المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463Test SGUL Authors: Elmslie, Frances

الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://openaccess.sgul.ac.uk/id/eprint/115477Test/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest

المؤلفون: Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, Di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S

المساهمون: Gracia-Diaz, C, Zhou, Y, Yang, Q, Maroofian, R, Espana-Bonilla, P, Lee, Ch, Zhang, S, Padilla, N, Fueyo, R, Waxman, Ea, Lei, S, Otrimski, G, Li, D, Sheppard, Se, Mark, P, Harr, Mh, Hakonarson, H, Rodan, L, Jackson, A, Vasudevan, P, Powel, C, Mohammed, S, Maddirevula, S, Alzaidan, H, Faqeih, Ea, Efthymiou, S, Turchetti, V, Rahman, F, Maqbool, S, Salpietro, V, Ibrahim, Sh, Di Rosa, G, Houlden, H, Alharbi, Mn, Al-Sannaa, Na, Bauer, P, Zifarelli, G, Estaras, C, Hurst, Ace, Thompson, Ml, Chassevent, A, Smith-Hicks, Cl, de la Cruz, X, Holtz, Am, Elloumi, Hz, Hajianpour, Mj, Rieubland, C, Braun, D, Banka, S

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37433783; info:eu-repo/semantics/altIdentifier/wos/WOS:001037937100025; volume:14; issue:4109; firstpage:1; lastpage:18; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11570/3270568Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164446548

الإتاحة: https://doi.org/10.1038/s41467-023-39645-5Test
https://hdl.handle.net/11570/3270568Test

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

المؤلفون: Lesueur F., Easton D. F., Renault A. -L., Tavtigian S. V., Bernstein J. L., Kote-Jarai Z., Eeles R. A., Plaseska-Karanfia D., Feliubadalo L., Moles-Fernandez A., Santamarina-Pena M., Sanchez A. T., Lopez-Novo A., Porras L. -M., Blanco A., Capella G., de la Hoya M., Molina I. J., Osorio A., Pineda M., Rueda D., de la Cruz X., Diez O., Ruiz-Ponte C., Gutierrez-Enriquez S., Vega A., Lazaro C., Arun B., Herold N., Versmold B., Schmutzler R. K., Nguyen-Dumont T., Southey M. C., Dorling L., Dunning A. M., Ghiorzo P., Dalmasso B. S., Cavaciuti E., Le Gal D., Roberts N. J., Dominguez-Valentin M., Rookus M., Taylor A. M. R., Goldstein A. M., Goldgar D. E., Couch F., Kraft P., Weitzel J., Nathanson K., Domchek S., LaDuca H., Stoppa-Lyonnet D., Andrieu N.

المساهمون: Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.

مصطلحات موضوعية: ATM, Cancer risk, Cancer spectrum, Tumor profile, Variants classification

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34125377; info:eu-repo/semantics/altIdentifier/wos/WOS:000661358000001; firstpage:1; lastpage:17; numberofpages:17; journal:FAMILIAL CANCER; http://hdl.handle.net/11567/1051744Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107970671

الإتاحة: https://doi.org/10.1007/s10689-021-00248-yTest
http://hdl.handle.net/11567/1051744Test

المؤلفون: Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.

المصدر: Fam Cancer

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_specialty, Heterozygote, Variants classification, ATM, Cancer risk, Cancer spectrum, Tumor profiles, Population, Context (language use), Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, 030105 genetics & heredity, Article, 03 medical and health sciences, Ataxia Telangiectasia, 0302 clinical medicine, Neoplasms, Epidemiology, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Genetics (clinical), education.field_of_study, business.industry, Cancer, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Family medicine, Female, France, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f15fec2bfdc6211ab4a9d904d906f28Test
https://europepmc.org/articles/PMC9969796Test/

المؤلفون: Olivan M, Garcia-López M, Suárez L, Guiu M, Gros L, Méndez O, Rigau M, Reventós J, Segura MF, de Torres I, Planas J, de la Cruz X, Gomis RR, Morote J, Rodríguez-Barrueco R, Santamaria A

المصدر: Cancers
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: miRNAs, miRNA-135b, urologic and male genital diseases, prostate cancer, bone metastasis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::a9ddc658342076d32ba80f986d9e54deTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20467Test

المؤلفون: Viñas-Giménez L, Donadeu L, Alsina L, Rincón R, de la Campa EÁ, Esteve-Sole A, Català-Temprano A, Colobran R, de la Cruz X, Sayós J, Martínez-Gallo M

المصدر: INTERNATIONAL JOURNAL OF HEMATOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Cytotoxic T-lymphocytes, Familial hemophagocytic lymphohistiocytosis, Epstein–Barr virus infection, Natural killer cells, Munc18-2 protein, Munc18-1 protein, Cell degranulation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df3f99e39651a6b6519663dcf9e0fbc0Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17109Test

المؤلفون: Valls, E., Blanco-Garcia, N., Aquizu, N., Piedra, D., Estaras, C., de la Cruz, X., Martinez-Balbas, M. A.

المصدر: Nucleic Acids Research ; volume 35, issue 6, page 1958-1968 ; ISSN 0305-1048 1362-4962

الإتاحة: https://doi.org/10.1093/nar/gkl1113Test
http://academic.oup.com/nar/article-pdf/35/6/1958/6406556/gkl1113.pdfTest

المؤلفون: Ferrer-Costa, C., Gelpi, J. L., Zamakola, L., Parraga, I., de la Cruz, X., Orozco, M.

المصدر: Bioinformatics ; volume 21, issue 14, page 3176-3178 ; ISSN 1367-4803 1460-2059

الإتاحة: https://doi.org/10.1093/bioinformatics/bti486Test
http://academic.oup.com/bioinformatics/article-pdf/21/14/3176/741839/bti486.pdfTest

المؤلفون: Conde, L., Vaquerizas, J. M., Ferrer-Costa, C., de la Cruz, X., Orozco, M., Dopazo, J.

المصدر: Nucleic Acids Research ; volume 33, issue Web Server, page W501-W505 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gki476Test
http://academic.oup.com/nar/article-pdf/33/suppl_2/W501/7623576/gki476.pdfTest