Kehrer-Sawatzki H - Search Results

1

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: kehrer sawatzki h. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.

2

Recombination hotspot in NF1 microdeletion patients.

López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. López-Correa C, et al. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991

3

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.

Kehrer-Sawatzki H, Messiaen L. Kehrer-Sawatzki H, et al. Hum Genet. 2003 Jul;113(2):188-90. doi: 10.1007/s00439-003-0955-z. Epub 2003 Apr 16. Hum Genet. 2003. PMID: 12698359 No abstract available.

4

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. Kehrer-Sawatzki H, et al. Am J Hum Genet. 2004 Sep;75(3):410-23. doi: 10.1086/423624. Epub 2004 Jul 15. Am J Hum Genet. 2004. PMID: 15257518 Free PMC article.

5

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.

Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. Kehrer-Sawatzki H, et al. Hum Genet. 2005 May;116(6):466-75. doi: 10.1007/s00439-005-1265-4. Epub 2005 Mar 18. Hum Genet. 2005. PMID: 15776250

6

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L. Wimmer K, et al. Genes Chromosomes Cancer. 2006 Mar;45(3):265-76. doi: 10.1002/gcc.20289. Genes Chromosomes Cancer. 2006. PMID: 16283621

7

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Wimmer K, Decker M, Mayatepek E, Beiglböck H, Eggermann T, Kehrer-Sawatzki H, Fonatsch C, Rosenbaum T. Wimmer K, et al. Pediatr Res. 2005 Dec;58(6):1265-8. doi: 10.1203/01.pdr.0000183661.81772.f8. Pediatr Res. 2005. PMID: 16306205

8

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E. Raedt TD, et al. Nat Genet. 2006 Dec;38(12):1419-23. doi: 10.1038/ng1920. Epub 2006 Nov 19. Nat Genet. 2006. PMID: 17115058

9

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. Steinmann K, et al. Am J Hum Genet. 2007 Dec;81(6):1201-20. doi: 10.1086/522089. Epub 2007 Oct 31. Am J Hum Genet. 2007. PMID: 17999360 Free PMC article.

10

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Eur J Hum Genet. 2008 May;16(5):572-80. doi: 10.1038/sj.ejhg.5202002. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212816

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