer, Alternative splicing, ATM, BrcA1, FN-IIICS, AchE, THPO

وصف الملف: ELETTRONICO

العلاقة: firstpage:1; lastpage:16; numberofpages:16; journal:INTERNATIONAL JOURNAL OF CELL BIOLOGY; http://hdl.handle.net/11368/2711880Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885457755; http://dx.doi.org/10.1155/2013/810572Test http://downloads.hindawi.com/journals/ijcb/2013/810572.pdfTest http://www.hindawi.com/journals/ijcb/2013/810572Test/

الإتاحة: https://doi.org/10.1155/2013/810572Test
http://hdl.handle.net/11368/2711880Test

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5

دورية أكاديمية

An intronic mutation in MLH1 associated with familial colon and breast cancer

المؤلفون: F. Bianchi, M. Raponi, F. Piva, A. Viel, I. Bearzi, E. Galizia, R. Bracci, L. Belvederesi, C. Loretelli, C. Brugiati, F. Corradini, D. Baralle, R. Cellerino

المساهمون: F. Bianchi, M. Raponi, F. Piva, A. Viel, I. Bearzi, E. Galizia, R. Bracci, L. Belvederesi, C. Loretelli, C. Brugiati, F. Corradini, D. Baralle, R. Cellerino

مصطلحات موضوعية: Breast cancer, Colon cancer, Intronic mutation, Minigene assay, MLH1, Oncology, Genetic, Genetics (clinical), Cancer Research, Settore MED/06 - Oncologia Medica, Settore MED/04 - Patologia Generale, Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica, Settore BIO/13 - Biologia Applicata, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20717847; info:eu-repo/semantics/altIdentifier/wos/WOS:000287208200004; volume:10; issue:1; firstpage:27; lastpage:35; numberofpages:9; journal:FAMILIAL CANCER; http://hdl.handle.net/2434/570273Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79951857010

الإتاحة: https://doi.org/10.1007/s10689-010-9371-4Test
http://hdl.handle.net/2434/570273Test

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6

دورية أكاديمية

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

المؤلفون: H. C. Mefford, A. J. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V. K. Maloney, J. A. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. d. Ravel, K. Devriendt, E. M. H, N. d. Leeuw, W. Reardon, S. Gimelli, F. Bena, R. C. Hennekam, A. Male, L. Gaunt, J. Clayton Smith, I. Simonic, S. M. Park, S. G. Mehta, S. Nik Zainal, C. G. Woods, H. V. Firth, G. Parkin, M. Fichera, S. Reitano, M. L. Giudice, K. E. Li, I. Casuga, A. Broomer, B. Conrad, M. Schwerzmann, L. Räber, S. Gallati, A. Coppola, J. L. Tolmie, E. S. Tobias, C. Lilley, L. Armengol, Y. Spysschaert, P. Verloo, A. D. Coene, L. Goossens, G. Mortier, F. Speleman, E. v. Binsbergen, M. R. Nelen, R. Hochstenbach, M. Poot, L. Gallagher, M. Gill, J. McClellan, M. King, R. Regan, C. Skinner, R. E. Stevenson, S. E. Antonarakis, C. Chen, X. Estivill, B. Menten, G. Gimelli, S. Gribble, S. Schwartz, J. S. Sutcliffe, T. Walsh, S. J. L, J. Sebat, C. Romano, C. E. Schwartz, J. A. Veltman, B. B. A, J. R. Vermeesch, J. C. K, L. Willatt, M. Tassabehji, E. E. Eichler, STRIANO, PASQUALE

المساهمون: H. C., Mefford, A. J., Sharp, C., Baker, A., Itsara, Z., Jiang, K., Buysse, S., Huang, V. K., Maloney, J. A., Crolla, D., Baralle, A., Collin, C., Mercer, K., Norga, T. d., Ravel, K., Devriendt, E. M., H., N. d., Leeuw, W., Reardon, S., Gimelli, F., Bena, R. C., Hennekam, A., Male, L., Gaunt, J., Clayton Smith, I., Simonic, S. M., Park, S. G., Mehta, S., Nik Zainal, C. G., Wood, H. V., Firth, G., Parkin, M., Fichera, S., Reitano, M. L., Giudice, K. E., Li, I., Casuga, A., Broomer, B., Conrad, M., Schwerzmann, L., Räber, S., Gallati, Striano, Pasquale, A., Coppola, J. L., Tolmie, E. S., Tobia, C., Lilley, L., Armengol, Y., Spysschaert, P., Verloo, A. D., Coene, L., Goossen, G., Mortier, F., Speleman, E. v., Binsbergen, M. R., Nelen, R., Hochstenbach, M., Poot, L., Gallagher, M., Gill, J., Mcclellan, M., King, R., Regan, C., Skinner, R. E., Stevenson, S. E., Antonaraki, C., Chen, X., Estivill, B., Menten, G., Gimelli, S., Gribble, S., Schwartz, J. S., Sutcliffe, T., Walsh, S. J., L., J., Sebat, C., Romano, C. E., Schwartz, J. A., Veltman, B. B., A., J. R., Vermeesch, J. C., K., L., Willatt, M., Tassabehji, E. E., Eichler

مصطلحات موضوعية: Autistic Disorder, genetics, Cataract, congenital/genetics, Child, Chromosome Aberrations, Chromosome Deletion, Chromosome, Human, Pair 1, Congenital Abnormalitie, Female, Gene Duplication, Gene Rearrangement, Genetic Variation, Heart Defect, Congenital, Humans, Intellectual Disability, Male, Microcephaly, Phenotype, Recombination, Genetic

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18784092; info:eu-repo/semantics/altIdentifier/wos/WOS:000260041400007; volume:359; firstpage:1685; lastpage:1699; numberofpages:14; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11567/314927Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-54049094444; http://dx.doi.org/10.1056/NEJMoa0805384Test

الإتاحة: https://doi.org/10.1056/NEJMoa0805384Test
http://hdl.handle.net/11567/314927Test

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