Mau-Holzmann U - Search Results

1

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: mau holzmann u. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.

2

A rapid microarray based whole genome analysis for detection of uniparental disomy.

Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. Altug-Teber O, et al. Hum Mutat. 2005 Aug;26(2):153-9. doi: 10.1002/humu.20198. Hum Mutat. 2005. PMID: 15968682

3

De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies.

Dufke A, Singer S, Borell-Kost S, Stotter M, Pflumm DA, Mau-Holzmann UA, Starke H, Mrasek K, Enders H. Dufke A, et al. Cytogenet Genome Res. 2006;114(3-4):342-50. doi: 10.1159/000094224. Cytogenet Genome Res. 2006. PMID: 16954677

4

Specific transcriptional changes in human fetuses with autosomal trisomies.

Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O. Altug-Teber O, et al. Cytogenet Genome Res. 2007;119(3-4):171-84. doi: 10.1159/000112058. Epub 2008 Feb 1. Cytogenet Genome Res. 2007. PMID: 18253026

5

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).

Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E. Eggermann T, et al. Am J Med Genet A. 2010 Jun;152A(6):1484-7. doi: 10.1002/ajmg.a.33398. Am J Med Genet A. 2010. PMID: 20503324

6

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature.

Wagner N, Guengoer E, Mau-Holzmann UA, Maden Z, Hoopmann M, Abele H, Kagan KO. Wagner N, et al. Fetal Diagn Ther. 2011;29(3):253-6. doi: 10.1159/000322421. Epub 2010 Dec 11. Fetal Diagn Ther. 2011. PMID: 21150175 Review.

7

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.

Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, Riess O, Bonin M. Schroeder C, et al. Bioinformatics. 2013 Jun 15;29(12):1562-4. doi: 10.1093/bioinformatics/btt174. Epub 2013 Apr 14. Bioinformatics. 2013. PMID: 23589652

8

Genome-wide UPD screening in patients with intellectual disability.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Schroeder C, et al. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7. Eur J Hum Genet. 2014. PMID: 24801762 Free PMC article.

9

Discordance between ultrasound and cell free DNA screening for monosomy X.

Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA. Kagan KO, et al. Arch Gynecol Obstet. 2016 Aug;294(2):219-24. doi: 10.1007/s00404-016-4077-y. Epub 2016 Mar 29. Arch Gynecol Obstet. 2016. PMID: 27022934 Review.

10

The impact of an audience response system on a summative assessment, a controlled field study.

Schmidt T, Gazou A, Rieß A, Rieß O, Grundmann-Hauser K, Falb R, Schadeck M, Heinrich T, Abeditashi M, Schmidt J, Mau-Holzmann UA, Schnabel KP. Schmidt T, et al. Among authors: mau holzmann ua. BMC Med Educ. 2020 Jul 13;20(1):218. doi: 10.1186/s12909-020-02130-4. BMC Med Educ. 2020. PMID: 32660496 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

45 results

Search Page