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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Sogaard M, et al. Among authors: cingoz s. BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.
4q35 deletion and 10p15 duplication associated with immunodeficiency.
Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. Cingoz S, et al. Am J Med Genet A. 2006 Oct 15;140(20):2231-5. doi: 10.1002/ajmg.a.31431. Am J Med Genet A. 2006. PMID: 16964622
An excess of chromosome 1 breakpoints in male infertility.
Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: cingoz s. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911
A novel subtype of distal symphalangism affecting only the 4th finger.
Kjaer KW, Tiner M, Cingoz S, Karatosun V, Tommerup N, Mundlos S, Gunal I. Kjaer KW, et al. Among authors: cingoz s. Am J Med Genet A. 2009 Jul;149A(7):1571-3. doi: 10.1002/ajmg.a.32905. Am J Med Genet A. 2009. PMID: 19533773 No abstract available.
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E; University of Washington Center for Mendelian Genomics; Coe BP, Nickerson DA, Eichler EE. Cingöz S, et al. Eur J Med Genet. 2022 Jun;65(6):104497. doi: 10.1016/j.ejmg.2022.104497. Epub 2022 Apr 14. Eur J Med Genet. 2022. PMID: 35430327 Free PMC article.
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