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Severe mental retardation and macroorchidism without mutation in the FMR1 gene.
Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: tariverdian g. Am J Med Genet. 1996 Aug 9;64(2):408-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844093 Review.
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Jensen LR, et al. Among authors: tariverdian g. Am J Hum Genet. 2005 Feb;76(2):227-36. doi: 10.1086/427563. Epub 2004 Dec 7. Am J Hum Genet. 2005. PMID: 15586325 Free PMC article.
Two sisters with Escobar syndrome.
Spranger S, Spranger M, Meinck HM, Tariverdian G. Spranger S, et al. Among authors: tariverdian g. Am J Med Genet. 1995 Jul 3;57(3):425-8. doi: 10.1002/ajmg.1320570312. Am J Med Genet. 1995. PMID: 7677145
Bilateral radial deficiency with lower limb involvement.
Spranger S, Weber M, Tröger J, Tariverdian G, Opitz JM. Spranger S, et al. Among authors: tariverdian g. Am J Med Genet. 1996 May 3;63(1):193-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<193::AID-AJMG34>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8723109
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, Hager D, Tariverdian G, Tröger J, Rappold G. Spranger S, et al. Among authors: tariverdian g. Am J Med Genet. 1999 Apr 23;83(5):367-71. doi: 10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10232745
59 results