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Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Among authors: zierler h. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, Kroisel PM. Varon R, et al. Among authors: zierler h. Am J Med Genet A. 2007 Jan 1;143A(1):92-4. doi: 10.1002/ajmg.a.31540. Am J Med Genet A. 2007. PMID: 17103455 No abstract available.
Clinical, cytogenetic and molecular analysis of three 46,XX males.
Plöchl E, Vlasak I, Rittinger O, Bergendi E, Stopar M, Kurnik P, Nachtigall M, Zierler H, Rappold GA, Schiebel K. Plöchl E, et al. Among authors: zierler h. J Pediatr Endocrinol Metab. 1999 May-Jun;12(3):389-95. doi: 10.1515/jpem.1999.12.3.389. J Pediatr Endocrinol Metab. 1999. PMID: 10821218
28 results