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Hildegard Kehrer-Sawatzki

Research Profile

Disorders

Genes & Molecular Sequences

Procedures

Anatomy

Chromosomes, Human, Pair 17

Living Beings

Pan troglodytes

Chemicals & Drugs

Phenomena

Evolution, Molecular

Physiology

Concepts & Ideas

Devices

Bacterial Artificial Chromosomes

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Publications

TOP 3
Julia Vogt; Kathrin Bengesser; Nadia Chuzhanova; Kathleen Claes; David N Cooper; Chuanhua Fu; Josef Högel; Victor-Felix Mautner; Ludwine MESSIAEN; Tanja Mussotter; Jenneke van den Ende; Hildegard Kehrer-Sawatzki
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Majesta S O'Bleness; C Michael Dickens; Laura J Dumas; Hildegard Kehrer-Sawatzki; Gerald J Wyckoff; James M Sikela
Evolutionary history and genome organization of DUF1220 protein domains.
Hildegard Kehrer-Sawatzki; Lan Kluwe; Tanja Mußotter; Julia Vogt; David N Cooper; Victor-Felix Mautner
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

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All Publications

2012: Julia Vogt; Kathrin Bengesser; Nadia Chuzhanova; Kathleen Claes; David N Cooper; Chuanhua Fu; Josef Högel; Victor-Felix Mautner; Ludwine MESSIAEN; Tanja Mussotter; Jenneke van den Ende; Hildegard Kehrer-Sawatzki
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Human mutation 2012;33(11):1599-609.
2012: Majesta S O'Bleness; C Michael Dickens; Laura J Dumas; Hildegard Kehrer-Sawatzki; Gerald J Wyckoff; James M Sikela
Evolutionary history and genome organization of DUF1220 protein domains.
G3 (Bethesda, Md.) 2012;2(9):977-86.
2012: Hildegard Kehrer-Sawatzki; Lan Kluwe; Tanja Mußotter; Julia Vogt; David N Cooper; Victor-Felix Mautner
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
Neurogenetics 2012;13(3):229-36.
2012: Lan Kluwe; Tanja Mussotter; Rosa Nguyen; Julia Vogt; Kathrin Bengesser; Reinhard E Friedrich; Kimberly Jett; Hildegard Kehrer-Sawatzki; Victor-Felix Mautner
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
Genes, chromosomes & cancer 2012;51(5):447-51.
2012: Angelika C Roehl; Julia Vogt; Katharina Wimmer; Marion Zetzmann; David N Cooper; Josef Högel; Lan Kluwe; Victor-Felix Mautner; Tanja Mussotter; Hildegard Kehrer-Sawatzki
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.
Human mutation 2012;33(3):541-50.
2012: Tanja Mußotter; Rosa Nguyen; David N Cooper; Josef Högel; Lan Kluwe; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
BMC medical genetics 2012;13():98.
2011: David N Cooper; Claude Férec; Hildegard Kehrer-Sawatzki; Karen M Vasquez; Albino Bacolla; Jian-Min Chen
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
Human mutation 2011;32(10):1075-99.
2011: Kim Fechtel; Hildegard Kehrer-Sawatzki; Marika L Osterbur; Peter D Stenson; David N Cooper
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.
Human genetics 2011;130(1):149-66.
2011: Julia Vogt; Jürgen Kohlhase; Susanne Morlot; Lan Kluwe; Victor-Felix Mautner; David N Cooper; Hildegard Kehrer-Sawatzki
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
Human mutation 2011;32(6):E2134-47.
2011: Dobril Ivanov; Stephen E Hamby; Peter D Stenson; Andrew D Phillips; Hildegard Kehrer-Sawatzki; David N Cooper; Nadia Chuzhanova
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
Human mutation 2011;32(6):620-32.
2011: Ludwine MESSIAEN; Julia Vogt; Kathrin Bengesser; Chuanhua Fu; Fady Mikhail; Eduard Serra; Carles Garcia-Linares; David N Cooper; Conxi Lazaro; Hildegard Kehrer-Sawatzki
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
Human mutation 2011;32(2):213-9.
2011: Julia Vogt; David N Cooper; Lan Kluwe; Victor-Felix Mautner; Tanja Mußotter; Rosa Nguyen; Angelika C Roehl; Martin Schuhmann; Hildegard Kehrer-Sawatzki
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.
Journal of medical case reports 2011;5():577.
2011: David N Cooper; Hildegard Kehrer-Sawatzki
Exploring the potential relevance of human-specific genes to complex disease.
Human genomics 2011;5(2):99-107.
2011: Carles Garcia-Linares; Juana Fernández-Rodríguez; Ernest Terribas; Jaume Mercadé; Eva Pros; Llúcia Benito; Yolanda Benavente; Gabriel Capellà; Anna Ravella; Ignacio Blanco; Hildegard Kehrer-Sawatzki; Conxi Lázaro; Eduard Serra
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.
Human mutation 2011;32(1):78-90.
2010: Guojie Zhang; Zhang Pei; Michael Krawczak; Edward V Ball; Matthew Mort; Hildegard Kehrer-Sawatzki; David N Cooper
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Human mutation 2010;31(12):1286-93.
2010: Angelika C Roehl; Julia Vogt; Tanja Mussotter; Antje N Zickler; Helene Spöti; Josef Högel; Nadia Chuzhanova; Katharina Wimmer; Lan Kluwe; Victor-Felix Mautner; David N Cooper; Hildegard Kehrer-Sawatzki
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
Human mutation 2010;31(10):1163-73.
2010: Victor-Felix Mautner; Lan Kluwe; R E Friedrich; A C Roehl; S Bammert; Josef Högel; H Spöri; David N Cooper; Hildegard Kehrer-Sawatzki
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Journal of medical genetics 2010;47(9):623-30.
2010: Jian-Min Chen; David N Cooper; Claude Férec; Hildegard Kehrer-Sawatzki; George P Patrinos
Genomic rearrangements in inherited disease and cancer.
Seminars in cancer biology 2010;20(4):222-33.
2010: David N Cooper; Jian-Min Chen; Edward V Ball; Katy Howells; Matthew Mort; Andrew D Phillips; Nadia Chuzhanova; Michael Krawczak; Hildegard Kehrer-Sawatzki; Peter D Stenson
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Human mutation 2010;31(6):631-55.
2010: Kathrin Bengesser; David N Cooper; Katharina Steinmann; Lan Kluwe; Nadia Chuzhanova; Katharina Wimmer; Marcos Tatagiba; Sigrid Tinschert; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Human mutation 2010;31(6):742-51.
2010: Christina Ganster; Annekatrin Wernstedt; Hildegard Kehrer-Sawatzki; Ludwine MESSIAEN; Konrad Schmidt; Nils Rahner; Karl Heinimann; Christa Fonatsch; Johannes Zschocke; Katharina Wimmer
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.
Human mutation 2010;31(5):552-60.
2010: Angelika C Roehl; David N Cooper; Lan Kluwe; Andreas Helbrich; Katharina Wimmer; Josef Högel; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
Human mutation 2010;31(3):325-34.
2009: Angélique Chauvin; Jian-Min Chen; Sylvia Quemener; Emmanuelle Masson; Hildegard Kehrer-Sawatzki; Barbara Ohmle; David N Cooper; Cédric Le Maréchal; Claude Férec
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
Human molecular genetics 2009;18(19):3605-14.
2009: Katharina Steinmann; Lan Kluwe; Reinhard E Friedrich; Victor-Felix Mautner; David N Cooper; Hildegard Kehrer-Sawatzki
Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
The Journal of investigative dermatology 2009;129(3):615-21.
2009: Andreas Wolf; David S Millar; Amke Caliebe; Martin Horan; Vicky Newsway; Dorothea Kumpf; Katharina Steinmann; Ik-Seung Chee; Young-Ho Lee; Apiwat Mutirangura; Guglielmina Pepe; Olga Rickards; Jörg Schmidtke; Werner Schempp; Nadia Chuzhanova; Hildegard Kehrer-Sawatzki; Michael Krawczak; David N Cooper
A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Human mutation 2009;30(2):239-47.
2009: Claus Kemkemer; Matthias Kohn; Hildegard Kehrer-Sawatzki; Reinald Fundele; Horst Hameister
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.
2009: Jessica Kolb; Nadia Chuzhanova; Josef Högel; Karen M Vasquez; David N Cooper; Albino Bacolla; Hildegard Kehrer-Sawatzki
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.
2009: Claus Kemkemer; Matthias Kohn; David N Cooper; Lutz Froenicke; Josef Högel; Horst Hameister; Hildegard Kehrer-Sawatzki
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution.
BMC evolutionary biology 2009;9():84.
2008: Hildegard Kehrer-Sawatzki; David N Cooper
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.
2008: Katharina Steinmann; Lan Kluwe; David N Cooper; Hilde Brems; Thomas De Raedt; Eric Legius; Viktor-Felix Mautner; Hildegard Kehrer-Sawatzki
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.
2008: Hildegard Kehrer-Sawatzki; Eva Schmid; Carsten Fünsterer; Lan Kluwe; Victor-Felix Mautner
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.
2008: Angelika Kuhl; Atle Melberg; Edgar Meinl; Gudrun Nürnberg; Peter Nürnberg; Hildegard Kehrer-Sawatzki; Dieter E Jenne
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.
2008: Hildegard Kehrer-Sawatzki; David N Cooper
Comparative analysis of copy number variation in primate genomes.
Cytogenetic and genome research 2008;123(1-4):288-96.
2008: Hildegard Kehrer-Sawatzki; David N Cooper
Copy number variation and disease. Preface.
Cytogenetic and genome research 2008;123(1-4):5-6.
2008: Hildegard Kehrer-Sawatzki; David N Cooper
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.
2007: Katharina Steinmann; David N Cooper; Lan Kluwe; Nadia Chuzhanova; Cornelia Senger; Eduard Serra; Conxi Lazaro; Montserrat Gilaberte; Katharina Wimmer; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
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.
2007: Hildegard Kehrer-Sawatzki
What a difference copy number variation makes.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(4):311-3.
2007: Hildegard Kehrer-Sawatzki; David N Cooper
Structural divergence between the human and chimpanzee genomes.
Human genetics 2007;120(6):759-78.
2007: Hildegard Kehrer-Sawatzki; David N Cooper
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.
Human mutation 2007;28(2):99-130.
2007: Sabine Leybrand; Eva Rossier; Gotthold Barbi; David N Cooper; Hildegard Kehrer-Sawatzki
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.
2007: Matthias Kohn; Hildegard Kehrer-Sawatzki; Peter Steinbach; Jennifer A Marshall Graves; Horst Hameister
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.
2007: Justyna M Szamalek; David N Cooper; Josef Hoegel; Horst Hameister; Hildegard Kehrer-Sawatzki
Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions.
Cytogenetic and genome research 2007;116(1-2):53-60.
2006: Thomas De Raedt; Matthew Stephens; Ine Heyns; Hilde Brems; Daisy Thijs; Ludwine MESSIAEN; Karen Stephens; Conxi Lazaro; Katharina Wimmer; Hildegard Kehrer-Sawatzki; Dominique Vidaud; Lan Kluwe; Peter Marynen; Eric Legius
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Nature genetics 2006;38(12):1419-23.
2006: Violaine Goidts; David N Cooper; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Xavier Estivill; Norma Nowak; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2006: Justyna M Szamalek; Violaine Goidts; David N Cooper; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2006: Matthias Kohn; Josef Högel; Walther Vogel; Peter Minich; Hildegard Kehrer-Sawatzki; Jennifer A Marshall Graves; Horst Hameister
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.
Trends in genetics : TIG 2006;22(4):203-10.
2006: Sylwia Chocholska; Eva Rossier; Gotthold Barbi; Hildegard Kehrer-Sawatzki
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.
2006: Violaine Goidts; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Norma Nowak; Stefan Müller; David N Cooper; Xavier Estivill; Wolfgang Enard; Justyna M Szamalek; Horst Hameister; Hildegard Kehrer-Sawatzki
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.
Human genetics 2006;119(1-2):185-98.
2006: Justyna M Szamalek; David N Cooper; Werner Schempp; Peter Minich; Matthias Kohn; Josef Hoegel; Violaine Goidts; Horst Hameister; Hildegard Kehrer-Sawatzki
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.
Human genetics 2006;119(1-2):103-12.
2006: Katharina Wimmer; S Yao; K Claes; Hildegard Kehrer-Sawatzki; Sigrid Tinschert; Thomas De Raedt; Eric Legius; Tom Callens; Harald Beiglböck; Ophélia Maertens; Ludwine MESSIAEN
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.
2006: Claus Kemkemer; Matthias Kohn; Hildegard Kehrer-Sawatzki; Peter Minich; Josef Högel; Lutz Froenicke; Horst Hameister
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.
2006: Justyna M Szamalek; Violaine Goidts; Jeremy B Searle; David N Cooper; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2005: Katharina Wimmer; Mathias Decker; Ertan Mayatepek; Harald Beiglböck; Thomas Eggermann; Hildegard Kehrer-Sawatzki; Christa Fonatsch; Thorsten Rosenbaum
Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.
Pediatric research 2005;58(6):1265-8.
2005: Hildegard Kehrer-Sawatzki; Eva Daumiller; Jutta Müller-Navia; Heidemarie Kendziorra; Eva Rossier; Gabriele du Bois; Gotthold Barbi
Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
Prenatal diagnosis 2005;25(10):954-9.
2005: Violaine Goidts; Justyna M Szamalek; Pieter J de Jong; David N Cooper; Nadia Chuzhanova; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2005: Justyna M Szamalek; Violaine Goidts; Nadia Chuzhanova; Horst Hameister; David N Cooper; Hildegard Kehrer-Sawatzki
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.
Human genetics 2005;117(2-3):168-76.
2005: Miriam Spiegel; Konrad Oexle; Denise Horn; Elke Windt; Annegret Buske; Beate Albrecht; Eva-Christina Prott; Eva Seemanová; Joerg Seidel; Thorsten Rosenbaum; Dieter E Jenne; Hildegard Kehrer-Sawatzki; Sigrid Tinschert
Childhood overgrowth in patients with common NF1 microdeletions.
European journal of human genetics : EJHG 2005;13(7):883-8.
2005: Hildegard Kehrer-Sawatzki; Justyna M Szamalek; Simone Tänzer; Matthias Platzer; Horst Hameister
Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.
Genomics 2005;85(5):542-50.
2005: Hildegard Kehrer-Sawatzki; Lan Kluwe; Carsten Fünsterer; Victor-Felix Mautner
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.
2005: Gotthold Barbi; Christiane Spaich; Sabine Adolph; Eva Rossier; Hildegard Kehrer-Sawatzki
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.
2005: Matthias Kohn; Hildegard Kehrer-Sawatzki; Horst Hameister
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.
2005: Hildegard Kehrer-Sawatzki; Catharina Sandig; Nadia Chuzhanova; Violaine Goidts; Justyna M Szamalek; Simone Tänzer; Stefan Müller; Matthias Platzer; David N Cooper; Horst Hameister
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.
2005: Hildegard Kehrer-Sawatzki; Catharina Sandig; Violaine Goidts; Horst Hameister
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.
2004: Matthias Kohn; Hildegard Kehrer-Sawatzki; Walther Vogel; Jennifer A Marshall Graves; Horst Hameister
Wide genome comparisons reveal the origins of the human X chromosome.
Trends in genetics : TIG 2004;20(12):598-603.
2004: Hildegard Kehrer-Sawatzki; Lan Kluwe; Catharina Sandig; Matthias Kohn; Katharina Wimmer; U Krammer; A Peyrl; Dieter E Jenne; I Hansmann; Victor-Felix Mautner
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.
2004: Violaine Goidts; Justyna M Szamalek; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2004: Birgitta Gläser; K Shirneshan; K Bink; Jutta Wirth; Hildegard Kehrer-Sawatzki; U Bartz; Barbara Zoll; Stefan K Bohlander
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.
2004: Lan Kluwe; Reiner Siebert; Stefan Gesk; Reinhard E Friedrich; Sigrid Tinschert; Hildegard Kehrer-Sawatzki; Victor-Felix Mautner
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.
Human mutation 2004;23(2):111-6.
2004: Matthias Kohn; Peter Steinbach; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2003: Hildegard Kehrer-Sawatzki; Sigrid Tinschert; Dieter E Jenne
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.
2003: Erwin Petek; Dieter E Jenne; J Smolle; B Binder; W Lasinger; Christian Windpassinger; K Wagner; Peter M Kroisel; Hildegard Kehrer-Sawatzki
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.
2003: Hildegard Kehrer-Sawatzki; Ludwine MESSIAEN
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.
2003: Dieter E Jenne; Sigrid Tinschert; Michael O Dorschner; Horst Hameister; Karen Stephens; Hildegard Kehrer-Sawatzki
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.
2003: Matthias Kohn; Horst Hameister; Marion Vogel; Hildegard Kehrer-Sawatzki
Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis.
Gene expression patterns : GEP 2003;3(2):173-7.
2003: Gotthold Barbi; Christiane Spaich; Sabine Adolph; Hildegard Kehrer-Sawatzki
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.
2003: Birgitta Gläser; Eva Rossier; Gotthold Barbi; Loredana Delle Chiaie; Christian Blank; Walther Vogel; Hildegard Kehrer-Sawatzki
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.
2002: Hildegard Kehrer-Sawatzki; Günter Assum; Horst Hameister
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.
2002: Hildegard Kehrer-Sawatzki; Monika Wilda; Veit M Braun; Hans-Peter Richter; Horst Hameister
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
Acta neuropathologica 2002;104(3):231-40.
2002: Hildegard Kehrer-Sawatzki; Bettina Schreiner; Simone Tänzer; Matthias Platzer; Stefan Müller; Horst Hameister
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.
2002: Gotthold Barbi; Eva Rossier; S Vossbeck; Helmut D Hummler; D Lang; Felix Flock; R Terinde; Jutta Wirth; Walther Vogel; Hildegard Kehrer-Sawatzki
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.
2001: Ulrich Zechner; Monika Wilda; Hildegard Kehrer-Sawatzki; Walther Vogel; Reinald Fundele; Horst Hameister
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.
2001: Dieter E Jenne; Sigrid Tinschert; Heike Reimann; W Lasinger; G Thiel; Horst Hameister; Hildegard Kehrer-Sawatzki
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.
2001: C López-Correa; Michael O Dorschner; Hilde Brems; C Lázaro; M Clementi; Meena Upadhyaya; D Dooijes; U Moog; Hildegard Kehrer-Sawatzki; JL Rutkowski; Jean-Pierre Fryns; Peter Marynen; K Stephens; Eric Legius
Recombination hotspot in NF1 microdeletion patients.
Human molecular genetics 2001;10(13):1387-92.
2000: Hildegard Kehrer-Sawatzki; E Moschgath; C Maier; E Legius; greg elgar; Winfrid Krone
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.
2000: Monika Wilda; D Bächner; Ulrich Zechner; Hildegard Kehrer-Sawatzki; Walther Vogel; Horst Hameister
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.
1999: Hildegard Kehrer-Sawatzki; C Maier; E Moschgath; greg elgar; Winfrid Krone
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.
1999: Hildegard Kehrer-Sawatzki; H Röck; H Götz; A Siegel; Winfrid Krone
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.
1999: Ingrid Eisenbarth; D König-Greger; Gudrun Wöhr; Hildegard Kehrer-Sawatzki; Günter Assum
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.
1998: Hildegard Kehrer-Sawatzki; C Maier; E Moschgath; greg elgar; Winfrid Krone
Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes.
Gene 1998;222(1):145-53.
1998: Hildegard Kehrer-Sawatzki; Gudrun Wöhr; Werner Schempp; Ingrid Eisenbarth; Gotthold Barbi; Günter Assum
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.
1997: Hildegard Kehrer-Sawatzki; T Schwickardt; Günter Assum; M Rocchi; Winfrid Krone
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.
Human genetics 1997;100(5-6):595-600.
1997: Hildegard Kehrer-Sawatzki; M Udart; Winfrid Krone; R Baden; R Fahsold; G Thomas; B Schmucker; Günter Assum
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.
1997: Klaus Däschner; Günter Assum; Ingrid Eisenbarth; Winfrid Krone; Sven Hoffmeyer; S Wortmann; B Heymer; Hildegard Kehrer-Sawatzki
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.
1997: Hildegard Kehrer-Sawatzki; Jürgen Häussler; Winfrid Krone; H Bode; Dieter E Jenne; K U Mehnert; U Tümmers; Günter Assum
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.
1997: Winfrid Krone; Hildegard Kehrer-Sawatzki; A Siegel; H Röck; H Götz
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.