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73 results

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Page 1
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Saadi I, et al. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21703590 Free PMC article.
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF. Saadi I, et al. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):175-81. doi: 10.1002/bdra.20226. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16498627 Free PMC article.
SUMO1 haploinsufficiency leads to cleft lip and palate.
Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. Alkuraya FS, et al. Among authors: saadi i. Science. 2006 Sep 22;313(5794):1751. doi: 10.1126/science.1128406. Science. 2006. PMID: 16990542
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Higgins AW, et al. Among authors: saadi i. Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Am J Hum Genet. 2008. PMID: 18319076 Free PMC article.
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Lachke SA, et al. Among authors: saadi i. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970. Science. 2011. PMID: 21436445 Free PMC article.
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL. Lachke SA, et al. Among authors: saadi i. Hum Genet. 2012 Feb;131(2):235-50. doi: 10.1007/s00439-011-1064-z. Epub 2011 Jul 17. Hum Genet. 2012. PMID: 21769484 Free PMC article.
SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I. Hall EG, et al. Among authors: saadi i. Hum Mol Genet. 2020 Mar 27;29(5):845-858. doi: 10.1093/hmg/ddaa002. Hum Mol Genet. 2020. PMID: 31943082 Free PMC article.
73 results