Neesen J - Search Results

1

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K, Förster-Waldl E. Seidel MG, et al. Among authors: neesen j. J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431329 Free PMC article.

2

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. Sauter SM, et al. Among authors: neesen j. Am J Med Genet A. 2007 May 15;143A(10):1091-9. doi: 10.1002/ajmg.a.31686. Am J Med Genet A. 2007. PMID: 17431920

3

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Steinkellner H, et al. Among authors: neesen j. Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469541 Free PMC article.

4

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.

Springer S, Karner E, Worda C, Grabner MM, Seidl-Mlczoch E, Laccone F, Neesen J, Scharrer A, Ulm B. Springer S, et al. Among authors: neesen j. Life (Basel). 2022 Aug 12;12(8):1223. doi: 10.3390/life12081223. Life (Basel). 2022. PMID: 36013402 Free PMC article.

5

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Sauter SM, et al. Among authors: neesen j. Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205. Hum Mutat. 2004. PMID: 14695538

6

Alternative splicing, chromosome assignment and subcellular localization of the testicular haploid expressed gene (THEG).

Mannan A, Lücke K, Dixkens C, Neesen J, Kämper M, Engel W, Burfeind P. Mannan A, et al. Among authors: neesen j. Cytogenet Cell Genet. 2000;91(1-4):171-9. doi: 10.1159/000056840. Cytogenet Cell Genet. 2000. PMID: 11173852

7

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.

Neesen J, Drenckhahn JD, Tiede S, Burfeind P, Grzmil M, Konietzko J, Dixkens C, Kreutzberger J, Laccone F, Omran H. Neesen J, et al. Cytogenet Genome Res. 2002;98(1):38-44. doi: 10.1159/000068545. Cytogenet Genome Res. 2002. PMID: 12584439

8

Tep22, a novel testicular expressed gene, is involved in the biogenesis of the acrosome and the midpiece of the sperm tail.

Neesen J, Hartwich T, Brandhorst G, Aumüller G, Gläser B, Burfeind P, Mendoza-Lujambio I. Neesen J, et al. Biochem Biophys Res Commun. 2002 Oct 4;297(4):737-48. doi: 10.1016/s0006-291x(02)02265-9. Biochem Biophys Res Commun. 2002. PMID: 12359214

9

Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells.

Kaulfuss S, Grzmil M, Hemmerlein B, Thelen P, Schweyer S, Neesen J, Bubendorf L, Glass AG, Jarry H, Auber B, Burfeind P. Kaulfuss S, et al. Among authors: neesen j. Mol Endocrinol. 2008 Jul;22(7):1606-21. doi: 10.1210/me.2006-0546. Epub 2008 May 1. Mol Endocrinol. 2008. PMID: 18451096 Free PMC article.

10

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J. Sauter S, et al. Among authors: neesen j. Hum Mutat. 2002 Aug;20(2):127-32. doi: 10.1002/humu.10105. Hum Mutat. 2002. PMID: 12124993

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

61 results

Search Page