Kehrer-Sawatzki H - Search Results

1

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE. Kuhl A, et al. Eur J Hum Genet. 2008 Mar;16(3):367-73. doi: 10.1038/sj.ejhg.5201980. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197198

2

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.

Kehrer-Sawatzki H, Häussler J, Krone W, Bode H, Jenne DE, Mehnert KU, Tümmers U, Assum G. Kehrer-Sawatzki H, et al. Hum Genet. 1997 Feb;99(2):237-47. doi: 10.1007/s004390050346. Hum Genet. 1997. PMID: 9048928

3

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. Jenne DE, et al. Am J Hum Genet. 2001 Sep;69(3):516-27. doi: 10.1086/323043. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468690 Free PMC article.

4

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.

Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H. Jenne DE, et al. Genes Chromosomes Cancer. 2003 Jun;37(2):111-20. doi: 10.1002/gcc.10206. Genes Chromosomes Cancer. 2003. PMID: 12696059

5

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. Petek E, et al. J Med Genet. 2003 Jul;40(7):520-5. doi: 10.1136/jmg.40.7.520. J Med Genet. 2003. PMID: 12843325 Free PMC article. No abstract available.

6

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.

Kehrer-Sawatzki H, Tinschert S, Jenne DE. Kehrer-Sawatzki H, et al. J Med Genet. 2003 Oct;40(10):e116. doi: 10.1136/jmg.40.10.e116. J Med Genet. 2003. PMID: 14569139 Free PMC article. No abstract available.

7

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.

8

Childhood overgrowth in patients with common NF1 microdeletions.

Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanová E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S. Spiegel M, et al. Eur J Hum Genet. 2005 Jul;13(7):883-8. doi: 10.1038/sj.ejhg.5201419. Eur J Hum Genet. 2005. PMID: 15856072

9

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

10

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2.

Kehrer-Sawatzki H, Udart M, Krone W, Baden R, Fahsold R, Thomas G, Schmucker B, Assum G. Kehrer-Sawatzki H, et al. Hum Genet. 1997 Jul;100(1):67-74. doi: 10.1007/s004390050467. Hum Genet. 1997. PMID: 9225971

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