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Hildegard Kehrer-Sawatzki
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28
Hameister, Horst
20
Cooper, David
11
Kohn, Matthias
10
Goidts, Violaine
10
Szamalek, Justyna
9
Krone, Winfrid
8
Jenne, Dieter
8
Kluwe, Lan
8
Barbi, Gotthold
7
Assum, Günter
6
Chuzhanova, Nadia
6
Mautner, Victor-Felix
6
Tinschert, Sigrid
6
Vogel, Walther
6
Rossier, Eva
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All Publications
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2009: Chauvin Angélique; Chen Jian-Min; Quemener Sylvia; Masson Emmanuelle; Kehrer-Sawatzki Hildegard; Ohmle Barbara; Cooper David N; Le Maréchal Cédric; Férec Claude
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
Human molecular genetics 2009;18(19):3605-14.
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2009: Steinmann Katharina; Kluwe Lan; Friedrich Reinhard E; Mautner Victor-Felix; Cooper David N; Kehrer-Sawatzki Hildegard
Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
The Journal of investigative dermatology 2009;129(3):615-21.
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2009: Wolf Andreas; Millar David S; Caliebe Amke; Horan Martin; Newsway Vicky; Kumpf Dorothea; Steinmann Katharina; Chee Ik-Seung; Lee Young-Ho; Mutirangura Apiwat; Pepe Guglielmina; Rickards Olga; Schmidtke Jörg; Schempp Werner; Chuzhanova Nadia; Kehrer-Sawatzki Hildegard; Krawczak Michael; Cooper David N
A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Human mutation 2009;30(2):239-47.
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2009: Kemkemer Claus; Kohn Matthias; Kehrer-Sawatzki Hildegard; Fundele Reinald H; Hameister Horst
Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(6):811-20.
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2009: Kolb Jessica; Chuzhanova Nadia A; Högel Josef; Vasquez Karen M; Cooper David N; Bacolla Albino; Kehrer-Sawatzki Hildegard
Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(4):469-83.
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2009: Kemkemer Claus; Kohn Matthias; Cooper David N; Froenicke Lutz; Högel Josef; Hameister Horst; Kehrer-Sawatzki Hildegard
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution.
BMC evolutionary biology 2009;9():84.
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2008: Kehrer-Sawatzki H; Cooper D N
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
Journal of medical genetics 2008;45(10):622-31.
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2008: Steinmann Katharina; Kluwe Lan; Cooper David N; Brems Hilde; De Raedt Thomas; Legius Eric; Mautner Viktor-Felix; Kehrer-Sawatzki Hildegard
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
European journal of human genetics : EJHG 2008;16(5):572-80.
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2008: Kehrer-Sawatzki Hildegard; Schmid Eva; Fünsterer Carsten; Kluwe Lan; Mautner Victor-Felix
Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region.
American journal of medical genetics. Part A 2008;146A(6):691-9.
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2008: Kuhl Angelika; Melberg Atle; Meinl Edgar; Nürnberg Gudrun; Nürnberg Peter; Kehrer-Sawatzki Hildegard; Jenne Dieter E
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
European journal of human genetics : EJHG 2008;16(3):367-73.
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2008: Kehrer-Sawatzki H; Cooper D N
Comparative analysis of copy number variation in primate genomes.
Cytogenetic and genome research 2008;123(1-4):288-96.
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2008: Kehrer-Sawatzki Hildegard; Cooper David N
Copy number variation and disease. Preface.
Cytogenetic and genome research 2008;123(1-4):5-6.
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2008: Kehrer-Sawatzki Hildegard; Cooper David N
Molecular mechanisms of chromosomal rearrangement during primate evolution.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2008;16(1):41-56.
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2007: Steinmann Katharina; Cooper David N; Kluwe Lan; Chuzhanova Nadia A; Senger Cornelia; Serra Eduard; Lazaro Conxi; Gilaberte Montserrat; Wimmer Katharina; Mautner Viktor-Felix; Kehrer-Sawatzki Hildegard
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.
American journal of human genetics 2007;81(6):1201-20.
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2007: Kehrer-Sawatzki Hildegard
What a difference copy number variation makes.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(4):311-3.
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2007: Kehrer-Sawatzki Hildegard; Cooper David N
Structural divergence between the human and chimpanzee genomes.
Human genetics 2007;120(6):759-78.
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2007: Kehrer-Sawatzki Hildegard; Cooper David N
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.
Human mutation 2007;28(2):99-130.
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2007: Leybrand Sabine; Rossier Eva; Barbi Gotthold; Cooper David N; Kehrer-Sawatzki Hildegard
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.
Genomic medicine 2007;1(1-2):65-73.
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2007: Kohn M; Kehrer-Sawatzki H; Steinbach P; Marshall Graves J A; Hameister H
Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken.
Cytogenetic and genome research 2007;116(3):173-80.
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2007: Szamalek J M; Cooper D N; Hoegel J; Hameister H; Kehrer-Sawatzki H
Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions.
Cytogenetic and genome research 2007;116(1-2):53-60.
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2006: Raedt Thomas De; Stephens Matthew; Heyns Ine; Brems Hilde; Thijs Daisy; Messiaen Ludwine; Stephens Karen; Lazaro Conxi; Wimmer Katharina; Kehrer-Sawatzki Hildegard; Vidaud Dominique; Kluwe Lan; Marynen Peter; Legius Eric
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Nature genetics 2006;38(12):1419-23.
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2006: Goidts Violaine; Cooper David N; Armengol Lluis; Schempp Werner; Conroy Jeffrey; Estivill Xavier; Nowak Norma; Hameister Horst; Kehrer-Sawatzki Hildegard
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
Human genetics 2006;120(2):270-84.
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2006: Szamalek Justyna M; Goidts Violaine; Cooper David N; Hameister Horst; Kehrer-Sawatzki Hildegard
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.
Human genetics 2006;120(1):126-38.
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2006: Kohn Matthias; Högel Josef; Vogel Walther; Minich Peter; Kehrer-Sawatzki Hildegard; Graves Jennifer A M; Hameister Horst
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.
Trends in genetics : TIG 2006;22(4):203-10.
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2006: Chocholska Sylwia; Rossier Eva; Barbi Gotthold; Kehrer-Sawatzki Hildegard
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
American journal of medical genetics. Part A 2006;140(6):604-10.
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2006: Goidts Violaine; Armengol Lluis; Schempp Werner; Conroy Jeffrey; Nowak Norma; Müller Stefan; Cooper David N; Estivill Xavier; Enard Wolfgang; Szamalek Justyna M; Hameister Horst; Kehrer-Sawatzki Hildegard
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.
Human genetics 2006;119(1-2):185-98.
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2006: Szamalek Justyna M; Cooper David N; Schempp Werner; Minich Peter; Kohn Matthias; Hoegel Josef; Goidts Violaine; Hameister Horst; Kehrer-Sawatzki Hildegard
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.
Human genetics 2006;119(1-2):103-12.
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2006: Wimmer K; Yao S; Claes K; Kehrer-Sawatzki H; Tinschert S; De Raedt T; Legius E; Callens T; Beiglböck H; Maertens O; Messiaen L
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
Genes, chromosomes & cancer 2006;45(3):265-76.
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2006: Szamalek Justyna M; Goidts Violaine; Searle Jeremy B; Cooper David N; Hameister Horst; Kehrer-Sawatzki Hildegard
The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus.
Genomics 2006;87(1):39-45.
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2006: Kemkemer Claus; Kohn Matthias; Kehrer-Sawatzki Hildegard; Minich Peter; Högel Josef; Froenicke Lutz; Hameister Horst
Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2006;14(8):899-907.
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2005: Wimmer Katharina; Decker Mathias; Mayatepek Ertan; Beiglböck Harald; Eggermann Thomas; Kehrer-Sawatzki Hildegard; Fonatsch Christa; Rosenbaum Thorsten
Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.
Pediatric research 2005;58(6):1265-8.
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2005: Kehrer-Sawatzki Hildegard; Daumiller Eva; Müller-Navia Jutta; Kendziorra Heidemarie; Rossier Eva; du Bois Gabriele; Barbi Gotthold
Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
Prenatal diagnosis 2005;25(10):954-9.
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2005: Goidts Violaine; Szamalek Justyna M; de Jong Pieter J; Cooper David N; Chuzhanova Nadia; Hameister Horst; Kehrer-Sawatzki Hildegard
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.
Genome research 2005;15(9):1232-42.
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2005: Szamalek Justyna M; Goidts Violaine; Chuzhanova Nadia; Hameister Horst; Cooper David N; Kehrer-Sawatzki Hildegard
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.
Human genetics 2005;117(2-3):168-76.
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2005: Spiegel Miriam; Oexle Konrad; Horn Denise; Windt Elke; Buske Annegret; Albrecht Beate; Prott Eva-Christina; Seemanová Eva; Seidel Joerg; Rosenbaum Thorsten; Jenne Dieter; Kehrer-Sawatzki Hildegard; Tinschert Sigrid
Childhood overgrowth in patients with common NF1 microdeletions.
European journal of human genetics : EJHG 2005;13(7):883-8.
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2005: Kehrer-Sawatzki Hildegard; Szamalek Justyna M; Tänzer Simone; Platzer Matthias; Hameister Horst
Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.
Genomics 2005;85(5):542-50.
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2005: Kehrer-Sawatzki Hildegard; Kluwe Lan; Fünsterer Carsten; Mautner Victor-Felix
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.
Human genetics 2005;116(6):466-75.
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2005: Barbi G; Spaich Ch; Adolph S; Rossier E; Kehrer-Sawatzki H
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
American journal of medical genetics. Part A 2005;132(4):419-24.
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2005: Kehrer-Sawatzki Hildegard; Sandig Catharina; Chuzhanova Nadia; Goidts Violaine; Szamalek Justyna M; Tänzer Simone; Müller Stefan; Platzer Matthias; Cooper David N; Hameister Horst
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).
Human mutation 2005;25(1):45-55.
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2005: Kohn M; Kehrer-Sawatzki H; Hameister H
Localization of human X chromosomal mental retardation (MRX) genes in chicken and comparison with the chicken genome sequence data.
Cytogenetic and genome research 2005;108(4):342-7.
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2005: Kehrer-Sawatzki H; Sandig C A; Goidts V; Hameister H
Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans.
Cytogenetic and genome research 2005;108(1-3):91-7.
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2004: Kohn Matthias; Kehrer-Sawatzki Hildegard; Vogel Walther; Graves Jennifer A M; Hameister Horst
Wide genome comparisons reveal the origins of the human X chromosome.
Trends in genetics : TIG 2004;20(12):598-603.
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2004: Kehrer-Sawatzki H; Kluwe L; Sandig C; Kohn M; Wimmer K; Krammer U; Peyrl A; Jenne D E; Hansmann I; Mautner V-F
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.
American journal of human genetics 2004;75(3):410-23.
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2004: Goidts Violaine; Szamalek Justyna M; Hameister Horst; Kehrer-Sawatzki Hildegard
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 primates.
Human genetics 2004;115(2):116-22.
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2004: Gläser B; Shirneshan K; Bink K; Wirth J; Kehrer-Sawatzki H; Bartz U; Zoll B; Bohlander Stefan K
Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.
American journal of medical genetics. Part A 2004;126A(3):229-36.
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2004: Kluwe Lan; Siebert Reiner; Gesk Stefan; Friedrich Reinhard E; Tinschert Sigrid; Kehrer-Sawatzki Hildegard; Mautner Victor-F
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.
Human mutation 2004;23(2):111-6.
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2004: Kohn Matthias; Steinbach Peter; Hameister Horst; Kehrer-Sawatzki Hildegard
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.
European journal of human genetics : EJHG 2004;12(1):29-37.
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2003: Kehrer-Sawatzki H; Tinschert S; Jenne D E
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.
Journal of medical genetics 2003;40(10):e116.
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2003: Petek E; Jenne D E; Smolle J; Binder B; Lasinger W; Windpassinger C; Wagner K; Kroisel P M; Kehrer-Sawatzki H
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.
Journal of medical genetics 2003;40(7):520-5.
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2003: Kehrer-Sawatzki Hildegard; Messiaen Ludwine
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.
Human genetics 2003;113(2):188-90.
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2003: Jenne Dieter E; Tinschert Sigrid; Dorschner Michael O; Hameister Horst; Stephens Karen; Kehrer-Sawatzki Hildegard
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
Genes, chromosomes & cancer 2003;37(2):111-20.
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2003: Kohn Matthias; Hameister Horst; Vogel Marion; Kehrer-Sawatzki Hildegard
Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis.
Gene expression patterns : GEP 2003;3(2):173-7.
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2003: Barbi G; Spaich C; Adolph S; Kehrer-Sawatzki H
Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl.
Journal of medical genetics 2003;40(3):e27.
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2003: Gläser Birgitta; Rossier Eva; Barbi Gotthold; Chiaie Loredana Delle; Blank Christian; Vogel Walther; Kehrer-Sawatzki Hildegard
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
American journal of medical genetics. Part A 2003;116A(1):66-70.
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2002: Kehrer-Sawatzki Hildegard; Assum Günter; Hameister Horst
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.
Human genetics 2002;111(4-5):465-7; author reply 468-9.
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2002: Kehrer-Sawatzki Hildegard; Wilda Monika; Braun Veit M; Richter Hans-Peter; Hameister Horst
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
Acta neuropathologica 2002;104(3):231-40.
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2002: Kehrer-Sawatzki Hildegard; Schreiner Bettina; Tänzer Simone; Platzer Matthias; Müller Stefan; Hameister Horst
Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17.
American journal of human genetics 2002;71(2):375-88.
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2002: Barbi G; Rossier E; Vossbeck S; Hummler H; Lang D; Flock F; Terinde R; Wirth J; Vogel W; Kehrer-Sawatzki H
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
Journal of medical genetics 2002;39(2):E6.
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2001: Zechner U; Wilda M; Kehrer-Sawatzki H; Vogel W; Fundele R; Hameister H
A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?
Trends in genetics : TIG 2001;17(12):697-701.
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2001: Jenne D E; Tinschert S; Reimann H; Lasinger W; Thiel G; Hameister H; Kehrer-Sawatzki H
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.
American journal of human genetics 2001;69(3):516-27.
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2001: López-Correa C; Dorschner M; Brems H; Lázaro C; Clementi M; Upadhyaya M; Dooijes D; Moog U; Kehrer-Sawatzki H; Rutkowski J L; Fryns J P; Marynen P; Stephens K; Legius E
Recombination hotspot in NF1 microdeletion patients.
Human molecular genetics 2001;10(13):1387-92.
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2000: Kehrer-Sawatzki H; Moschgath E; Maier C; Legius E; Elgar G; Krone W
Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts.
Gene 2000;251(1):63-71.
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2000: Wilda M; Bächner D; Zechner U; Kehrer-Sawatzki H; Vogel W; Hameister H
Do the constraints of human speciation cause expression of the same set of genes in brain, testis, and placenta?
Cytogenetics and cell genetics 2000;91(1-4):300-2.
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1999: Kehrer-Sawatzki H; Maier C; Moschgath E; Elgar G; Krone W
Characterization of three genes, AKAP84, BAW and WSB1, located 3' to the neurofibromatosis type 1 locus in Fugu rubripes.
Gene 1999;235(1-2):1-11.
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1999: Kehrer-Sawatzki H; Röck H; Götz H; Siegel A; Krone W
Monosomy 6 in human cultured fibroblast-like cells permanently stimulated by fibroblast growth factor 1: evidence for selection.
Cytogenetics and cell genetics 1999;86(1):28-33.
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1999: Eisenbarth I; König-Greger D; Wöhr G; Kehrer-Sawatzki H; Assum G
Characterization of an alphoid subfamily located near p-arm sequences on human chromosome 22.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1999;7(1):65-9.
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1998: Kehrer-Sawatzki H; Maier C; Moschgath E; Elgar G; Krone W
Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes.
Gene 1998;222(1):145-53.
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1998: Kehrer-Sawatzki H; Wöhr G; Schempp W; Eisenbarth I; Barbi G; Assum G
Mapping of members of the low-copy-number repetitive DNA sequence family chAB4 within the p arms of human acrocentric chromosomes: characterization of Robertsonian translocations.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1998;6(6):429-35.
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1997: Kehrer-Sawatzki H; Schwickardt T; Assum G; Rocchi M; Krone W
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.
Human genetics 1997;100(5-6):595-600.
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1997: Kehrer-Sawatzki H; Udart M; Krone W; Baden R; Fahsold R; Thomas G; Schmucker B; Assum G
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2.
Human genetics 1997;100(1):67-74.
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1997: Däschner K; Assum G; Eisenbarth I; Krone W; Hoffmeyer S; Wortmann S; Heymer B; Kehrer-Sawatzki H
Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.
Biochemical and biophysical research communications 1997;234(2):346-50.
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1997: Kehrer-Sawatzki H; Häussler J; Krone W; Bode H; Jenne D E; Mehnert K U; Tümmers U; Assum G
The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.
Human genetics 1997;99(2):237-47.
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1997: Krone W; Kehrer-Sawatzki H; Siegel A; Röck H; Götz H
Monosomy 6 in human cultured fibroblast-like cells after long-term stimulation with acidic fibroblast growth factor (FGF1).
Cytogenetics and cell genetics 1997;78(2):96-102.
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