Tommerup N - Search Results

1

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Bisgaard AM, Kirchhoff M, Tümer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Bisgaard AM, et al. Among authors: tommerup n. Am J Med Genet A. 2006 Oct 15;140(20):2180-7. doi: 10.1002/ajmg.a.31425. Am J Med Genet A. 2006. PMID: 16955412

2

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.

3

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.

Baekvad-Hansen M, Tümer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. Baekvad-Hansen M, et al. Among authors: tommerup n. Am J Med Genet A. 2006 Mar 1;140(5):427-33. doi: 10.1002/ajmg.a.31087. Am J Med Genet A. 2006. PMID: 16470726

4

Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers.

Bache I, Brondum-Nielsen K, Tommerup N. Bache I, et al. Among authors: tommerup n. Genet Med. 2007 Mar;9(3):185-7. doi: 10.1097/gim.0b013e3180314671. Genet Med. 2007. PMID: 17413423

5

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.

Sehested LT, Møller RS, Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z. Sehested LT, et al. Among authors: tommerup n. Am J Med Genet A. 2010 Dec;152A(12):3115-9. doi: 10.1002/ajmg.a.33476. Am J Med Genet A. 2010. PMID: 21082657

6

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Cingöz S, et al. Among authors: tommerup n. Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766. Am J Med Genet A. 2011. PMID: 21204233

7

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N. Gilling M, et al. Among authors: tommerup n. Eur J Med Genet. 2011 Jul-Aug;54(4):e383-8. doi: 10.1016/j.ejmg.2011.03.008. Epub 2011 Mar 21. Eur J Med Genet. 2011. PMID: 21426945

8

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Halgren C, et al. Among authors: tommerup n. Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805044 Free PMC article.

9

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.

Kirchhoff M, Rose H, Maahr J, Gerdes T, Bugge M, Tommerup N, Tümer Z, Lespinasse J, Jensen PK, Wirth J, Lundsteen C. Kirchhoff M, et al. Among authors: tommerup n. Eur J Hum Genet. 2000 Sep;8(9):661-8. doi: 10.1038/sj.ejhg.5200512. Eur J Hum Genet. 2000. PMID: 10980571

10

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Bugge M, Bruun-Petersen G, Brøndum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen PK, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen KR, Rasmussen K, Tommerup N. Bugge M, et al. Among authors: tommerup n. J Med Genet. 2000 Nov;37(11):858-65. doi: 10.1136/jmg.37.11.858. J Med Genet. 2000. PMID: 11073540 Free PMC article.

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