Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia

(2011) Mignon L. Loh   BRITISH JOURNAL OF HAEMATOLOGY

XCI in preimplantation mouse and human embryos: first there is remodelling…

(2011) I. M. van den Berg et al.   HUMAN GENETICS

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

(2011) Antje M. Zickler et al.   HUMAN MUTATION

Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development

(2011) Ikuhiro Okamoto et al.   NATURE

NF1 Inactivation in Adult Acute Myelogenous Leukemia

(2010) B. Parkin et al.   CLINICAL CANCER RESEARCH

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

(2010) Angelika C. Roehl et al.   HUMAN MUTATION

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

(2010) Kathrin Bengesser et al.   HUMAN MUTATION

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

(2010) Eric Pasmant et al.   HUMAN MUTATION

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

(2010) V.-F. Mautner et al.   JOURNAL OF MEDICAL GENETICS

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos

(2009) Ilse M. van den Berg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

(2009) D. Steinemann et al.   HAEMATOLOGICA

Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH

(2009) Eric Pasmant et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

(2008) Hildegard Kehrer-Sawatzki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis

(2008) B. V. Balgobind et al.   BLOOD

Hematopoiesis is not clonal in healthy elderly women

(2008) S. I. Swierczek et al.   BLOOD

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

(2008) Katharina Steinmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

(2007) Véronique Bolduc et al.   JOURNAL OF CLINICAL INVESTIGATION