Propping P - Search Results

1

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

2

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.

3

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

4

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

5

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

6

Molecular diagnosis of trisomy 18 using DNA recovered from paraffin embedded tissues and possible implications for genetic counselling.

Eggermann T, Nöthen MM, Propping P, Schwanitz G. Eggermann T, et al. Among authors: propping p. Ann Genet. 1993;36(4):214-6. Ann Genet. 1993. PMID: 8166427

7

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

8

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

9

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. Bosse K, et al. Among authors: propping p. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877983 Free PMC article.

10

ADULT syndrome allelic to limb mammary syndrome (LMS)?

Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K. Propping P, et al. Am J Med Genet. 2000 Jan 17;90(2):179-82. Am J Med Genet. 2000. PMID: 10607963

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