L. Hoefsloot

发表

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation.

F. Dong, B. Löwenberg, I. Touw, 1993, Molecular and cellular biology.

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.

A. Veerman, L. Hoefsloot, F. Dong, 1994, Proceedings of the National Academy of Sciences of the United States of America.

A point mutation in the granulocyte colony-stimulating factor receptor (G-CSF-R) gene in a case of acute myeloid leukemia results in the overexpression of a novel G-CSF-R isoform.

F. Dong, B. Löwenberg, I. Touw, 1995, Blood.

Erythropoietin-induced activation of STAT5 is impaired in the myelodysplastic syndrome.

L. Hoefsloot, B. Löwenberg, I. Touw, 1997, Blood.

A point mutation in the granulocyte colony-stimulating factor receptor (G-CSF-R) gene in a case of acute myeloid leukemia results in the overexpression of a novel G-CSF-R isoform.

L. Hoefsloot, F. Dong, B. Löwenberg, 1995, Blood.

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

L. Hoefsloot, F. Dong, B. Löwenberg, 1993, Molecular and cellular biology.

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

L. Hoefsloot, S. Shanley, M. Breuning, 2011, Clinical genetics.

Erythropoiesis in myelodysplastic syndrome: expression of receptors for erythropoietin and kit ligand.

L. Hoefsloot, B. Löwenberg, B. Backx, 1996, Leukemia.

Identical fusion transcript associated with different breakpoints in the AML1 gene in simple and variant t(8;21) acute myeloid leukemia.

A. Hagemeijer, N. Sacchi, G. D. de Greef, 1995, Leukemia.

bcr rearrangement and translocation of the c-abl oncogene in Philadelphia positive acute lymphoblastic leukemia.

A. Hagemeijer, M. Greaves, C. Bartram, 1986, Blood.

The Role of the Ph Chromosome in Chronic Myelocytic Leukemia

N. Heisterkamp, J. Groffen, G. Grosveld, 1987 .

bcr rearrangement and translocation of the c-abl oncogene in Philadelphia positive acute lymphoblastic leukemia.

A. Hagemeijer, M. Greaves, C. Bartram, 1986, Blood.

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

M. Simoni, C. Krausz, F. Tüttelmann, 2013, Andrology.

overexpression of a novel G-CSF-R isoform ( G-CSF-R ) gene in a case of acute myeloid leukemia results in the A point mutation in the granulocyte colony-stimulating factor receptor

I. Touw, L. Hoefsloot, M. V. P. F Dong, 2002 .

Interleukin-7 signaling in human B cell precursor acute lymphoblastic leukemia cells and murine BAF3 cells involves activation of STAT1 and STAT5 mediated via the interleukin-7 receptor alpha chain.

B. Löwenberg, I. Touw, F. Smiers, 1996, Leukemia.

A novel variant of the bcr-abl fusion product in Philadelphia chromosome-positive acute lymphoblastic leukemia.

A. Hagemeijer, G. Grosveld, M. Moret, 1990, Leukemia.

PCR analysis of Y-chromosome deletions in subfertile men

L. Hoefsloot, E. Meuleman, J. Kremer, 1997, The Lancet.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

L. Hoefsloot, W. Crowley, T. Ogata, 2009, Clinical genetics.

The membrane-distal cytoplasmic region of human granulocyte colony-stimulating factor receptor is required for STAT3 but not STAT1 homodimer formation.

L. Hoefsloot, F. Dong, B. Löwenberg, 1996, Blood.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, L. Vissers, B. D. de Vries, 2005, Journal of Medical Genetics.

8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005

M. Gill, S. Ennis, N. Miller, 2006, Ulster medical journal.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Clinical genetics.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, D. Donnai, L. Kapusta, 2005, Journal of Medical Genetics.