Holger Hoehn

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure (2007)

Gruhn, Bernd, Seidel, Joerg, Zintl, Felix, Varon, Raymonda, Tönnies, Holger, Neitzel, Heidemarie, ...

Abstract Background DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene ( LIG4 ). The clinical phenotype shows overlap...

The spectrum of WRN mutations in Werner syndrome patients Communicated by Mark Paalman This article is a US government work and, as such, is in the public domain in the United States of America. (2006)

Huang, Shurong, Lee, Lin, Hanson, Nancy B., Lenaerts, Catherine, Hoehn, Holger, Poot, Martin, ...

The International Registry of Werner syndrome ( www.wernersyndrome.org ) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes,...

Lack of Sensitivity of Primary Fanconi's Anemia Fibroblasts to UV and Ionizing Radiation (2004)

Reinhard Kalb, Michael Duerr, Matthias Wagner, Sabine Herterich, Michaela Gross, Martin Digweed, ...

Kalb, R., Duerr, M., Wagner, M., Herterich, S., Gross, M., Digweed, M., Joenje, H., Hoehn, H. and Schindler, D. Lack of Sensitivity of Primary Fanconi's Anemia Fibroblasts to UV and Ionizing...

Human chromosome methodology

Hoehn, Holger

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Gruhn, Bernd, Seidel, Joerg, Zintl, Felix, Varon, Raymonda, Tönnies, Holger, Neitzel, Heidemarie, ...

Linkage Disequilibrium and Haplotype Studies of Chromosome 8p 11.1-21.1 Markers and Werner Syndrome

Yu, Chang-En, Oshima, Junko, Goddard, Katrina A. B., Miki, Tetsuro, Nakura, Jun, Ogihara, Toshio, ...

Werner syndrome (WS) is an autosomal recessive disorder, characterized as a progeroid syndrome, previously mapped to the 8p 11.1-21.1 region. Because WS is so rare, and because many patients are from...

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, ...

FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a key role in DNA double-strand–type damage responses. Using complementation assays and immunoblotting, a consortium of...