Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Emerging genotype–phenotype relationships in patients with large NF1 deletions

(2017) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

(2017) Christel Depienne et al.   HUMAN GENETICS

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

(2017) Eri Imagawa et al.   HUMAN MUTATION

Combined inhibition of β-catenin and Bcr–Abl synergistically targets tyrosine kinase inhibitor-resistant blast crisis chronic myeloid leukemia blasts and progenitors in vitro and in vivo

(2017) H Zhou et al.   LEUKEMIA

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

(2017) Xia Wang et al.   NATURE GENETICS

Growth in neurofibromatosis 1 microdeletion patients

(2015) X. Ning et al.   CLINICAL GENETICS

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

(2015) Elisa Giorgio et al.   HUMAN MOLECULAR GENETICS

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

(2015) Kitiwan Rojnueangnit et al.   HUMAN MUTATION

Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland

(2015) Elina Uusitalo et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involvingSOX10

(2014) Brezo Jelena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

(2014) M. Ruggieri et al.   CLINICAL GENETICS

ADAP2in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome

(2014) Marco Venturin et al.   JOURNAL OF MEDICAL GENETICS

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

(2014) Thomas De Raedt et al.   NATURE

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

(2014) Julia Vogt et al.   GENOME BIOLOGY

Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with LargeNF1Deletions Mediated by Nonallelic Homologous Recombination

(2013) Kathrin Bengesser et al.   HUMAN MUTATION

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

(2013) Audrey Sabbagh et al.   HUMAN MUTATION

Where no synapses go: gatekeepers of circuit remodeling and synaptic strength

(2013) Yevgeniya A. Mironova et al.   TRENDS IN NEUROSCIENCES

Decoupling Epigenetic and Genetic Effects through Systematic Analysis of Gene Position

(2013) Menzies Chen et al.   Cell Reports

Identification of recurrent type-2NF1microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

(2012) Julia Vogt et al.   HUMAN MUTATION

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Centaurin-α2 Interacts with β-Tubulin and Stabilizes Microtubules

(2012) Paola Zuccotti et al.   PLoS One

Molecular architecture of human polycomb repressive complex 2

(2012) Claudio Ciferri et al.   eLife

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

Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells

(2009) Isabelle Martin et al.   BRAIN RESEARCH

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

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

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

(2008) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS