Propping P - Search Results

1

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H. Brenk CH, et al. Among authors: propping p. Eur J Hum Genet. 2007 Jan;15(1):35-44. doi: 10.1038/sj.ejhg.5201718. Epub 2006 Oct 4. Eur J Hum Genet. 2007. PMID: 17024214

2

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.

Engels H, Ehrbrecht A, Zahn S, Bosse K, Vrolijk H, White S, Kalscheuer V, Hoovers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK. Engels H, et al. Among authors: propping p. Eur J Hum Genet. 2003 Sep;11(9):643-51. doi: 10.1038/sj.ejhg.5201028. Eur J Hum Genet. 2003. PMID: 12939649

3

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H. Zahn S, et al. Among authors: propping p. Am J Med Genet A. 2005 Nov 15;139(1):19-24. doi: 10.1002/ajmg.a.30995. Am J Med Genet A. 2005. PMID: 16222663

4

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H. Engels H, et al. Among authors: propping p. Am J Med Genet. 2002 Aug 1;111(2):205-9. doi: 10.1002/ajmg.10560. Am J Med Genet. 2002. PMID: 12210352 Review.

5

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.

Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG. Engels H, et al. Among authors: propping p. Neurology. 2007 Mar 6;68(10):743-50. doi: 10.1212/01.wnl.0000256367.70365.e0. Neurology. 2007. PMID: 17339581

6

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome.

von Bubnoff D, Kreiss-Nachtsheim M, Novak N, Engels E, Engels H, Behrend C, Propping P, de la Salle H, Bieber T. von Bubnoff D, et al. Among authors: propping p. Am J Med Genet A. 2004 Apr 30;126A(3):293-8. doi: 10.1002/ajmg.a.20592. Am J Med Genet A. 2004. PMID: 15054845

7

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P. Friedl W, et al. Among authors: propping p. Hum Genet. 2002 Jul;111(1):108-11. doi: 10.1007/s00439-002-0748-9. Epub 2002 Jun 13. Hum Genet. 2002. PMID: 12136244

8

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C. Rahner N, et al. Among authors: propping p. Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. Am J Med Genet A. 2008. PMID: 18409202 Review.

9

Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome).

Nöthen MM, Eggermann T, Erdmann J, Eiben B, Hofmann D, Propping P, Schwanitz G. Nöthen MM, et al. Among authors: propping p. Hum Genet. 1993 Oct;92(4):347-9. doi: 10.1007/BF01247332. Hum Genet. 1993. PMID: 8225314

10

Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients.

Mandl M, Caspari R, Jauch A, Böker T, Raschke H, Sengteller M, Propping P, Friedl W. Mandl M, et al. Among authors: propping p. Hum Genet. 1996 Feb;97(2):204-8. doi: 10.1007/BF02265266. Hum Genet. 1996. PMID: 8566954

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