Works by Kehrer‐Sawatzki, Hildegard

Results: 81

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

Published in:

2016

By:

Farschtschi, Said;
Mautner, Victor‐Felix;
Pham, Mirko;
Nguyen, Rosa;
Kehrer‐Sawatzki, Hildegard;
Hutter, Sonja;
Friedrich, Reinhard E.;
Schulz, Alexander;
Morrison, Helen;
Jones, David T. W.;
Bendszus, Martin;
Bäumer, Philipp;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard;
Bäumer, Philipp

Publication type:

journal article

Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages.

Published in:

Chromosome Research, 2009, v. 17, n. 6, p. 811

By:

Matthias Kohn;
Hildegard Kehrer-Sawatzki;
Reinald Fundele

Publication type:

Article

Molecular mechanisms of chromosomal rearrangement during primate evolution.

Published in:

Chromosome Research, 2008, v. 16, n. 1, p. 41, doi. 10.1007/s10577-007-1207-1

By:

Hildegard Kehrer-Sawatzki;
David Cooper

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 572, doi. 10.1038/sj.ejhg.5202002

By:

Steinmann, Katharina;
Kluwe, Lan;
Cooper, David N.;
Brems, Hilde;
De Raedt, Thomas;
Legius, Eric;
Mautner, Viktor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 367, doi. 10.1038/sj.ejhg.5201980

By:

Kuhl, Angelika;
Melberg, Atle;
Meinl, Edgar;
Nürnberg, Gudrun;
Nürnberg, Peter;
Kehrer-Sawatzki, Hildegard;
Jenne, Dieter E

Publication type:

Article

Childhood overgrowth in patients with common NF1 microdeletions.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 7, p. 883, doi. 10.1038/sj.ejhg.5201419

By:

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

Publication type:

Article

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 29, doi. 10.1038/sj.ejhg.5201085

By:

Kohn, Matthias;
Steinbach, Peter;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1.

Published in:

PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0232031

By:

Well, Lennart;
Jaeger, Anna;
Kehrer-Sawatzki, Hildegard;
Farschtschi, Said;
Avanesov, Maxim;
Sauer, Markus;
de Sousa, Manuela Tavares;
Bannas, Peter;
Derlin, Thorsten;
Adam, Gerhard;
Mautner, Victor F.;
Salamon, Johannes M.

Publication type:

Article

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

Published in:

Nature Genetics, 2006, v. 38, n. 12, p. 1419, doi. 10.1038/ng1920

By:

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

Publication type:

Article

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.

Published in:

Genes, 2021, v. 12, n. 10, p. 1639, doi. 10.3390/genes12101639

By:

Kehrer-Sawatzki, Hildegard;
Wahlländer, Ute;
Cooper, David N.;
Mautner, Victor-Felix

Publication type:

Article

Identification of an NF1 Microdeletion with Optical Genome Mapping.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13580, doi. 10.3390/ijms241713580

By:

Büki, Gergely;
Bekő, Anna;
Bödör, Csaba;
Urbán, Péter;
Németh, Krisztina;
Hadzsiev, Kinga;
Fekete, György;
Kehrer-Sawatzki, Hildegard;
Bene, Judit

Publication type:

Article

C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3569, doi. 10.3390/ijms21103569

By:

Farschtschi, Said C.;
Mainka, Tina;
Glatzel, Markus;
Hannekum, Anna-Lena;
Hauck, Michael;
Gelderblom, Mathias;
Hagel, Christian;
Friedrich, Reinhard E.;
Schuhmann, Martin U.;
Schulz, Alexander;
Morrison, Helen;
Kehrer-Sawatzki, Hildegard;
Luhmann, Jan;
Gerloff, Christian;
Bendszus, Martin;
Bäumer, Philipp;
Mautner, Victor-Felix

Publication type:

Article

Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707_g

By:

Kehrer‐Sawatzki, Hildegard;
Bäzner, Ute;
Krämer, Johannes;
Lewerenz, Jan;
Pfeiffer, Christiane

Publication type:

Article

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707

By:

Kehrer‐Sawatzki, Hildegard;
Bäzner, Ute;
Krämer, Johannes;
Lewerenz, Jan;
Pfeiffer, Christiane

Publication type:

Article

Recombination hotspot in NF1 microdeletion patients.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1387, doi. 10.1093/hmg/10.13.1387

By:

López-Correa, Catalina;
Dorschner, Michael;
Brems, Hilde;
Lázaro, Conxi;
Clementi, Maurizio;
Upadhyaya, Meena;
Dooijes, Dennis;
Moog, Ute;
Kehrer-Sawatzki, Hildegard;
Rutkowski, J. Lynn;
Fryns, Jean-Pierre;
Marynen, Peter;
Stephens, Karen;
Legius, Eric

Publication type:

Article

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution.

Published in:

BMC Evolutionary Biology, 2009, v. 9, p. 1, doi. 10.1186/1471-2148-9-84

By:

Kemkemer, Claus;
Kohn, Matthias;
Cooper, David N.;
Froenicke, Lutz;
Högel, Josef;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 229, doi. 10.1007/s10048-012-0332-y

By:

Kehrer-Sawatzki, Hildegard;
Vogt, Julia;
Mußotter, Tanja;
Kluwe, Lan;
Cooper, David;
Mautner, Victor-Felix

Publication type:

Article

What a difference copy number variation makes.

Published in:

BioEssays, 2007, v. 29, n. 4, p. 311, doi. 10.1002/bies.20554

By:

Kehrer-Sawatzki, Hildegard

Publication type:

Article

Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas.

Published in:

Journal of Investigative Dermatology, 2009, v. 129, n. 3, p. 615, doi. 10.1038/jid.2008.274

By:

Steinmann, Katharina;
Kluwe, Lan;
Friedrich, Reinhard E;
Mautner, Victor-Felix;
Cooper, David N;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Preface.

Published in:

Cytogenetic & Genome Research, 2009, v. 123, n. 1-4, p. 5, doi. 10.1159/000184686

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

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

Published in:

Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 111, doi. 10.1002/gcc.10206

By:

Dieter E. Jenne;
Sigrid Tinschert;
Michael O. Dorschner;
Horst Hameister;
Karen Stephens;
Hildegard Kehrer-Sawatzki

Publication type:

Article

Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)-case report and review of the literature.

Published in:

Prenatal Diagnosis, 2005, v. 25, n. 10, p. 954, doi. 10.1002/pd.1252

By:

Kehrer-Sawatzki, Hildegard;
Daumiller, Eva;
Müller-Navia, Jutta;
Kendziorra, Heidemarie;
Rossier, Eva;
du Bois, Gabriele;
Barbi, Gotthold

Publication type:

Article

A gene conversion hotspot in the human growth hormone ( GH1) gene promoter.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 239, doi. 10.1002/humu.20850

By:

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.

Publication type:

Article

Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 99, doi. 10.1002/humu.20420

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee ( Pan troglodytes).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 45, doi. 10.1002/humu.20116

By:

Kehrer-Sawatzki, Hildegard;
Sandig, Catharina;
Chuzhanova, Nadia;
Goidts, Violaine;
Szamalek, Justyna M.;
Tänzer, Simone;
Müller, Stefan;
Platzer, Matthias;
Cooper, David N.;
Hameister, Horst

Publication type:

Article

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome.

Published in:

Medizinische Genetik, 2017, v. 29, n. 3, p. 296, doi. 10.1007/s11825-017-0160-4

By:

Bens, Susanne;
Kehrer-Sawatzki, Hildegard;
Hasselblatt, Martin;
Frühwald, Michael;
Siebert, Reiner

Publication type:

Article

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.

Published in:

2014

By:

Hutter, Sonja;
Piro, Rosario;
Reuss, David;
Hovestadt, Volker;
Sahm, Felix;
Farschtschi, Said;
Kehrer-Sawatzki, Hildegard;
Wolf, Stephan;
Lichter, Peter;
Deimling, Andreas;
Schuhmann, Martin;
Pfister, Stefan;
Jones, David;
Mautner, Victor

Publication type:

Letter

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).

Published in:

Acta Neuropathologica, 2002, v. 104, n. 3, p. 231, doi. 10.1007/s00401-002-0552-6

By:

Kehrer-Sawatzki, Hildegard;
Wilda, Monika;
Braun, Veit M.;
Richter, Hans-Peter;
Hameister, Horst

Publication type:

Article

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 245, doi. 10.1007/s00439-022-02500-6

By:

Fan, Cong;
Chen, Ken;
Wang, Yukai;
Ball, Edward V.;
Stenson, Peter D.;
Mort, Matthew;
Bacolla, Albino;
Kehrer-Sawatzki, Hildegard;
Tainer, John A.;
Cooper, David N.;
Zhao, Huiying

Publication type:

Article

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Published in:

Human Genetics, 2022, v. 141, n. 2, p. 177, doi. 10.1007/s00439-021-02410-z

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Published in:

Human Genetics, 2021, v. 140, n. 12, p. 1635, doi. 10.1007/s00439-021-02363-3

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Published in:

Human Genetics, 2019, v. 138, n. 1, p. 73, doi. 10.1007/s00439-018-1961-5

By:

Summerer, Anna;
Schäfer, Eleonora;
Kehrer-Sawatzki, Hildegard;
Mautner, Victor-Felix;
Messiaen, Ludwine;
Cooper, David N.

Publication type:

Article

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 543, doi. 10.1007/s00439-018-1909-9

By:

Kehrer-Sawatzki, Hildegard;
Kluwe, Lan;
Friedrich, Reinhard E.;
Summerer, Anna;
Schäfer, Eleonora;
Wahlländer, Ute;
Matthies, Cordula;
Gugel, Isabel;
Farschtschi, Said;
Hagel, Christian;
Cooper, David N.;
Mautner, Victor-Felix

Publication type:

Article

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 511, doi. 10.1007/s00439-018-1904-1

By:

Summerer, Anna;
Mautner, Victor-Felix;
Upadhyaya, Meena;
Claes, Kathleen B. M.;
Högel, Josef;
Cooper, David N.;
Messiaen, Ludwine;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Published in:

Human Genetics, 2018, v. 137, n. 5, p. 365, doi. 10.1007/s00439-018-1888-x

By:

Neuhäusler, Lisa;
Summerer, Anna;
Cooper, David N.;
Mautner, Victor-F.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Published in:

Human Genetics, 2017, v. 136, n. 4, p. 349, doi. 10.1007/s00439-017-1766-y

By:

Kehrer-Sawatzki, Hildegard;
Mautner, Victor-Felix;
Cooper, David

Publication type:

Article

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Published in:

Human Genetics, 2017, v. 136, n. 2, p. 129, doi. 10.1007/s00439-016-1753-8

By:

Kehrer-Sawatzki, Hildegard;
Farschtschi, Said;
Mautner, Victor-Felix;
Cooper, David

Publication type:

Article

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Published in:

Human Genetics, 2016, v. 135, n. 5, p. 469, doi. 10.1007/s00439-016-1646-x

By:

Hutter, Sonja;
Piro, Rosario;
Waszak, Sebastian;
Kehrer-Sawatzki, Hildegard;
Friedrich, Reinhard;
Lassaletta, Alvaro;
Witt, Olaf;
Korbel, Jan;
Lichter, Peter;
Schuhmann, Martin;
Pfister, Stefan;
Tabori, Uri;
Mautner, Victor;
Jones, David

Publication type:

Article

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.

Published in:

Human Genetics, 2014, v. 133, n. 4, p. 383, doi. 10.1007/s00439-013-1410-4

By:

Mussotter, Tanja;
Bengesser, Kathrin;
Högel, Josef;
Cooper, David;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Published in:

Human Genetics, 2013, v. 132, n. 10, p. 1077, doi. 10.1007/s00439-013-1331-2

By:

Cooper, David;
Krawczak, Michael;
Polychronakos, Constantin;
Tyler-Smith, Chris;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.

Published in:

Human Genetics, 2011, v. 130, n. 1, p. 149, doi. 10.1007/s00439-011-0984-y

By:

Fechtel, Kim;
Osterbur, Marika L.;
Kehrer-Sawatzki, Hildegard;
Stenson, Peter D.;
Cooper, David N.

Publication type:

Article

Helen V. Firth and Jane A. Hurst, with advisory editor Judith G. Hall: Oxford Desk Reference: Clinical Genetics.

Published in:

2008

By:

Kehrer-Sawatzki, Hildegard

Publication type:

Book Review

Structural divergence between the human and chimpanzee genomes.

Published in:

Human Genetics, 2007, v. 120, n. 6, p. 759, doi. 10.1007/s00439-006-0270-6

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 270, doi. 10.1007/s00439-006-0217-y

By:

Goidts, Violaine;
Cooper, David;
Armengol, Lluis;
Schempp, Werner;
Conroy, Jeffrey;
Estivill, Xavier;
Nowak, Norma;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.

Published in:

Human Genetics, 2006, v. 120, n. 1, p. 126, doi. 10.1007/s00439-006-0209-y

By:

Szamalek, Justyna;
Goidts, Violaine;
Cooper, David;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 103, doi. 10.1007/s00439-005-0117-6

By:

Szamalek, Justyna M.;
Cooper, David N.;
Schempp, Werner;
Minich, Peter;
Kohn, Matthias;
Hoegel, Josef;
Goidts, Violaine;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 185, doi. 10.1007/s00439-005-0130-9

By:

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

Publication type:

Article

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 168, doi. 10.1007/s00439-005-1287-y

By:

Szamalek, Justyna M.;
Goidts, Violaine;
Chuzhanova, Nadia;
Hameister, Horst;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

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 17q11.2.

Published in:

Human Genetics, 2005, v. 116, n. 6, p. 466, doi. 10.1007/s00439-005-1265-4

By:

Kehrer-Sawatzki, Hildegard;
Kluwe, Lan;
Fünsterer, Carsten;
Mautner, Victor-Felix

Publication type:

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 primates.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 116, doi. 10.1007/s00439-004-1120-z

By:

Goidts, Violaine;
Szamalek, Justyna M.;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article