Zobrazeno 1 - 10
of 1 192
pro vyhledávání: '"Antonarakis, SE"'
Autor:
Illouz, T, Biragyn, A, Iulita, MF, Flores-Aguilar, L, Dierssen, M, De Toma, I, Antonarakis, SE, Yu, E, Herault, Y, Potier, MC, Botte, A, Roper, R, Sredni, B, London, J, Mobley, W, Strydom, A, Okun, E, T21RS COVID-19 Initiative
Publikováno v:
Frontiers in Immunology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
The risk of severe outcomes following respiratory tract infections is significantly increased in individuals over 60 years, especially in those with chronic medical conditions, i.e., hypertension, diabetes, cardiovascular disease, dementia, chronic r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ae463d3015a4f94848f005b3eff1f3af
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4607
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4607
Autor:
Illouz, T, Biragyn, A, Frenkel-Morgenstern, M, Weissberg, O, Gorohovski, A, Merzon, E, Green, I, Iulita, F, Flores-Aguilar, L, Dierssen, M, De Toma, I, Lifshitz, H, Antonarakis, SE, Yu, EE, Herault, Y, Potier, MC, Botte, A, Roper, R, Sredni, B, Sarid, R, London, J, Mobley, W, Strydom, A, Okun, E
Publikováno v:
NEUROMOLECULAR MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
A correction to this paper has been published: https://doi.org/10.1007/s12017-021-08657-z
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::111a0087c9284377dd40e75ffcb26d92
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4739
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4739
Autor:
Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
Autor:
Guo, T, Repetto, GM, McDonald McGinn, DM, Chung, JH, Nomaru, H, Campbell, CL, Blonska, A, Bassett, AS, Chow, EWC, Mlynarski, EE, Swillen, A, Vermeesch, J, Devriendt, K, Gothelf, D, Carmel, M, Michaelovsky, E, Schneider, M, Eliez, S, Antonarakis, SE, Coleman, K, Tomita-Mitchell, A, Mitchell, ME, Digilio, MC, Dallapiccola, B, Marino, B, Philip, N, Busa, T, Kushan-Wells, L, Bearden, CE, Piotrowicz, M, Hawuła, W, Roberts, AE, Tassone, F, Simon, TJ, Van Duin, EDA, Van Amelsvoort, TA, Kates, WR, Zackai, E, Johnston, HR, Cutler, DJ, Agopian, AJ, Goldmuntz, E, Mitchell, LE, Wang, T, Emanuel, BS, Morrow, BE
Publikováno v:
Guo, T; Repetto, GM; McDonald McGinn, DM; Chung, JH; Nomaru, H; Campbell, CL; et al.(2017). Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation: Cardiovascular Genetics, 10(5). doi: 10.1161/CIRCGENETICS.116.001690. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/7hp1507k
© 2017 The Authors. Background - The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::e7bc9daed0c704ea95eb91352a5daaf0
http://www.escholarship.org/uc/item/7hp1507k
http://www.escholarship.org/uc/item/7hp1507k
Autor:
Srivastava, AK, Wang, Y, Huang, R, Skinner, C, Thompson, T, Pollard, L, Wood, T, Luo, F, Stevenson, R, Polimanti, R, Gelernter, J, Lin, X, Lim, IY, Wu, Y, Teh, AL, Chen, L, Aris, IM, Soh, SE, Tint, MT, MacIsaac, JL, Yap, F, Kwek, K, Saw, SM, Kobor, MS, Meaney, MJ, Godfrey, KM, Chong, YS, Holbrook, JD, Lee, YS, Gluckman, PD, Karnani, N, GUSTO study group, Kapoor, A, Lee, D, Chakravarti, A, Maercker, C, Graf, F, Boutros, M, Stamoulis, G, Santoni, F, Makrythanasis, P, Letourneau, A, Guipponi, M, Panousis, N, Garieri, M, Ribaux, P, Falconnet, E, Borel, C, Antonarakis, SE, Kumar, S, Curran, J, Blangero, J, Chatterjee, S, Akiyama, J, Auer, D, Berrios, C, Pennacchio, L, Donti, TR, Cappuccio, G, Miller, M, Atwal, P, Kennedy, A, Cardon, A, Bacino, C, Emrick, L, Hertecant, J, Baumer, F, Porter, B, Bainbridge, M, Bonnen, P, Graham, B, Sutton, R, Sun, Q, Elsea, S, Hu, Z, Wang, P, Zhu, Y, Zhao, J, Xiong, M, Bennett, David A, Hidalgo-Miranda, A, Romero-Cordoba, S, Rodriguez-Cuevas, S, Rebollar-Vega, R, Tagliabue, E, Iorio, M, D’Ippolito, E, Baroni, S, Kaczkowski, B, Tanaka, Y, Kawaji, H, Sandelin, A, Andersson, R, Itoh, M, Lassmann, T, The FANTOM5 Consortium, Hayashizaki, Y, Carninci, P
Publikováno v:
Human genomics, vol 10 Suppl 1, iss Suppl 1
O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c898008b1ebaba6de2ed58a103d0f7f6
https://escholarship.org/uc/item/701873z5
https://escholarship.org/uc/item/701873z5
Autor:
De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, DI BERNARDO, DIEGO, Banfi S, BALLABIO, ANDREA, Cobellis G.
BACKGROUND: Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21. RESULTS: To elucidate the extent to which the dosage imbalance of specific human chromosome 21 genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e2033ae6bd88f1c37f977fab5d79baa0
http://hdl.handle.net/11591/217683
http://hdl.handle.net/11591/217683
Publikováno v:
Am J Hum Genet.
Autor:
Fellay, J, Shianna, Kv, Ge, Dl, Colombo, S, Ledergerber, B, Weale, M, Zhang, Kl, Gumbs, C, Castagna, A, Cossarizza, A, Cozzi Lepri, A, DE LUCA, Andrea, Easterbrook, P, Francioli, P, Mallal, S, Martinez Picado, J, Miro, Jm, Obel, N, Smith, Jp, Wyniger, J, Descombes, P, Antonarakis, Se, Letvin, Nl, Mcmichael, Aj, Haynes, Bf, Telenti, A, Goldstein, Db
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1820::fe5a2ef83500364b05f71acb1cdf561b
https://hdl.handle.net/11365/1011687
https://hdl.handle.net/11365/1011687
Objective: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (WBS). Methods: The first proposed method, named paralogous sequence quantification (PSQ), is based on the use of paralogou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::ed554e1746c58e30b691a4b8d93df30d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3099012
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3099012