Wegner RD - Search Results

1

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

Nothwang HG, Kim HG, Aoki J, Geisterfer M, Kübart S, Wegner RD, van Moers A, Ashworth LK, Haaf T, Bell J, Arai H, Tommerup N, Ropers HH, Wirth J. Nothwang HG, et al. Among authors: wegner rd. Hum Mol Genet. 2001 Apr 1;10(8):797-806. doi: 10.1093/hmg/10.8.797. Hum Mol Genet. 2001. PMID: 11285245

2

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.

Tommerup N, Mortensen E, Nielsen MH, Wegner RD, Schindler D, Mikkelsen M. Tommerup N, et al. Among authors: wegner rd. Hum Genet. 1993 Oct;92(4):339-46. doi: 10.1007/BF01247331. Hum Genet. 1993. PMID: 7693575

3

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K. Saar K, et al. Among authors: wegner rd. Am J Hum Genet. 1997 Mar;60(3):605-10. Am J Hum Genet. 1997. PMID: 9042920 Free PMC article.

4

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D. Sandoval N, et al. Among authors: wegner rd. Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. Hum Mol Genet. 1999. PMID: 9887333

5

Predominance of null mutations in ataxia-telangiectasia.

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: wegner rd. Hum Mol Genet. 1996 Apr;5(4):433-9. doi: 10.1093/hmg/5.4.433. Hum Mol Genet. 1996. PMID: 8845835 Free article.

6

Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.

Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner RD, Bollmann R, Becker R, Schulzke I, Körner H. Urban M, et al. Among authors: wegner rd. Am J Med Genet. 2002 Mar 1;108(2):97-104. doi: 10.1002/ajmg.10215. Am J Med Genet. 2002. PMID: 11857558 Review.

7

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: wegner rd. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362

8

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.

Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Hinkel GK, Meitinger T, Wegner RD. Schuffenhauer S, et al. Among authors: wegner rd. Hum Genet. 1995 Nov;96(5):562-71. doi: 10.1007/BF00197412. Hum Genet. 1995. PMID: 8530004

9

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J. Stuhrmann M, et al. Among authors: wegner rd. Hum Genet. 1991 Feb;86(4):414-5. doi: 10.1007/BF00201848. Hum Genet. 1991. PMID: 1999345

10

Ring Y chromosome: cytogenetic and molecular characterization.

Wegner RD, Scherer G, Pohlschmidt M, L'Allemand D, Gal A. Wegner RD, et al. Clin Genet. 1992 Aug;42(2):71-5. doi: 10.1111/j.1399-0004.1992.tb03142.x. Clin Genet. 1992. PMID: 1424234

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