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617 results

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Page 1
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z; BSTOP study group; Estonian Biobank research team; Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT. Dand N, et al. Among authors: kraus c. medRxiv [Preprint]. 2023 Oct 5:2023.10.04.23296543. doi: 10.1101/2023.10.04.23296543. medRxiv. 2023. PMID: 37873414 Free PMC article. Preprint.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: kraus c. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: kraus c. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Vulvar burning with erythematous macules of the vestibule.
Kassels A, Kraus CN. Kassels A, et al. Among authors: kraus cn. Int J Womens Dermatol. 2024 May 3;10(2):e148. doi: 10.1097/JW9.0000000000000148. eCollection 2024 Jun. Int J Womens Dermatol. 2024. PMID: 38706689 Free PMC article. No abstract available.
The three c's: vulvar exam terminology considerations for dermatologists.
Vikram EP, Rara MR, Kraus CN. Vikram EP, et al. Among authors: kraus cn. Int J Womens Dermatol. 2024 May 1;10(2):e147. doi: 10.1097/JW9.0000000000000147. eCollection 2024 Jun. Int J Womens Dermatol. 2024. PMID: 38694955 Free PMC article. No abstract available.
617 results