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

অনুযায়ী Cooper, David N, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2011

Emerging genotype–phenotype relationships in patients with large NF1 deletions

অনুযায়ী Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix, Cooper, David N.
প্রকাশিত Hum Genet (2017)

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

অনুযায়ী Kehrer-Sawatzki, Hildegard, Farschtschi, Said, Mautner, Victor-Felix, Cooper, David N.
প্রকাশিত Hum Genet (2016)

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

অনুযায়ী Leybrand, Sabine, Rossier, Eva, Barbi, Gotthold, Cooper, David N., Kehrer-Sawatzki, Hildegard
প্রকাশিত 2007

Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

অনুযায়ী Kehrer-Sawatzki, Hildegard, Schreiner, Bettina, Tänzer, Simone, Platzer, Matthias, Müller, Stefan, Hameister, Horst
প্রকাশিত 2002

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

অনুযায়ী Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2013

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

অনুযায়ী Fechtel, Kim, Osterbur, Marika L., Kehrer-Sawatzki, Hildegard, Stenson, Peter D., Cooper, David N.
প্রকাশিত 2011

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

অনুযায়ী Zhang, Guojie, Pei, Zhang, Ball, Edward V, Mort, Matthew, Kehrer-Sawatzki, Hildegard, Cooper, David N
প্রকাশিত 2011

Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

অনুযায়ী Jenne, Dieter E., Tinschert, Sigrid, Reimann, Heike, Lasinger, Wolfgang, Thiel, Gundula, Hameister, Horst, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2001

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

অনুযায়ী Kemkemer, Claus, Kohn, Matthias, Cooper, David N, Froenicke, Lutz, Högel, Josef, Hameister, Horst, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2009

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 Inherit...

অনুযায়ী Cooper, David N., Bacolla, Albino, Férec, Claude, Vasquez, Karen M., Kehrer-Sawatzki, Hildegard, Chen, Jian-Min
প্রকাশিত 2011

Clinical characterization of children and adolescents with NF1 microdeletions

অনুযায়ী Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Salamon, Johannes, Well, Lennart, Farschtschi, Said, Rosenbaum, Thorsten, Mautner, Victor-Felix
প্রকাশিত Childs Nerv Syst (2020)

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

অনুযায়ী Mußotter, Tanja, Kluwe, Lan, Högel, Josef, Nguyen, Rosa, Cooper, David N, Mautner, Victor-Felix, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2012

Evolutionary History and Genome Organization of DUF1220 Protein Domains

অনুযায়ী O’Bleness, Majesta S., Dickens, C. Michael, Dumas, Laura J., Kehrer-Sawatzki, Hildegard, Wyckoff, Gerald J., Sikela, James M.
প্রকাশিত 2012

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16

অনুযায়ী Goidts, Violaine, Szamalek, Justyna M., de Jong, Pieter J., Cooper, David N., Chuzhanova, Nadia, Hameister, Horst, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2005

Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event

অনুযায়ী Ganster, Christina, Wernstedt, Annekatrin, Kehrer-Sawatzki, Hildegard, Messiaen, Ludwine, Schmidt, Konrad, Rahner, Nils, Heinimann, Karl, Fonatsch, Christa, Zschocke, Johannes, Wimmer, Katharina
প্রকাশিত 2010

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

অনুযায়ী Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David N, Mautner, Victor-Felix, Kehrer-Sawatzki, Hildegard
প্রকাশিত 2011

Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

অনুযায়ী Kehrer‐Sawatzki, Hildegard, Kordes, Uwe, Seiffert, Simone, Summerer, Anna, Hagel, Christian, Schüller, Ulrich, Farschtschi, Said, Schneppenheim, Reinhard, Bendszus, Martin, Godel, Tim, Mautner, Victor‐Felix
প্রকাশিত Mol Genet Genomic Med (2018)

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

অনুযায়ী 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 
প্রকাশিত 2007

Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH

অনুযায়ী Garcia-Linares, Carles, Fernández-Rodríguez, Juana, Terribas, Ernest, Mercadé, Jaume, Pros, Eva, Benito, Llúcia, Benavente, Yolanda, Capellà, Gabriel, Ravella, Anna, Blanco, Ignacio, Kehrer-Sawatzki, Hildegard, Lázaro, Conxi, Serra, Eduard
প্রকাশিত 2011