Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A replyKEHRER-SAWATZKI, Hildegard; MESSIAEN, Ludwine.Human genetics. 2003, Vol 113, Num 2, pp 188-190, issn 0340-6717, 3 p.Article

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplicationKEHRER-SAWATZKI, Hildegard; ASSUM, Günter; HAMEISTER, Horst et al.Human genetics. 2002, Vol 111, Num 4-5, pp 465-467, issn 0340-6717Article

Structural divergence between the human and chimpanzee genomesKEHRER-SAWATZKI, Hildegard; COOPER, David N.Human genetics. 2007, Vol 120, Num 6, pp 759-778, issn 0340-6717, 20 p.Article

Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primatesGOIDTS, Violaine; SZAMALEK, Justyna M; HAMEISTER, Horst et al.Human genetics. 2004, Vol 115, Num 2, pp 116-122, issn 0340-6717, 7 p.Article

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPasesKOHN, Matthias; STEINBACH, Peter; HAMEISTER, Horst et al.European journal of human genetics. 2004, Vol 12, Num 1, pp 29-37, issn 1018-4813, 9 p.Article

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriersCHOCHOLSKA, Sylwia; ROSSIER, Eva; BARBI, Gotthold et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 6, pp 604-610, issn 1552-4825, 7 p.Article

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 17q11.2KEHRER-SAWATZKI, Hildegard; KLUWE, Lan; FUNSTERER, Carsten et al.Human genetics. 2005, Vol 116, Num 6, pp 466-475, issn 0340-6717, 10 p.Article

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apesSZAMALEK, Justyna M; GOIDTS, Violaine; COOPER, David N et al.Human genetics. 2006, Vol 120, Num 1, pp 126-138, issn 0340-6717, 13 p.Article

Absence of Cutaneous Neurofibromas in an NF1 Patient With an Atypical Deletion Partially Overlapping the Common 1.4 Mb Microdeleted RegionKEHRER-SAWATZKI, Hildegard; SCHMID, Eva; FÜNSTERER, Carsten et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 6, pp 691-699, issn 1552-4825, 9 p.Article

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)KEHRER-SAWATZKI, Hildegard; WILDA, Monika; BRAUN, Veit M et al.Acta neuropathologica. 2002, Vol 104, Num 3, pp 231-240, issn 0001-6322Article

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?ZECHNER, Ulrich; WILDA, Monika; KEHRER-SAWATZKI, Hildegard et al.Trends in genetics (Regular ed.). 2001, Vol 17, Num 12, pp 697-701, issn 0168-9525Article

Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9KEHRER-SAWATZKI, Hildegard; SZAMALEK, Justyna M; TÄNZER, Simone et al.Genomics (San Diego, Calif.). 2005, Vol 85, Num 5, pp 542-550, issn 0888-7543, 9 p.Article

Elsevier wide genome comparisons reveal the origins of the human X chromosomeKOHN, Matthias; KEHRER-SAWATZKI, Hildegard; VOGEL, Walther et al.Trends in genetics (Regular ed.). 2004, Vol 20, Num 12, pp 598-603, issn 0168-9525, 6 p.Article

Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17KEHRER-SAWATZKI, Hildegard; SCHREINER, Bettina; TÄNZER, Simone et al.American journal of human genetics. 2002, Vol 71, Num 2, pp 375-388, issn 0002-9297Article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsSTEINMANN, Katharina; KLUWE, Lan; COOPER, David N et al.European journal of human genetics. 2008, Vol 16, Num 5, pp 572-580, issn 1018-4813, 9 p.Article

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosomeSZAMALEK, Justyna M; GOIDTS, Violaine; CHUZHANOVA, Nadia et al.Human genetics. 2005, Vol 117, Num 2-3, pp 168-176, issn 0340-6717, 9 p.Article

Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform NeurofibromasSTEINMANN, Katharina; KLUWE, Lan; FRIEDRICH, Reinhard E et al.Journal of investigative dermatology. 2009, Vol 129, Num 3, pp 615-621, issn 0022-202X, 7 p.Article

Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11) : case report and review of the literatureKEHRER-SAWATZKI, Hildegard; DAUMILLER, Eva; MÜLLER-NAVIA, Jutta et al.Prenatal diagnosis. 2005, Vol 25, Num 10, pp 954-959, issn 0197-3851, 6 p.Article

Silver-russell syndrome-like features in a patient carrying a novel NF1 mutationWIMMER, Katharina; DECKER, Mathias; MAYATEPEK, Ertan et al.Pediatric research. 2005, Vol 58, Num 6, pp 1265-1268, issn 0031-3998, 4 p.Article

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomaliesGLÄSER, Birgitta; ROSSIER, Eva; BARBI, Gotthold et al.American journal of medical genetics. 2003, Vol 116A, Num 1, pp 66-70, issn 0148-7299, 5 p.Article

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disordersFECHTEL, Kim; OSTERBUR, Marika L; KEHRER-SAWATZKI, Hildegard et al.Human genetics. 2011, Vol 130, Num 1, pp 149-166, issn 0340-6717, 18 p.Article

Reconstruction of a 450-My-old ancestral vertebrate protokaryotypeKOHN, Matthias; HÖGEL, Josef; VOGEL, Walther et al.Trends in genetics (Regular ed.). 2006, Vol 22, Num 4, pp 203-210, issn 0168-9525, 8 p.Article

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletionsKEHRER-SAWATZKI, Hildegard; VOGT, Julia; MUSSOTTER, Tanja et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 229-236, issn 1364-6745, 8 p.Article

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3KUHL, Angelika; MELBERG, Atle; MEINL, Edgar et al.European journal of human genetics. 2008, Vol 16, Num 3, pp 367-373, issn 1018-4813, 7 p.Article

The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscusSZAMALEK, Justyna M; GOIDTS, Violaine; SEARLE, Jeremy B et al.Genomics (San Diego, Calif.). 2006, Vol 87, Num 1, pp 39-45, issn 0888-7543, 7 p.Article