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1Academic Journal
المؤلفون: Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, Carson, AR, Parker-Katiraee, L, Skaug, J, Khaja, R, Zhang, JJ, Hudek, AK, Li, M, Haddad, M, Duggan, GE, Fernandez, BA, Kanematsu, E, Gentles, S, Christopoulos, CC, Choufani, S, Kwasnicka, D, Zheng, XQH, Lai, ZW, Nusskern, D, Zhang, Q, Gu, ZP, Lu, F, Zeesman, S, Nowaczyk, MJ, Teshima, I, Chitayat, D, Shuman, C, Weksberg, R, Zackai, EH, Grebe, TA, Cox, SR, Kirkpatrick, SJ, Rahman, N, Friedman, JM, Heng, HHQ, Pelicci, PG, Lo-Coco, F, Belloni, E, Shaffer, LG, Pober, B, Morton, CC, Gusella, JF, Bruns, GAP, Korf, BR, Quade, BJ, Ligon, AH, Ferguson, H, Higgins, AW, Leach, NT, Herrick, SR, Lemyre, E, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Dohner, H, Dohner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD, Tsui, LC
المصدر: Science (New York, N.Y.). 300(5620):767-772
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Nguyen, TL, Aung, YK, Evans, CF, Dite, GS, Stone, J, MacInnis, RJ, Dowty, JG, Bickerstaffe, A, Aujard, K, Rommens, JM, Song, Y-M, Sung, J, Jenkins, MA, Southey, MC, Giles, GG, Apicella, C, Hopper, JL
Relation: pii: 2670319; Nguyen, T. L., Aung, Y. K., Evans, C. F., Dite, G. S., Stone, J., MacInnis, R. J., Dowty, J. G., Bickerstaffe, A., Aujard, K., Rommens, J. M., Song, Y. -M., Sung, J., Jenkins, M. A., Southey, M. C., Giles, G. G., Apicella, C. & Hopper, J. L. (2017). Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 46 (2), pp.652-661. https://doi.org/10.1093/ije/dyw212.; http://hdl.handle.net/11343/220795
الاتاحة: http://hdl.handle.net/11343/220795
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3Academic Journal
المؤلفون: Lafreniere, RG, Rochefort, DL, Chretien, N, Rommens, JM, Cochius, JI, Kalviainen, R, Nousiainen, U, Patry, G, Farrell, K, Soderfeldt, B, Federico, A, Hale, BR, Cossio, OH, Sorensen, T, Pouliot, MA, Kmiec, T, Uldall, P, Janszky, J, Pranzatelli, MR, Andermann, F, Andermann, E, Rouleau, GA
المصدر: Nature genetics. 15(3):298-302
مصطلحات موضوعية: Medicin och hälsovetenskap
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4Academic Journal
المؤلفون: Sherrington, R, Froelich, S, Sorbi, S, Campion, D, Chi, H, Rogaeva, EA, Levesque, G, Rogaev, EI, Lin, C, Liang, Y, Ikeda, M, Mar, L, Brice, A, Agid, Y, Percy, ME, ClergetDarpoux, F, Piacentini, S, Marcon, G, Nacmias, B, Amaducci, L, Frebourg, T, Lannfelt, L, Rommens, JM, StGeorgeHyslop, PH
المصدر: Human molecular genetics. 5(7):985-988
مصطلحات موضوعية: Medicin och hälsovetenskap
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5Academic Journal
المؤلفون: ROGAEV, EI, SHERRINGTON, R, ROGAEVA, EA, LEVESQUE, G, IKEDA, M, LIANG, Y, CHI, H, LIN, C, HOLMAN, K, TSUDA, T, MAR, L, SORBI, S, NACMIAS, B, PIACENTINI, S, AMADUCCI, L, CHUMAKOV, I, COHEN, D, LANNFELT, L, FRASER, PE, ROMMENS, JM, STGEORGEHYSLOP, PH
المصدر: Nature. 376(6543):775-778
مصطلحات موضوعية: Medicin och hälsovetenskap
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6Academic Journal
المؤلفون: Greenwood, CMT, Paterson, AD, Linton, L, Andrulis, IL, Apicella, C, Dimitromanolakis, A, Kriukov, V, Martin, LJ, Salleh, A, Samiltchuk, E, Parekh, RV, Southey, MC, John, EM, Hopper, JL, Boyd, NF, Rommens, JM
Relation: pii: bcr3078; Greenwood, C. M. T., Paterson, A. D., Linton, L., Andrulis, I. L., Apicella, C., Dimitromanolakis, A., Kriukov, V., Martin, L. J., Salleh, A., Samiltchuk, E., Parekh, R. V., Southey, M. C., John, E. M., Hopper, J. L., Boyd, N. F. & Rommens, J. M. (2011). A genome-wide linkage study of mammographic density, a risk factor for breast cancer. BREAST CANCER RESEARCH, 13 (6), https://doi.org/10.1186/bcr3078.; http://hdl.handle.net/11343/264548
الاتاحة: http://hdl.handle.net/11343/264548
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7Academic Journal
المؤلفون: Blencowe, BJ, Rommens, JM, Tsui, LC, Zielenski, J, Aznarez, I
مصطلحات موضوعية: Exons - genetics, Cystic Fibrosis Transmembrane Conductance Regulator - genetics, Cystic Fibrosis - genetics, Arginine - genetics, Alternative Splicing - genetics
Relation: Journal of Medical Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-34248368508&selection=ref&src=s&origin=recordpage; Journal Of Medical Genetics, 2007, v. 44 n. 5, p. 341-346; 346; WOS:000246177200008; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=44&issue=5&spage=341&epage=346&date=2007&atitle=Exon+skipping+through+the+creation+of+a+putative+exonic+splicing+silencer+as+a+consequence+of+the+cystic+fibrosis+mutation+R553X; PMC2597982; eid_2-s2.0-34248368508; 341; http://hdl.handle.net/10722/143112; 44
الاتاحة: https://doi.org/10.1136/jmg.2006.045880
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=44&issue=5&spage=341&epage=346&date=2007&atitle=Exon+skipping+through+the+creation+of+a+putative+exonic+splicing+silencer+as+a+consequence+of+the+cystic+fibrosis+mutation+R553X
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8Academic Journal
المؤلفون: Brais, B, Bouchard, J-P, Xie, Y-G, Rochefort, DL, Chrétien, N, Tomé, FMS, Lafrenière, RG, Rommens, JM, Uyama, E, Nohira, O, Blumen, S, Korcyn, AD, Heutink, P, Mathieu, J, Duranceau, A, Codère, F, Fardeau, M, Rouleau, GA
المصدر: Brais , B , Bouchard , J-P , Xie , Y-G , Rochefort , DL , Chrétien , N , Tomé , FMS , Lafrenière , RG , Rommens , JM , Uyama , E , Nohira , O , Blumen , S , Korcyn , AD , Heutink , P , Mathieu , J , Duranceau , A , Codère , F , Fardeau , M & Rouleau , GA 1998 , ' Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy ' , Nature Genetics , vol. 18 , pp. 164-167 . https://doi.org/10.1038/ng0298-164
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Rommens, JM, Hou, YX, Tsui, LC, Linsdell, P, Chang, XB, Riordan, JR, Hanrahan, JW, Tabcharani, JA
مصطلحات موضوعية: Lyotropic sequence, Anion permeation, Channel selectivity, Cystic fibrosis, Pore size, Membrane potentials - physiology, Anions - metabolism, Cystic fibrosis transmembrane conductance regulator - genetics - metabolism, Gene expression regulation, Ion channel gating - genetics - physiology
وصف الملف: 235272 bytes; 30208 bytes; application/pdf; application/msword
Relation: Journal of General Physiology; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0030885564&selection=ref&src=s&origin=recordpage; Journal Of General Physiology, 1997, v. 110 n. 4, p. 355-364; 364; WOS:A1997YA24400003; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-1295&volume=110&issue=4&spage=355&epage=364&date=1997&atitle=Permeability+of+Wild-Type+and+Mutant+Cystic+Fibrosis+Transmembrane+Conductance+Regulator+Chloride+Channels+to+Polyatomic+Anions; PMC2229373; 9379168; eid_2-s2.0-0030885564; 355; http://hdl.handle.net/10722/42306; 110
الاتاحة: https://doi.org/10.1085/jgp.110.4.355
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-1295&volume=110&issue=4&spage=355&epage=364&date=1997&atitle=Permeability+of+Wild-Type+and+Mutant+Cystic+Fibrosis+Transmembrane+Conductance+Regulator+Chloride+Channels+to+Polyatomic+Anions
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10Academic Journal
المؤلفون: Markiewicz, D, Tsui, LC, Kerem, B, Zielenski, J, Bozon, D, Gazit, E, Yahav, J, Kennedy, D, Riordan, JR, Collins, FS, Rommens, JM
مصطلحات موضوعية: missense mutation, genetic disease, nonsense mutation, pancreatic function, mutational hot spot
Relation: Proceedings of the National Academy of Sciences of the United States of America; Proceedings Of The National Academy Of Sciences Of The United States Of America, 1990, v. 87 n. 21, p. 8447-8451; 8451; WOS:A1990EG22000054; 21; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0027-8424&volume=87&issue=21&spage=8447&epage=8451&date=1990&atitle=Identification+of+mutations+in+regions+corresponding+to+the+2+putative+nucleotide+(ATP)-binding+folds+of+the+cystic+fibrosis+gene; PMC54973; 2236053; eid_2-s2.0-0025133518; 8447; http://hdl.handle.net/10722/44239; 87
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11Academic Journal
المؤلفون: Zambetti, Noemi, Bindels, Eric, Strien, Paulette, Valkhof, Marijke, Adisty, Maria, Hoogenboezem, Remco, Sanders, Mathijs, Rommens, JM, Touw, Ivo, Raaijmakers, Marc
المصدر: Zambetti , N , Bindels , E , Strien , P , Valkhof , M , Adisty , M , Hoogenboezem , R , Sanders , M , Rommens , JM , Touw , I & Raaijmakers , M 2015 , ' Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes ' , Haematologica , vol. 100 , no. 10 , pp. 1285-1293 . https://doi.org/10.3324/haematol.2015.131573
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM024103, name=EMC MM-02-41-03, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM024104, name=EMC MM-02-41-04
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12Academic Journal
المؤلفون: Raaijmakers, MHGP, Mukherjee, S, Guo, S, Zhang, S, Kobayashi, T, Schoonmaker, JA, Ebert, BL, Al-Shahrour, F, Hasserjian, RP, Scadden, EO, Aung, Z, Matza, M, Merkenschlager, M, Lin, C, Rommens, JM, Scadden, DT
المساهمون: Medical Research Council (MRC)
مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, STEM-CELL NICHE, SHWACHMAN-DIAMOND-SYNDROME, HEMATOPOIETIC PROGENITORS, MARROW MICROENVIRONMENT, DIFFERENTIATION, CANCER, DICER, IDENTIFICATION, EXPRESSION, PATHWAYS, Animals, Bone Marrow, Bone and Bones, Cell Differentiation, Cell Lineage, Female, Gene Deletion, Hematopoiesis, Leukemia, Myeloid, Acute, Male, Mesoderm, Mice, Myelodysplastic Syndromes, Osteoblasts, Phenotype
Relation: Nature; http://hdl.handle.net/10044/1/71524; https://doi.org/10.1038/nature08851; PO4050659629
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13Academic Journal
المؤلفون: TOTARO A, GRIFA A, CARELLA M, ROMMENS JM, VALENTINO MA, ROETTO A, ZELANTE L, GASPARINI, PAOLO
المساهمون: Totaro, A, Grifa, A, Carella, M, Rommens, Jm, Valentino, Ma, Roetto, A, Zelante, L, Gasparini, Paolo
Relation: volume:250; firstpage:555; lastpage:7; journal:BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; http://hdl.handle.net/11368/1695500
الاتاحة: http://hdl.handle.net/11368/1695500
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14Academic Journal
المؤلفون: Grifa A, Totaro A, Rommens JM, Carella M, Borgato L, Zelante L, Gasparini P., ROETTO, Antonella
المساهمون: Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P
Relation: info:eu-repo/semantics/altIdentifier/pmid/9753614; volume:250; issue:2; firstpage:240; lastpage:245; numberofpages:6; journal:BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; http://hdl.handle.net/2318/147885
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15Academic Journal
المؤلفون: Rommens, JM, Frey, BJ, Aznarez, I, Tsui, LC, Zielenski, J, Barash, Y, He, D, Shai, O, Parkinson, J, Blencowe, BJ
مصطلحات موضوعية: Poly(A)-Binding Proteins - antagonists and inhibitors - genetics - physiology, Alternative Splicing, Introns, RNA-Binding Proteins - antagonists and inhibitors - genetics - physiology, Regulatory Sequences, Ribonucleic Acid
Relation: Genome Research; http://www.scopus.com/mlt/select.url?eid=2-s2.0-48949103996&selection=ref&src=s&origin=recordpage; Genome Research, 2008, v. 18 n. 8, p. 1247-1258; 6702616; 1258; WOS:000258116100006; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1088-9051&volume=18&issue=8&spage=1247&epage=1258&date=2008&atitle=A+systematic+analysis+of+intronic+sequences+downstream+of+5%27+splice+sites+reveals+a+widespread+role+for+U-rich+motifs+and+TIA1/TIAL1+proteins+in+alternative+splicing+regulation; PMC2493427; eid_2-s2.0-48949103996; 1247; http://hdl.handle.net/10722/138687; 18
الاتاحة: https://doi.org/10.1101/gr.073155.107
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1088-9051&volume=18&issue=8&spage=1247&epage=1258&date=2008&atitle=A+systematic+analysis+of+intronic+sequences+downstream+of+5%27+splice+sites+reveals+a+widespread+role+for+U-rich+motifs+and+TIA1/TIAL1+proteins+in+alternative+splicing+regulation
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16Academic Journal
المؤلفون: Totaro A, Rommens JM, Grifa A, Lunardi C, Carella M, Huizenga JJ, Roetto A, De Sandre G, Gasparini P., CAMASCHELLA , CLARA
المساهمون: Totaro, A, Rommens, Jm, Grifa, A, Lunardi, C, Carella, M, Huizenga, Jj, Roetto, A, Camaschella, Clara, De Sandre, G, Gasparini, P.
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1996TU59200007; volume:31; firstpage:319; lastpage:326; numberofpages:8; journal:GENOMICS; http://hdl.handle.net/20.500.11768/16525
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17Academic Journal
المؤلفون: SHERRINGTON R, FROELICH S, SORBI S, CAMPION D, CHI H, ROGAEVA EA, LEVESQUE G, ROGAEV EI, LIN C, LIANG Y, IKEDA M, MAR L, BRICE A, AGID Y, PERCY ME, CLERGET DARPOUX F, PIACENTINI S, MARCON, Gabriella, NACMIAS B, AMADUCCI L, FREBOURG T, LANNFELT L, ROMMENS JM, ST GEORGE HYSLOP PH
المساهمون: Sherrington, R, Froelich, S, Sorbi, S, Campion, D, Chi, H, Rogaeva, Ea, Levesque, G, Rogaev, Ei, Lin, C, Liang, Y, Ikeda, M, Mar, L, Brice, A, Agid, Y, Percy, Me, CLERGET DARPOUX, F, Piacentini, S, Marcon, Gabriella, Nacmias, B, Amaducci, L, Frebourg, T, Lannfelt, L, Rommens, Jm, ST GEORGE HYSLOP, Ph
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1996VE06200016; volume:5(7); firstpage:985; lastpage:988; numberofpages:4; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11368/2930671
الاتاحة: http://hdl.handle.net/11368/2930671
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18Academic Journal
المؤلفون: BECQ F, JENSEN TJ, CHANG X-B, SAVOIA A., ROMMENS JM, TSUI L-C, BUCHWALD M, RIORDAN JR, HANRAHAN JW
المساهمون: Becq, F, Jensen, Tj, Chang, X-B, Savoia, A., Rommens, Jm, Tsui, L-C, Buchwald, M, Riordan, Jr, Hanrahan, Jw
Relation: volume:91; firstpage:9160; lastpage:9164; numberofpages:5; journal:PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; http://hdl.handle.net/11562/1064401
الاتاحة: http://hdl.handle.net/11562/1064401
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19Academic Journal
المؤلفون: Mäkitie, O, Ellis, L, Durie, PR, Morrison, JA, Sochett, EB, Rommens, JM, Cole, WG
المصدر: Clinical Genetics ; volume 65, issue 2, page 101-112 ; ISSN 0009-9163 1399-0004
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20
المؤلفون: Becq, F, Jensen, Tj, Chang, X. B., Savoia, Anna, Rommens, Jm, Tsui, L. C., Buchwald, M, Riordan, Jr, Hanrahan, Jw
المساهمون: Becq, F, Jensen, Tj, CHANG X., B, Savoia, Anna, Rommens, Jm, TSUI L., C, Buchwald, M, Riordan, Jr, Hanrahan, Jw
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