Große Deletion des NF1-Gens bei Neurofibromatose Typ 1: Frequenz, Ausmaß und klinische Relevanz

Applicant Professor Dr. Reinhard E. Friedrich

Subject Area Dentistry, Oral Surgery

Term from 2003 to 2007

Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 5410114

Final Report Year 2007

Final Report Abstract

No abstract available

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 75, 2004
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner V-F
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mut 23:111-116,2004
Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner V-F
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet. 2005 May;116(6):466-75
Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF