Citations for
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H.
Hum Mutat 33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. 2012
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.
Hum Mutat 33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20. 2012
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del((+/-)) stem cells.
Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J, Zetzmann M, Vogt J, Mautner VF, Kehrer-Sawatzki H.
Hum Mutat um Mutat. 2011 Dec 21. doi: 10.1002/humu.22013. [Epub ahead of print] 2011
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H.
Hum Mutat 32(2):213-9. doi: 10.1002/humu.21418. 2011
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.
Hum Mutat 31(6):742-51. 2010
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H.
J Med Genet 47(9):623-30. Epub 2010 Jun 12.PMID: 20543202 2010
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.
Hum Mutat 31(10):1163-73.PMID: 20725927 2010
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA.
Mol Syndromol 1(3):133-135. Epub 2010 Sep 14.PMID: 21031083 2010
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.
Bartelt-Kirbach B, Wuepping M, Dodrimont-Lattke M, Kaufmann D.
Neurogenetics eurogenetics. 2008 Oct 11. [Epub ahead of print] 2008
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.
Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, Vidaud D, Bièche I.
Eur J Hum Genet 16(12):1459-66. Epub 2008 Jul 23. 2008
11ADAP2, ATAD5, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, RNF135, SUZ12, TEFM, UTP6
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.
Nat Genet 39(8):963-5. Epub 2007 Jul 15. 2007
Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination.
Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.
Am J Hum Genet 81(6):1201-20. Epub 2007 Oct 31. 2007
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW.
Clin Genet 72(5):411-9. Epub 2007 Oct 3. 2007
Childhood overgrowth in patients with common NF1 microdeletions.
Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanova E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S.
Eur J Hum Genet 13(7):883-8. 2005
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.
Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P.
Genomics 85(2):273-9. 2005
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.
Venturin M, Bentivegna A, Moroni R, Larizza L, Riva P.
Ann Hum Genet 69(Pt 5):508-16. 2005
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.
Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P.
J Med Genet 41(1):35-41. No abstract available. 2004
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.
Am J Hum Genet 75(3):410-23. Epub 2004 Jul 15. 2004
Genomic organization and evolution of the NF1 microdeletion region.
De Raedt T, Brems H, Lopez-Correa C, Vermeesch JR, Marynen P, Legius E.
Genomics 84(2):346-60. 2004
20SUZ12, NF1, NF1DEL
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.
J Med Genet 40(7):520-5. No abstract available. 2003
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.
Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H,Kehrer-Sawatzki H.
Am J Hum Genet 69(3):516-27. Epub 2001 Jul 20. 2001
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L.
Am J Hum Genet 66(1):100-9. 2000
23ADAP2, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, TEFM, UTP6
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
Jenne DE, Tinschert S, Stegmann E, Reimann H, Nurnberg P, Horn D, Naumann I, Buske A, Thiel G.
Genomics 66(1):93-7. 2000
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
Streubel B, Latta E, Kehrer-Sawatzki H, Hoffmann GF, Fonatsch C, Rehder H.
Am J Med Genet 87(1):12-6 1999
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Rasmussen SA, et al.
J Med Genet 35 : 468-471. 1998
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
Wu BL, et al.
Hum Genet 99 : 209-213. 1997
A cytogenetic deletion, del(17) (q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Upadhyaya M, et al.
J Med Genet 33 : 148-152. 1996
The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
Leppig KA, et al.
Cytogenet Cell Genet 72 : 95-98. 1996
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.
Riva P, et al.
Hum Genet 98 : 646-650. 1996
Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2.
Schmidt MA, et al.
Am J Med Genet 28 : 771-777. 1987