Hahnemann JM - Search Results

1

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples.

Gede LB, Hahnemann JM, Tümer Z, Brøndum-Nielsen K, Grønskov K. Gede LB, et al. Among authors: hahnemann jm. Prenat Diagn. 2016 Jan;36(1):100-3. doi: 10.1002/pd.4752. Epub 2015 Dec 13. Prenat Diagn. 2016. PMID: 26590364 No abstract available.

2

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K. Boonen SE, et al. Among authors: hahnemann jm. Eur J Hum Genet. 2012 Jan;20(1):119-21. doi: 10.1038/ejhg.2011.140. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863059 Free PMC article.

3

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, Tümer Z, Grønskov K, Temple IK, Guldberg P, Tommerup N. Bak M, et al. Among authors: hahnemann jm. BMC Med Genet. 2016 Apr 14;17:29. doi: 10.1186/s12881-016-0292-4. BMC Med Genet. 2016. PMID: 27075368 Free PMC article.

4

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. Among authors: hahnemann jm. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

5

[There is no basis to doubt the reliability of prenatal diagnosis and counseling in Turner syndrome. Misleading registry studies].

Hahnemann JM, Brøndum-Nielsen K. Hahnemann JM, et al. Ugeskr Laeger. 1997 Oct 6;159(41):6084-6; discussion 6086-7. Ugeskr Laeger. 1997. PMID: 9381584 Danish. No abstract available.

6

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Boonen SE, Mackay DJ, Hahnemann JM, Docherty L, Grønskov K, Lehmann A, Larsen LG, Haemers AP, Kockaerts Y, Dooms L, Vu DC, Ngoc CT, Nguyen PB, Kordonouri O, Sundberg F, Dayanikli P, Puthi V, Acerini C, Massoud AF, Tümer Z, Temple IK. Boonen SE, et al. Among authors: hahnemann jm. Diabetes Care. 2013 Mar;36(3):505-12. doi: 10.2337/dc12-0700. Epub 2012 Nov 12. Diabetes Care. 2013. PMID: 23150280 Free PMC article.

7

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM. Boonen SE, et al. Among authors: hahnemann jm. Eur J Hum Genet. 2008 Apr;16(4):453-61. doi: 10.1038/sj.ejhg.5201993. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197189

8

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. BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.

9

[Quality assurance of chromosome examinations in the samples of amniotic fluid and placenta. A 6-year follow-up: no sign of analytic errors in 6384 samples].

Brøndum-Nielsen K, Hahnemann JM. Brøndum-Nielsen K, et al. Among authors: hahnemann jm. Ugeskr Laeger. 1999 Feb 8;161(6):803-4. Ugeskr Laeger. 1999. PMID: 10028888 Danish. No abstract available.

10

[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome].

Kjaergaard S, Hahnemann JM, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Kristiansen A, Brøndum-Nielsen K. Kjaergaard S, et al. Among authors: hahnemann jm. Ugeskr Laeger. 2008 Mar 31;170(14):1152-6. Ugeskr Laeger. 2008. PMID: 18405480 Danish.

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