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67 results for Kehrer-Sawatzki,+Hildegard

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ArticlesPeer ReviewedFull Text
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
Author / Creator:Kehrer-Sawatzki, Hildegard ; Cooper, David N.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-02, Vol.141 (2), p.177-191
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Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons
Author / Creator:Kehrer-Sawatzki, Hildegard ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-02, Vol.28 (2), p.99-130
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Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Author / Creator:Kehrer‐Sawatzki, Hildegard ; Kordes, Uwe ; Seiffert, Simone ; Summerer, Anna ; Hagel, Christian ; Schüller, Ulrich ; Farschtschi, Said ; Schneppenheim, Reinhard ; Bendszus, Martin ; Godel, Tim ; Mautner, Victor‐Felix
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2018-07, Vol.6 (4), p.627-637
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Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
Author / Creator:Kehrer-Sawatzki, Hildegard ; Cooper, David N.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-12, Vol.140 (12), p.1635-1649
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The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-04, Vol.15 (4), p.e0232031
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Molecular mechanisms of chromosomal rearrangement during primate evolution
Author / Creator:Kehrer-Sawatzki, Hildegard ; Cooper, David N.
Publisher:Dordrecht: Springer Netherlands
Journal title:Chromosome research, 2008-03, Vol.16 (1), p.41-56
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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
Author / Creator:Kluwe, Lan ; Siebert, Reiner ; Gesk, Stefan ; Friedrich, Reinhard E. ; Tinschert, Sigrid ; Kehrer-Sawatzki, Hildegard ; Mautner, Victor-F.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-02, Vol.23 (2), p.111-116
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Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution
Author / Creator:Kemkemer, Claus ; Kohn, Matthias ; Cooper, David N ; Froenicke, Lutz ; Högel, Josef ; Hameister, Horst ; Kehrer-Sawatzki, Hildegard
Publisher:England: BioMed Central Ltd
Journal title:BMC evolutionary biology, 2009-04, Vol.9 (1), p.84-84, Article 84
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Exploring the potential relevance of human-specific genes to complex disease
Author / Creator:Cooper, David N ; Kehrer-Sawatzki, Hildegard
Publisher:England: BioMed Central
Journal title:Human genomics, 2011, Vol.5 (2), p.99-107
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Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome
Author / Creator:Goidts, Violaine ; Cooper, David N. ; Armengol, Lluis ; Schempp, Werner ; Conroy, Jeffrey ; Estivill, Xavier ; Nowak, Norma ; Hameister, Horst ; Kehrer-Sawatzki, Hildegard
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2006-09, Vol.120 (2), p.270-284
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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions
Author / Creator:Mußotter, Tanja ; Kluwe, Lan ; Högel, Josef ; Nguyen, Rosa ; Cooper, David N ; Mautner, Victor-Felix ; Kehrer-Sawatzki, Hildegard
Publisher:England: BioMed Central
Journal title:BMC genetics, 2012-10, Vol.13 (1), p.98-98
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Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
Author / Creator:Kehrer-Sawatzki, Hildegard ; Sandig, Catharina ; Chuzhanova, Nadia ; Goidts, Violaine ; Szamalek, Justyna M. ; Tänzer, Simone ; Müller, Stefan ; Platzer, Matthias ; Cooper, David N. ; Hameister, Horst
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-01, Vol.25 (1), p.45-55
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Author / Creator:Cooper, David N. ; Krawczak, Michael ; Polychronakos, Constantin ; Tyler-Smith, Chris ; Kehrer-Sawatzki, Hildegard
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2013-10, Vol.132 (10), p.1077-1130
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Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports
Author / Creator:Vogt, Julia ; Nguyen, Rosa ; Kluwe, Lan ; Schuhmann, Martin ; Roehl, Angelika C ; Mußotter, Tanja ; Cooper, David N ; Mautner, Victor-Felix ; Kehrer-Sawatzki, Hildegard
Publisher:England: BioMed Central Ltd
Journal title:Journal of medical case reports, 2011-12, Vol.5 (1), p.577-577, Article 577
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Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations
Author / Creator:Zhang, Guojie ; Pei, Zhang ; Ball, Edward V ; Mort, Matthew ; Kehrer-Sawatzki, Hildegard ; Cooper, David N
Publisher:England: BioMed Central
Journal title:Human genomics, 2011-07, Vol.5 (5), p.453-484
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PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies
Author / Creator:De Raedt, Thomas ; Beert, Eline ; Pasmant, Eric ; Luscan, Armelle ; Brems, Hilde ; Ortonne, Nicolas ; Helin, Kristian ; Hornick, Jason L. ; Mautner, Victor ; Kehrer-Sawatzki, Hildegard ; Clapp, Wade ; Bradner, James ; Vidaud, Michel ; Upadhyaya, Meena ; Legius, Eric ; Cichowski, Karen
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2014-10, Vol.514 (7521), p.247-251
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Identification of an INF1/I Microdeletion with Optical Genome Mapping
Author / Creator:Büki, Gergely ; Bekő, Anna ; Bödör, Csaba ; Urbán, Péter ; Németh, Krisztina ; Hadzsiev, Kinga ; Fekete, György ; Kehrer-Sawatzki, Hildegard ; Bene, Judit
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (17)
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Identification of an NF1 Microdeletion with Optical Genome Mapping
Author / Creator:Büki, Gergely ; Bekő, Anna ; Bödör, Csaba ; Urbán, Péter ; Németh, Krisztina ; Hadzsiev, Kinga ; Fekete, György ; Kehrer-Sawatzki, Hildegard ; Bene, Judit
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (17), p.13580
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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-02, Vol.142 (2), p.245-274
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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
Author / Creator:Summerer, Anna ; Schäfer, Eleonora ; Mautner, Victor-Felix ; Messiaen, Ludwine ; Cooper, David N. ; Kehrer-Sawatzki, Hildegard
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-01, Vol.138 (1), p.73-81
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Showing 1 to 20 of 67 results

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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

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

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Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

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

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

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Molecular mechanisms of chromosomal rearrangement during primate evolution

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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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

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Exploring the potential relevance of human-specific genes to complex disease

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

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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

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

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

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Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

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Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

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PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

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Identification of an INF1/I Microdeletion with Optical Genome Mapping

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Identification of an NF1 Microdeletion with Optical Genome Mapping

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

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

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