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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: tommerup n. BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z. Boonen SE, et al. Among authors: tommerup n. Am J Med Genet A. 2005 Jan 30;132A(3):324-8. doi: 10.1002/ajmg.a.30422. Am J Med Genet A. 2005. PMID: 15690381 Review.
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
Klitten LL, Tommerup N, Hjalgrim H, Møller RS. Klitten LL, et al. Among authors: tommerup n. Am J Med Genet A. 2009 May;149A(5):1086-8. doi: 10.1002/ajmg.a.32823. Am J Med Genet A. 2009. PMID: 19396830 No abstract available.
348 results