Publikationen 2005

• Wieacker P, Muschke P, Pollak KH, Müller R: Autosomal recessive non-immune hydrops fetalis caused by systemic lympangiectasia. Am J Med. Genet 132A:318-319, 2005
• Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bönnemann CG, Korinthenberg R: p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 57:148-151, 2005
• Volleth M, Stumm M, Bürger J, Muschke P, Wieacker P: Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14. Cytogenet Genome Res 108:283-286, 2005
• Pelz AF, Weilepp G, Wieacker P: Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting. Cancer Genet Cytogenet 156:59-61, 2005
• Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibeak M, Nylandsted Krogh L, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple K, Dennis NR, Van der Kamp MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A: Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 48:97-111, 2005
• Wieland I, Sabathil J, Ostendorf A, Rittinger O, Röpke A, Winnepenninckx B, Kooy F, Holinski-Feder E, Wieacker P: A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. Neurogenetics 6:45-47, 2005
• Pelz AF, Müller G, Wieacker P: Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia. Cancer Genet Cytogenet 157:157-159
• Kalinski T, Krueger S, Pelz AF, Wieacker P, Hartig R, Röpke M, Schneider-Stock R, Dombrowski F, Roessner A: Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarkoma in Ollier's disease. Virchows Arch 446:287-299, 2005
• Horn LC, Limbach A, Hoepffner W, Tröbs RB, Keller E, Froster UG, Richter CE, Jakubiczka S: Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes. Pediatr Dev Pathol 8:197-203, 2005
• Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck-Lehmann U, Mohnike K, Thiele H, Zierler H, Brewer C, Wieacker P: Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res 63:263-269, 2005
• Robinson P, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S: Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis. Am J Med Genet 135A:251-262, 2005
• Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P: Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat 26:113-118, 2005
• Wieacker P, Hehr U, Gromoll J, Ludwig M: Empfehlungen zur genetischen Diagnostik bei Aborten. J Reproduktionsmed Endokrinol 2:148-150, 2005
• Röpke A, Buhtz P, Böhm M, Seger J, Wieland I, Allhoff EP, Wieacker PF: Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer. Oncogene 24:6667-6675, 2005
• Schulz S, Gerloff C, Kalinski T, Mawrin C, Kanakis D, Haas D, Hahn H, Wieacker P: Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn Ther 20:501-503, 2005
• Wieacker P, Wieland I: Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox. Mol Genet Metab 86:110-116, 2005
• Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle, K, Koehler K, Huebner A: Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 26:279-280, 2005
• Krause D, Jachau K, Wittig H, Muschke P, Szibor R: DNA-Muster und herkömmlicher Erkennungsdienst. Ein Vergleich. Rechtsmedizin 15:371-380, 2005