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

Por Cooper, David N, Kehrer-Sawatzki, Hildegard
Publicado em 2011

Emerging genotype–phenotype relationships in patients with large NF1 deletions

Por Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix, Cooper, David N.
Publicado no Hum Genet (2017)

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

Por Kehrer-Sawatzki, Hildegard, Farschtschi, Said, Mautner, Victor-Felix, Cooper, David N.
Publicado no Hum Genet (2016)

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

Por Leybrand, Sabine, Rossier, Eva, Barbi, Gotthold, Cooper, David N., Kehrer-Sawatzki, Hildegard
Publicado em 2007

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

Por Kehrer-Sawatzki, Hildegard, Schreiner, Bettina, Tänzer, Simone, Platzer, Matthias, Müller, Stefan, Hameister, Horst
Publicado em 2002

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

Por Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
Publicado em 2013

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

Por Fechtel, Kim, Osterbur, Marika L., Kehrer-Sawatzki, Hildegard, Stenson, Peter D., Cooper, David N.
Publicado em 2011

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

Por Zhang, Guojie, Pei, Zhang, Ball, Edward V, Mort, Matthew, Kehrer-Sawatzki, Hildegard, Cooper, David N
Publicado em 2011

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

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

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

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

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

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

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

Evolutionary History and Genome Organization of DUF1220 Protein Domains

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

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

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

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

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

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

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

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

Por 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 
Publicado em 2007

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

Por 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
Publicado em 2011

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Por Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen BM, Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Högel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David N, Kehrer-Sawatzki, Hildegard
Publicado no Genome Biol (2014)