Niklas Dahl

发表

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

Sarah E. Ball, Peter Gustavsson, Nancy F. Olivieri, 1998 .

Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.

Johan Richter, S. Karlsson, J. Richter, 2002, Blood.

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.

Claudio Santoro, Umberto Dianzani, A. Chiocchetti, 2005, Haematologica.

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Neha Tiwari, N. Tiwari, N. Dahl, 2010, American journal of human genetics.

Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.

Koichi Miyake, Johan Richter, Hans Matsson, 2005, Blood.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Peter Gustavsson, Hans Matsson, I. Dianzani, 1999, Nature Genetics.

Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer.

Hiroshi Nishiura, Johan Richter, H. Nishiura, 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Peter Gustavsson, C. Larsson, N. Dahl, 2005, European Journal of Human Genetics.

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Bengt Fadeel, Bodo Grimbacher, Alejandro A Schäffer, 2007, Nature Genetics.

The ribosomal basis of diamond‐blackfan anemia: mutation and database update

Mutlu Kartal, Thierry Leblanc, A. Beggs, 2010, Human mutation.

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

Adam Ameur, Lars Feuk, L. Feuk, 2013, Human mutation.