Хайлтын үр дүнгүүд - Saadi, Irfan

Dominant Negative Dimerization of a Mutant Homeodomain Protein in Axenfeld-Rieger Syndrome -н Saadi, Irfan, Kuburas, Adisa, Engle, Jamison J., Russo, Andrew F.

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Isolation and Time-Lapse Imaging of Primary Mouse Embryonic Palatal Mesenchyme Cells to Analyze Collective Movement Attributes -н Goering, Jeremy P., Isai, Dona Greta, Czirok, Andras, Saadi, Irfan

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An Unusual Class of PITX2 Mutations in Axenfeld-Rieger Syndrome -н Saadi, Irfan, Toro, Rafael, Kuburas, Adisa, Semina, Elena, Murray, Jeffrey C., Russo, Andrew F.

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RNA-sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery -н Anand, Deepti, Kakrana, Atul, Siddam, Archana D., Huang, Hongzhan, Saadi, Irfan, Lachke, Salil A.

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Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development -н Saadi, Irfan, Das, Pragnya, Zhao, Minglian, Raj, Lakshmi, Ruspita, Intan, Xia, Yan, Papaioannou, Virginia E., Bei, Marianna

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SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects -н Goering, Jeremy P., Isai, Dona G., Hall, Everett G., Wilson, Nathan R., Kosa, Edina, Wenger, Luke W., Umar, Zaid, Yousaf, Abdul, Czirok, Andras, Saadi, Irfan

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Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia -н Dasouki, Majed J., Rafi, Syed K., Olm-Shipman, Adam J., Wilson, Nathan R., Abhyankar, Sunil, Ganter, Brigitte, Furness, L. Mike, Fang, Jianwen, Calado, Rodrigo T., Saadi, Irfan

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Anti-epileptic drug topiramate upregulates TGFβ1 and SOX9 expression in primary embryonic palatal mesenchyme cells: Implications for teratogenicity -н Rafi, Syed K., Goering, Jeremy P., Olm-Shipman, Adam J., Hipp, Lauren A., Ernst, Nicholas J., Wilson, Nathan R., Hall, Everett G., Gunewardena, Sumedha, Saadi, Irfan

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In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events -н Goering, Jeremy P, Wenger, Luke W, Stetsiv, Marta, Moedritzer, Michael, Hall, Everett G, Isai, Dona Greta, Jack, Brittany M, Umar, Zaid, Rickabaugh, Madison K, Czirok, Andras, Saadi, Irfan

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Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood -н Wang, Xiu-Ping, O'Connell, Daniel J., Lund, Jennifer J., Saadi, Irfan, Kuraguchi, Mari, Turbe-Doan, Annick, Cavallesco, Resy, Kim, Hyunsoo, Park, Peter J., Harada, Hidemitsu, Kucherlapati, Raju, Maas, Richard L.

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Protein Inhibitors of Activated STAT (Pias1 and Piasy) Differentially Regulate Pituitary Homeobox 2 (PITX2) Transcriptional Activity -н Wang, Jianbo, Sun, Zhao, Zhang, Zichao, Saadi, Irfan, Wang, Jun, Li, Xiao, Gao, Shan, Engle, Jamison J., Kuburas, Adisa, Fu, Xueyao, Yu, Wenjie, Klein, William H., Russo, Andrew F., Amendt, Brad A.

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Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation -н Sweat, Yan Yan, Sweat, Mason, Mansaray, Maurisa, Cao, Huojun, Eliason, Steven, Adeyemo, Waisu L., Gowans, Lord J.J., Eshete, Mekonen A, Anand, Deepti, Chalkley, Camille, Saadi, Irfan, Lachke, Salil A., Butali, Azeez, Amendt, Brad A.

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Exome Sequencing Provides Additional Evidence for the Involvement of ARHGAP29 in Mendelian Orofacial Clefting and Extends the Phenotypic Spectrum to Isolated Cleft Palate -н Liu, Huan, Busch, Tamara, Eliason, Steven, Anand, Deepti, Bullard, Steven, Gowans, Lord J.J, Nidey, Nichole, Petrin, Aline, Augustine-Akpan, Eno-Abasi, Saadi, Irfan, Dunnwald, Martine, Lachke, Salil A., Zhu, Ying, Adeyemo, Adebowale, Amendt, Brad, Roscioli, Tony, Cornell, Robert, Murray, Jeffrey, Butali, Azeez

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Functional characterization of NPM1–TYK2 fusion oncogene -н Kuravi, Sudhakiranmayi, Baker, Riley W., Mushtaq, Muhammad Umair, Saadi, Irfan, Lin, Tara L., Vivian, Carolyn J., Valluripalli, Anusha, Abhyankar, Sunil, Ganguly, Siddhartha, Cui, Wei, Elenitoba-Johnson, Kojo S. J., Welch, Danny R., Jensen, Roy A., Saunthararajah, Yogen, McGuirk, Joseph P., Balusu, Ramesh

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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting -н Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.

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The Cell-Adhesion Gene PVRL3 is Associated with Congenital Ocular Defects -н Lachke, Salil A., Higgins, Anne W., Inagaki, Maiko, Saadi, Irfan, Xi, Qiongchao, Long, Michelle, Quade, Bradley J., Talkowski, Michael E., Gusella, James F., Fujimoto, Atsuko, Robinson, Michael L., Yang, Ying, Duong, Quynh T., Shapira, Irit, Motro, Benny, Miyoshi, Jun, Takai, Yoshimi, Morton, Cynthia C., Maas, Richard L.

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A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals -н Carlson, Jenna C., Anand, Deepti, Butali, Azeez, Buxo, Carmen J., Christensen, Kaare, Deleyiannis, Frederic, Hecht, Jacqueline T., Moreno, Lina M., Orioli, Ieda M., Padilla, Carmencita, Shaffer, John R., Vieira, Alexandre R., Wehby, George L., Weinberg, Seth M., Murray, Jeffrey C., Beaty, Terri H., Saadi, Irfan, Lachke, Salil A., Marazita, Mary L., Feingold, Eleanor, Leslie, Elizabeth J.

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome -н Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H

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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes -н Bhoj, Elizabeth J., Haye, Damien, Toutain, Annick, Bonneau, Dominique, Nielsen, Irene Kibæk, Lund, Ida Bay, Bogaard, Pauline, Leenskjold, Stine, Karaer, Kadri, Wild, Katherine T, Grand, Katheryn L, Astiazaran, Mirena C., Gonzalez-Nieto, Luis A., Carvalho, Ana, Lehalle, Daphné, Amudhavalli, Shivarajan M, Repnikova, Elena, Saunders, Carol, Thiffault, Isabelle, Saadi, Irfan, Li, Dong, Hakonarson, Hakon, Vial, Yoann, Zackai, Elaine, Callier, Patrick, Drunat, Séverine, Verloes, Alain

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Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma -н Lachke, Salil A., Alkuraya, Fowzan S., Kneeland, Stephen C., Ohn, Takbum, Aboukhalil, Anton, Howell, Gareth R., Saadi, Irfan, Cavallesco, Resy, Yue, Yingzi, Tsai, Anne C-H., Nair, K. Saidas, Cosma, Mihai I., Smith, Richard S., Hodges, Emily, AlFadhli, Suad M., Al-Hajeri, Amal, Shamseldin, Hanan E., Behbehani, AbdulMutalib, Hannon, Gregory J., Bulyk, Martha L., Drack, Arlene V., Anderson, Paul J., John, Simon W. M., Maas, Richard L.

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