Cellular and molecular mechanisms underlying muscular dystrophy von Rahimov, Fedik, Kunkel, Louis M.

Volltext

Genetics of Nonsyndromic Orofacial Clefts von Rahimov, Fedik, Jugessur, Astanand, Murray, Jeffrey C.

Volltext

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies von Alexander, Matthew S., Rozkalne, Anete, Colletta, Alessandro, Spinazzola, Janelle M., Johnson, Samuel, Rahimov, Fedik, Meng, Hui, Lawlor, Michael W., Estrella, Elicia, Kunkel, Louis M., Gussoni, Emanuela

Volltext

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency von Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S

Volltext

Emerging preclinical animal models for FSHD von Lek, Angela, Rahimov, Fedik, Jones, Peter L, Kunkel, Louis M

Volltext

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms von Alexander, Matthew S, Casar, Juan Carlos, Motohashi, Norio, Vieira, Natássia M, Eisenberg, Iris, Marshall, Jamie L, Gasperini, Molly J, Lek, Angela, Myers, Jennifer A, Estrella, Elicia A, Kang, Peter B, Shapiro, Frederic, Rahimov, Fedik, Kawahara, Genri, Widrick, Jeffrey J, Kunkel, Louis M

Volltext

High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene von Rahimov, Fedik, Nieminen, Pekka, Kumari, Priyanka, Juuri, Emma, Nikopensius, Tiit, Paraiso, Kitt, German, Jakob, Karvanen, Antti, Kals, Mart, Elnahas, Abdelrahman G., Karjalainen, Juha, Kurki, Mitja, Palotie, Aarno, Heliövaara, Arja, Esko, Tõnu, Jukarainen, Sakari, Palta, Priit, Ganna, Andrea, Patni, Anjali P., Mar, Daniel, Bomsztyk, Karol, Mathieu, Julie, Ruohola-Baker, Hannele, Visel, Axel, Fakhouri, Walid D., Schutte, Brian C., Cornell, Robert A., Rice, David P.

Volltext

Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease von Palmer, Nathan P, Silvester, Jocelyn A, Lee, Jessica J, Beam, Andrew L, Fried, Inbar, Valtchinov, Vladimir I, Rahimov, Fedik, Kong, Sek Won, Ghodoussipour, Saum, Hood, Helen C, Bousvaros, Athos, Grand, Richard J, Kunkel, Louis M, Kohane, Isaac S

Volltext

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip von Rahimov, Fedik, Marazita, Mary L, Visel, Axel, Cooper, Margaret E, Hitchler, Michael J, Rubini, Michele, Domann, Frederick E, Govil, Manika, Christensen, Kaare, Bille, Camille, Melbye, Mads, Jugessur, Astanand, Lie, Rolv T, Wilcox, Allen J, Fitzpatrick, David R, Green, Eric D, Mossey, Peter A, Little, Julian, Steegers-Theunissen, Regine P, Pennacchio, Len A, Schutte, Brian C, Murray, Jeffrey C

Volltext

Functional characterization of a single nucleotide polymorphism associated with Alzheimer’s disease in a hiPSC-based neuron model von Stolzenburg, Lindsay R, Esmaeeli, Sahar, Kulkarni, Ameya S, Murphy, Erin, Kwon, Taekyung, Preiss, Christina, Bahnassawy, Lamiaa, Stender, Joshua D, Manos, Justine D, Reinhardt, Peter, Rahimov, Fedik, Waring, Jeffrey F, Ramathal, Cyril Y

Volltext

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9 von Schmitz-Abe, Klaus, Ciesielski, Szymon J., Schmidt, Paul J., Campagna, Dean R., Rahimov, Fedik, Schilke, Brenda A., Cuijpers, Marloes, Rieneck, Klaus, Lausen, Birgitte, Linenberger, Michael L., Sendamarai, Anoop K., Guo, Chaoshe, Hofmann, Inga, Newburger, Peter E., Matthews, Dana, Shimamura, Akiko, Snijders, Pieter J.L.M., Towne, Meghan C., Niemeyer, Charlotte M., Watson, Henry G., Dziegiel, Morten H., Heeney, Matthew M., May, Alison, Bottomley, Sylvia S., Swinkels, Dorine W., Markianos, Kyriacos, Craig, Elizabeth A., Fleming, Mark D.

Volltext

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers von Rahimov, Fedik, King, Oliver D, Leung, Doris G, Bibat, Genila M, Emerson, Charles P, Kunkel, Louis M, Wagner, Kathryn R

Volltext

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy von Stadler, Guido, Rahimov, Fedik, King, Oliver D, Chen, Jennifer C J, Robin, Jerome D, Wagner, Kathryn R, Shay, Jerry W, Emerson, Charles P, Wright, Woodring E

Volltext

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences von Ideozu, Justin E, Liu, Mengzhen, Riley-Gillis, Bridget M, Paladugu, Sri R, Rahimov, Fedik, Krishnan, Preethi, Tripathi, Rakesh, Dorr, Patrick, Levy, Hara, Singh, Ashvani, Waring, Jeffrey F, Vasanthakumar, Aparna

Volltext

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis von Pakula, Anna, Lek, Angela, Widrick, Jeffrey, Mitsuhashi, Hiroaki, Bugda Gwilt, Katlynn M, Gupta, Vandana A, Rahimov, Fedik, Criscione, June, Zhang, Yuanfan, Gibbs, Devin, Murphy, Quinn, Manglik, Anusha, Mead, Lillian, Kunkel, Louis

Volltext

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate von Vieira, Alexandre R, Avila, Joseph R, Daack-Hirsch, Sandra, Dragan, Ecaterina, Félix, Têmis M, Rahimov, Fedik, Harrington, Jill, Schultz, Rebecca R, Watanabe, Yoriko, Johnson, Marla, Fang, Jennifer, O'Brien, Sarah E, Orioli, Iêda M, Castilla, Eduardo E, Fitzpatrick, David R, Jiang, Rulang, Marazita, Mary L, Murray, Jeffrey C

Volltext

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis von LIDA JONES, Takako, CHEN, Jennifer C. J, WAGNER, Kathryn R, JONES, Peter L, RAHIMOV, Fedik, HOMMA, Sachiko, ARASHIRO, Patricia, BEERMANN, Mary Lou, KING, Oliver D, MILLER, Jeffrey B, KUNKEL, Louis M, EMERSON, Charles P

Volltext

GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum? von Rahimov, Fedik, Ribeiro, Lucilene Arilho, de Miranda, Eziquiel, Richieri-Costa, Antonio, Murray, Jeffrey C.

Volltext

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers von Mars, Nina, Koskela, Jukka T., Ripatti, Pietari, Kiiskinen, Tuomo T. J., Havulinna, Aki S., Lindbohm, Joni V., Ahola-Olli, Ari, Kurki, Mitja, Karjalainen, Juha, Palta, Priit, Neale, Benjamin M., Daly, Mark, Salomaa, Veikko, Palotie, Aarno, Widén, Elisabeth, Ripatti, Samuli

Volltext

Cellular and molecular mechanisms underlying muscular dystrophy von Rahimov, Fedik, Kunkel, Louis M

Volltext