Monogenic diabetes syndromes:Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

Autor: Astuti, Dewi, Sabir, Ataf, Fulton, Piers, Zatyka, Malgorzata, Williams, Denise, Hardy, Carol, Milan, Gabriella, Favaretto, Francesca, Yu-Wai-Man, Patrick, Rohayem, Julia, López de Heredia, Miguel, Hershey, Tamara, Tranebjaerg, Lisbeth, Chen, Jian-Hua, Chaussenot, Annabel, Nunes, Virginia, Marshall, Bess, Mcafferty, Susan, Tillmann, Vallo, Maffei, Pietro, Paquis-Flucklinger, Veronique, Geberhiwot, Tarekign, Mlynarski, Wojciech, Parkinson, Kay, Picard, Virginie, Bueno, Gema Esteban, Dias, Renuka, Arnold, Amy, Richens, Caitlin, Paisey, Richard, Urano, Fumihiko, Semple, Robert, Sinnott, Richard, Barrett, Timothy G.

Publikováno v: Astuti, D, Sabir, A, Fulton, P, Zatyka, M, Williams, D, Hardy, C, Milan, G, Favaretto, F, Yu-Wai-Man, P, Rohayem, J, López de Heredia, M, Hershey, T, Tranebjaerg, L, Chen, J-H, Chaussenot, A, Nunes, V, Marshall, B, McAfferty, S, Tillmann, V, Maffei, P, Paquis-Flucklinger, V, Geberhiwot, T, Mlynarski, W, Parkinson, K, Picard, V, Bueno, G E, Dias, R, Arnold, A, Richens, C, Paisey, R, Urano, F, Semple, R, Sinnott, R & Barrett, T G 2017, ' Monogenic diabetes syndromes : Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia ', Human Mutation, vol. 38, no. 7, pp. 764-777 . https://doi.org/10.1002/humu.23233
Human Mutation
Astuti, D, Sabir, A, Fulton, P, Zatyka, M, Williams, D, Hardy, C, Milan, G, Favaretto, F, Yu-Wai-Man, P, Rohayem, J, López de Heredia, M, Hershey, T, Tranebjaerg, L, Chen, J H, Chaussenot, A, Nunes, V, Marshall, B, McAfferty, S, Tillmann, V, Maffei, P, Paquis-Flucklinger, V, Geberhiwot, T, Mlynarski, W, Parkinson, K, Picard, V, Bueno, G E, Dias, R, Arnold, A, Richens, C, Paisey, R, Urano, F, Semple, R, Sinnott, R & Barrett, T G 2017, ' Monogenic diabetes syndromes : Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia ', Human Mutation, vol. 38, no. 7, pp. 764-777 . https://doi.org/10.1002/humu.23233

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease‐associated variants (Decemb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::04006f33078851fd86a7a1585b00d2fb
https://curis.ku.dk/ws/files/195042041/Astuti_et_al_2017_Human_Mutation.pdf

Spatio-temporal Investigations on the Planktonic Organisms of the Middle Loire (France), During the Low Water Period: Biodiversity and Community Dynamics.

Autor: Picard, Virginie¹ vi-picard@wanadoo.fr, Lair, Nicole¹

Publikováno v: Hydrobiologia. Nov2005, Vol. 551 Issue 1, p69-86. 18p. 3 Diagrams, 7 Charts.

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Structure–activity relationship of isoform selective inhibitors of Rac1/1b GTPase nucleotide binding

Autor: Beausoleil, Eric, Chauvignac, Cédric, Taverne, Thierry, Lacombe, Sandrine, Pognante, Laure, Leblond, Bertrand, Pallares, Diego, Oliveira, Catherine De, Bachelot, Florence, Carton, Rachel, Peillon, Hélène, Coutadeur, Séverine, Picard, Virginie, Lambeng, Nathalie, Désiré, Laurent, Schweighoffer, Fabien

Publikováno v: In Bioorganic & Medicinal Chemistry Letters 2009 19(19):5594-5598

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