Related references
Note: Only part of the references are listed.Immunohistochemistry for trimethylated H3K27 in the diagnosis of malignant peripheral nerve sheath tumours
Naofumi Asano et al.
HISTOPATHOLOGY (2017)
ArfGAP Domain-Containing Protein 2 (ADAP2) Integrates Upstream and Downstream Modules of RIG-I Signaling and Facilitates Type I Interferon Production
Pradeep Bist et al.
MOLECULAR AND CELLULAR BIOLOGY (2017)
Growth in neurofibromatosis 1 microdeletion patients
X. Ning et al.
CLINICAL GENETICS (2016)
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions
Morten Hillmer et al.
HUMAN MOLECULAR GENETICS (2016)
Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics
Inga-Marie Schaefer et al.
MODERN PATHOLOGY (2016)
Methylation-based classification of benign and malignant peripheral nerve sheath tumors
Manuel Roehrich et al.
ACTA NEUROPATHOLOGICA (2016)
Loss of H3K27me3 Expression Is a Highly Sensitive Marker for Sporadic and Radiation-induced MPNST
Carlos N. Prieto-Granada et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2016)
Rare ATAD5 missense variants in breast and ovarian cancer patients
Ivana Maleva Kostovska et al.
CANCER LETTERS (2016)
Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1
Elina Uusitalo et al.
JOURNAL OF CLINICAL ONCOLOGY (2016)
Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival
Arjen H. G. Cleven et al.
MODERN PATHOLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Arm Selection Preference of MicroRNA-193a Varies in Breast Cancer
Kuo-Wang Tsai et al.
SCIENTIFIC REPORTS (2016)
RNF135, RING finger protein, promotes the proliferation of human glioblastoma cells in vivo and in vitro via the ERK pathway
Yongjian Liu et al.
SCIENTIFIC REPORTS (2016)
Role of the Polycomb Repressive Complex 2 (PRC2) in Transcriptional Regulation and Cancer
Anne Laugesen et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2016)
The E3 ubiquitin ligase RNF135 regulates the tumorigenesis activity of tongue cancer SCC25 cells
Jian Jin et al.
CANCER MEDICINE (2016)
Age-specific risk of breast cancer in women with neurofibromatosis type 1
O. O. Seminog et al.
BRITISH JOURNAL OF CANCER (2015)
MicroRNA-365 inhibits growth, invasion and metastasis of malignant melanoma by targeting NRP1 expression
Juanjuan Bai et al.
CANCER BIOMARKERS (2015)
Expression and clinicopathological significance of miR-193a-3p and its potential target astrocyte elevated gene-1 in non-small lung cancer tissues
Fanghui Ren et al.
CANCER CELL INTERNATIONAL (2015)
The PRMT5 arginine methyltransferase: many roles in development, cancer and beyond
Nicole Stopa et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2015)
PRC2 mediated H3K27 methylations in cellular identity and cancer
Eric Conway et al.
CURRENT OPINION IN CELL BIOLOGY (2015)
Viral RNA detection by RIG-I-like receptors
Mitsutoshi Yoneyama et al.
CURRENT OPINION IN IMMUNOLOGY (2015)
Neurofibromatosis-related tumors: emerging biology and therapies
Matthias A. Karajannis et al.
CURRENT OPINION IN PEDIATRICS (2015)
Long non-coding RNA HOTAIR modulates c-KIT expression through sponging miR-193a in acute myeloid leukemia
Chong-yun Xing et al.
FEBS LETTERS (2015)
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Kitiwan Rojnueangnit et al.
HUMAN MUTATION (2015)
microRNA-365-targeted nuclear factor I/B transcriptionally represses cyclin-dependent kinase 6 and 4 to inhibit the progression of cutaneous squamous cell carcinoma
Liang Zhou et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2015)
Cytoskeletal dynamics: A view from the membrane
Magdalena Bezanilla et al.
JOURNAL OF CELL BIOLOGY (2015)
Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland
Elina Uusitalo et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2015)
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1
Carlos E. Prada et al.
JOURNAL OF PEDIATRICS (2015)
Elg1, a central player in genome stability
Inbal Gazy et al.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2015)
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
Julie Tastet et al.
PSYCHIATRIC GENETICS (2015)
Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors
J. Salamon et al.
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN (2015)
miR-193a-3p is a potential tumor suppressor in malignant pleural mesothelioma
Marissa Williams et al.
ONCOTARGET (2015)
The miR-193a-3p-regulated ING5 gene activates the DNA damage response pathway and inhibits multi-chemoresistance in bladder cancer
Yang Li et al.
ONCOTARGET (2015)
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
Jia Zhang et al.
SCIENTIFIC REPORTS (2015)
Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos
Amanda D. Yzaguirre et al.
ELIFE (2015)
Insights into the physiological role of CNS regeneration inhibitors
Katherine T. Baldwin et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2015)
RIG-I knockdown impedes neurogenesis in a murine model of Japanese encephalitis
Sriparna Mukherjee et al.
CELL BIOLOGY INTERNATIONAL (2015)
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features
M. Ruggieri et al.
CLINICAL GENETICS (2015)
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Valentina Pinna et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
miR-193a-3p Functions as a Tumor Suppressor in Lung Cancer by Down-regulating ERBB4
Hongwei Liang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
MicroRNA-193a-3p and -5p suppress the metastasis of human non-small-cell lung cancer by downregulating the ERBB4/PIK3R3/mTOR/S6K2 signaling pathway
T. Yu et al.
ONCOGENE (2015)
Myelin-associated inhibitors in axonal growth after CNS injury
Cedric G. Geoffroy et al.
CURRENT OPINION IN NEUROBIOLOGY (2014)
Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination
Kathrin Bengesser et al.
HUMAN MUTATION (2014)
Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions
Hildegard Kehrer-Sawatzki et al.
HUMAN MUTATION (2014)
A New Overgrowth Syndrome is due to Mutations in RNF125
Jair Tenorio et al.
HUMAN MUTATION (2014)
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome
Marco Venturin et al.
JOURNAL OF MEDICAL GENETICS (2014)
Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1
Rosa Nguyen et al.
JOURNAL OF NEURO-ONCOLOGY (2014)
Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1
Bonita P. Klein-Tasman et al.
JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY (2014)
miR-193a-3p regulates the multi-drug resistance of bladder cancer by targeting the LOXL4 gene and the Oxidative Stress pathway
Hui Deng et al.
MOLECULAR CANCER (2014)
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies
Thomas De Raedt et al.
NATURE (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al.
NATURE GENETICS (2014)
Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors
Ming Zhang et al.
NATURE GENETICS (2014)
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors
William Lee et al.
NATURE GENETICS (2014)
Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms
Anand K. Srivastava et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2014)
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames
Karin S. G. Cunha et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
The DNA methylation-regulated miR-193a-3p dictates the multi-chemoresistance of bladder cancer via repression of SRSF2/PLAU/HIC2 expression
L. Lv et al.
CELL DEATH & DISEASE (2014)
Structural plasticity: mechanisms and contribution to developmental psychiatric disorders
Yann Bernardinelli et al.
FRONTIERS IN NEUROANATOMY (2014)
Nogo-A-deficient transgenic rats show deficits in higher cognitive functions, decreased anxiety, and altered circadian activity patterns
Tomas Petrasek et al.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE (2014)
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Julia Vogt et al.
GENOME BIOLOGY (2014)
Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1
Ana Lisa Taylor Tavares et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study
O. O. Seminog et al.
BRITISH JOURNAL OF CANCER (2013)
MicroRNA-365 regulates NKX2-1, a key mediator of lung cancer
Sung-Min Kang et al.
CANCER LETTERS (2013)
The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology
Ogan D. Abaan et al.
CANCER RESEARCH (2013)
Is PCNA unloading the central function of the Elg1/ATAD5 replication factor C-like complex?
Takashi Kubota et al.
CELL CYCLE (2013)
Demethylation of miR-9-3 and miR-193a Genes Suppresses Proliferation and Promotes Apoptosis in Non-Small Cell Lung Cancer Cell Lines
Jinliang Wang et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2013)
Cardiac characterization of 16 patients with large NF1 gene deletions
R. Nguyen et al.
CLINICAL GENETICS (2013)
Gain-of-function microRNA screens identify miR-193a regulating proliferation and apoptosis in epithelial ovarian cancer cells
Haruo Nakano et al.
INTERNATIONAL JOURNAL OF ONCOLOGY (2013)
ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin
Kyoo-young Lee et al.
JOURNAL OF CELL BIOLOGY (2013)
Height Assessments in Children With Neurofibromatosis Type 1
Elizabeth A. Soucy et al.
JOURNAL OF CHILD NEUROLOGY (2013)
The Association Between Hypotonia and Brain Tumors in Children With Neurofibromatosis Type 1
Lauren E. Wessel et al.
JOURNAL OF CHILD NEUROLOGY (2013)
Effects of miR-193a and sorafenib on hepatocellular carcinoma cells
Alessandro Salvi et al.
MOLECULAR CANCER (2013)
Transcriptional regulation by Polycomb group proteins
Luciano Di Croce et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Nogo and Nogo receptor: Relevance to schizophrenia?
Roman Willi et al.
NEUROBIOLOGY OF DISEASE (2013)
A novel miR-193a-5p-YY1-APC regulatory axis in human endometrioid endometrial adenocarcinoma
Y. Yang et al.
ONCOGENE (2013)
Synthetic microRNA-mediated downregulation of Nogo-A in transgenic rats reveals its role as regulator of synaptic plasticity and cognitive function
Bjoern Tews et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Where no synapses go: gatekeepers of circuit remodeling and synaptic strength
Yevgeniya A. Mironova et al.
TRENDS IN NEUROSCIENCES (2013)
Modeling cognitive dysfunction in neurofibromatosis-1
Kelly A. Diggs-Andrews et al.
TRENDS IN NEUROSCIENCES (2013)
Akt-p53-miR-365-cyclin D1/cdc25A axis contributes to gastric tumorigenesis induced by PTEN deficiency
Shui-Long Guo et al.
NATURE COMMUNICATIONS (2013)
A Distinct Role of Riplet-Mediated K63-Linked Polyubiquitination of the RIG-I Repressor Domain in Human Antiviral Innate Immune Responses
Hiroyuki Oshiumi et al.
PLOS PATHOGENS (2013)
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities
Ines R. Violante et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2013)
microRNA-365, down-regulated in colon cancer, inhibits cell cycle progression and promotes apoptosis of colon cancer cells by probably targeting Cyclin D1 and Bcl-2
Jing Nie et al.
CARCINOGENESIS (2012)
MiR-365 regulates lung cancer and developmental gene thyroid transcription factor 1
Ji Qi et al.
CELL CYCLE (2012)
The histone- and PRMT5-associated protein COPR5 is required for myogenic differentiation
C. Paul et al.
CELL DEATH AND DIFFERENTIATION (2012)
Genome-Wide miRNA Expression Profiling Identifies miR-9-3 and miR-193a as Targets for DNA Methylation in Non-Small Cell Lung Cancers
Gerwin Heller et al.
CLINICAL CANCER RESEARCH (2012)
Myelin associated inhibitors: A link between injury-induced and experience-dependent plasticity
Feras Akbik et al.
EXPERIMENTAL NEUROLOGY (2012)
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions
Lan Kluwe et al.
GENES CHROMOSOMES & CANCER (2012)
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
Kimberly J. Moles et al.
GENETICS IN MEDICINE (2012)
Characterization of the Nonallelic Homologous Recombination Hotspot PRS3 Associated with Type-3 NF1 Deletions
Antje M. Zickler et al.
HUMAN MUTATION (2012)
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
Julia Vogt et al.
HUMAN MUTATION (2012)
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells
Angelika C. Roehl et al.
HUMAN MUTATION (2012)
Skewed Allele-Specific Expression of the NF1 Gene in Normal Subjects: A Possible Mechanism for Phenotypic Variability in Neurofibromatosis Type 1
Garilyn M. Jentarra et al.
JOURNAL OF CHILD NEUROLOGY (2012)
Microdeletion and Microduplication Syndromes
Anja Weise et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2012)
Neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2012)
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions
Hildegard Kehrer-Sawatzki et al.
NEUROGENETICS (2012)
Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication
Chrystelle Bonnart et al.
NUCLEIC ACIDS RESEARCH (2012)
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
Emilie Sbidian et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1
Rosa Nguyen et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Quantitative Assessment of Whole-Body Tumor Burden in Adult Patients with Neurofibromatosis
Scott R. Plotkin et al.
PLOS ONE (2012)
Centaurin-α2 Interacts with β-Tubulin and Stabilizes Microtubules
Paola Zuccotti et al.
PLOS ONE (2012)
Loss of NF1 Expression in Human Endothelial Cells Promotes Autonomous Proliferation and Altered Vascular Morphogenesis
Anshika Bajaj et al.
PLOS ONE (2012)
Malignant Peripheral Nerve Sheath Tumors: Differentiation Patterns and Immunohistochemical Features - A Mini-Review and Our New Findings
Aitao Guo et al.
JOURNAL OF CANCER (2012)
An emerging role for microRNAs in NF1 tumorigenesis
Ashni Sedani et al.
HUMAN GENOMICS (2012)
Microdeletion and Microduplication Syndromes
Lisenka E. L. M. Vissers et al.
GENOMIC STRUCTURAL VARIANTS: METHODS AND PROTOCOLS (2012)
Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion
Ryosuke Kobayashi et al.
JOURNAL OF PEDIATRIC GENETICS (2012)
Malignant peripheral nerve sheath tumours in inherited disease
D. Gareth R. Evans et al.
CLINICAL SARCOMA RESEARCH (2012)
Inhibition of miR-193a Expression by Max and RXRα Activates K-Ras and PLAU to Mediate Distinct Aspects of Cellular Transformation
Dimitrios Iliopoulos et al.
CANCER RESEARCH (2011)
Emerging functions of myelin-associated proteins during development, neuronal plasticity, and neurodegeneration
Franc Llorens et al.
FASEB JOURNAL (2011)
Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum
T. van der Vaart et al.
GENES BRAIN AND BEHAVIOR (2011)
Atypical Neurofibromas in Neurofibromatosis Type 1 are Premalignant Tumors
Eline Beert et al.
GENES CHROMOSOMES & CANCER (2011)
Mosaic Type-1 NF1 Microdeletions as a Cause of Both Generalized and Segmental Neurofibromatosis Type-1 (NF1)
Ludwine Messiaen et al.
HUMAN MUTATION (2011)
Apaf1 plays a pro-survival role by regulating centrosome morphology and function
Elisabetta Ferraro et al.
JOURNAL OF CELL SCIENCE (2011)
Oligodendrocyte differentiation and myelination defects in OMgp null mice
Xinhua Lee et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients
Eric Pasmant et al.
MOLECULAR MEDICINE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France
Tu Anh Duong et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
RIG-I Mediates Innate Immune Response in Mouse Neurons Following Japanese Encephalitis Virus Infection
Arshed Nazmi et al.
PLOS ONE (2011)
MicroRNAs in the Pathogenesis of Cancer
Francesca Lovat et al.
SEMINARS IN ONCOLOGY (2011)
Predisposition to Cancer Caused by Genetic and Functional Defects of Mammalian Atad5
Daphne W. Bell et al.
PLOS GENETICS (2011)
Speech Characteristics in Neurofibromatosis Type 1
Lotta Alivuotila et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on NF1
C. Shilyansky et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)
The Ubiquitin Ligase Riplet Is Essential for RIG-I-Dependent Innate Immune Responses to RNA Virus Infection
Hiroyuki Oshiumi et al.
CELL HOST & MICROBE (2010)
Developmental Expression of the Oligodendrocyte Myelin Glycoprotein in the Mouse Telencephalon
Vanessa Gil et al.
CEREBRAL CORTEX (2010)
COGNITIVE FUNCTION AND ACADEMIC PERFORMANCE IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1
Kathryn North et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Intrachromosomal Mitotic Nonallelic Homologous Recombination Is the Major Molecular Mechanism Underlying Type-2 NF1 Deletions
Angelika C. Roehl et al.
HUMAN MUTATION (2010)
A Novel Third Type of Recurrent NF1 Microdeletion Mediated by Nonallelic Homologous Recombination between LRRC37B-Containing Low-Copy Repeats in 17q11.2
Kathrin Bengesser et al.
HUMAN MUTATION (2010)
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
Eric Pasmant et al.
HUMAN MUTATION (2010)
Human ELG1 Regulates the Level of Ubiquitinated Proliferating Cell Nuclear Antigen (PCNA) through Its Interactions with PCNA and USP1
Kyoo-young Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
MicroRNA Expression Profiles Associated with Mutational Status and Survival in Malignant Melanoma
Stefano Caramuta et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
V-F Mautner et al.
JOURNAL OF MEDICAL GENETICS (2010)
Oligodendrocyte-Myelin Glycoprotein and Nogo Negatively Regulate Activity-Dependent Synaptic Plasticity
Stephen J. Raiker et al.
JOURNAL OF NEUROSCIENCE (2010)
Neurofibromin regulates corticostriatal inhibitory networks during working memory performance
Carrie Shilyansky et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
RNF135 Mutations Are Not Present in Patients With Sotos Syndrome-Like Features
Remco Visser et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells
Isabelle Martin et al.
BRAIN RESEARCH (2009)
DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity
Nilabja Sikdar et al.
CELL CYCLE (2009)
Cardiomyocyte-Specific Loss of Neurofibromin Promotes Cardiac Hypertrophy and Dysfunction
Junwang Xu et al.
CIRCULATION RESEARCH (2009)
Genome-Wide High-Resolution Analysis of DNA Copy Number Alterations in NFI-Associated Malignant Peripheral Nerve Sheath Tumors Using 32K BAC Array
Kiran K. Mantripragada et al.
GENES CHROMOSOMES & CANCER (2009)
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
Tamim H. Shaikh et al.
GENOME RESEARCH (2009)
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Audrey Sabbagh et al.
HUMAN MOLECULAR GENETICS (2009)
Riplet/RNF135, a RING Finger Protein, Ubiquitinates RIG-I to Promote Interferon-β Induction during the Early Phase of Viral Infection
Hiroyuki Oshiumi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Stability of the small γ-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus
Xavier Fant et al.
JOURNAL OF CELL SCIENCE (2009)
Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH
Eric Pasmant et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation
B. Bartelt-Kirbach et al.
NEUROGENETICS (2009)
Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
Hildegard Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Exploration of tumor-suppressive microRNAs silenced by DNA hypermethylation in oral cancer
Ken-ichi Kozaki et al.
CANCER RESEARCH (2008)
Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning
Yijun Cui et al.
CELL (2008)
The histone-binding protein COPR5 is required for nuclear functions of the protein arginine methyltransferase PRMT5
Matthieu Lacroix et al.
EMBO REPORTS (2008)
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Bernard Grisart et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
Katharina Steinmann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
Eric Pasmant et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis
Balazs Hegedus et al.
HUMAN MOLECULAR GENETICS (2008)
Impact of neurofibromatosis type 1 on school performance
Lianne C. Krab et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Synaptic function for the Nogo-66 receptor NgR1: Regulation of dendritic spine morphology and activity-dependent synaptic strength
Hakjoo Lee et al.
JOURNAL OF NEUROSCIENCE (2008)
Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth
Stephane Budel et al.
JOURNAL OF NEUROSCIENCE (2008)
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
Victor-F. Mautner et al.
NEURO-ONCOLOGY (2008)
PirB is a Functional Receptor for Myelin Inhibitors of Axonal Regeneration
Jasvinder K. Atwal et al.
SCIENCE (2008)
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
H. Kehrer-Sawatzki et al.
JOURNAL OF MEDICAL GENETICS (2008)
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
Katharina Steinmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
A. De Luca et al.
JOURNAL OF MEDICAL GENETICS (2007)
T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning
Shelley L. Hyman et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
S. Sharif et al.
JOURNAL OF MEDICAL GENETICS (2007)
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
Ophelia Maertens et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
Jenny Douglas et al.
NATURE GENETICS (2007)
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients
V. Piddubnyak et al.
CELL DEATH AND DIFFERENTIATION (2007)
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
Xinyan Lu et al.
PLOS ONE (2007)
PI-3-kinase-dependent membrane recruitment of centaurin-α2 is essential for its effect on ARF6-mediated actin cytoskeleton reorganisation
Kanamarlapudi Venkateswarlu et al.
JOURNAL OF CELL SCIENCE (2007)
Shaping the actin cytoskeleton using microtubule tips
Roshni Basu et al.
CURRENT OPINION IN CELL BIOLOGY (2007)
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E. Ferner et al.
JOURNAL OF MEDICAL GENETICS (2007)
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
M. Upadhyaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder
Shelley L. Hyman et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2006)
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
Thomas De Raedt et al.
NATURE GENETICS (2006)
PirB restricts ocular-dominance plasticity in visual cortex
Josh Syken et al.
SCIENCE (2006)
The neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1-/- mice
Fraz A. Ismat et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
M Venturin et al.
NEUROGENETICS (2006)
Connective tissue dysplasia in five new patients with NF1 microdeletions:: further expansion of phenotype and review of the literature -: art. no. e8
KA Mensink et al.
JOURNAL OF MEDICAL GENETICS (2006)
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH
KK Mantripragada et al.
JOURNAL OF MEDICAL GENETICS (2006)
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
SL Hyman et al.
NEUROLOGY (2005)
Experience-driven plasticity of visual cortex limited by myelin and Nogo receptor
AW McGee et al.
SCIENCE (2005)
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval
M Venturin et al.
ANNALS OF HUMAN GENETICS (2005)
Genotype-phenotype associations in Sotos syndrome:: An analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Association between benign and malignant peripheral nerve sheath tumors in NF1
T Tucker et al.
NEUROLOGY (2005)
Childhood overgrowth in patients with common NF1 microdeletions
M Spiegel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2
H Kehrer-Sawatzki et al.
HUMAN GENETICS (2005)
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene
C Gervasini et al.
GENOMICS (2005)
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
M Lammert et al.
ARCHIVES OF DERMATOLOGY (2005)
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
H Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion
SH Forbes et al.
GENES CHROMOSOMES & CANCER (2004)
Intelligence in individuals with a neurofibromatosis type 1 microdeletion
MJ Descheemaeker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
M Venturin et al.
JOURNAL OF MEDICAL GENETICS (2004)
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions
M Venturin et al.
HUMAN GENETICS (2004)
Screening 500 unselected neuroflibromatosis 1 patients for deletions of the NF1 gene
L Kluwe et al.
HUMAN MUTATION (2004)
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle et al.
JOURNAL OF MEDICAL GENETICS (2003)
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region
H Kehrer-Sawatzki et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
E Petek et al.
JOURNAL OF MEDICAL GENETICS (2003)
Complete physical map and gene content of the human NFI tumor suppressor region in human and mouse
DE Jenne et al.
GENES CHROMOSOMES & CANCER (2003)
Elevated risk for MPNST in NF1 microdeletion patients
T De Raedt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Nf1 has an essential role in endothelial cells
AD Gitler et al.
NATURE GENETICS (2003)
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
DGR Evans et al.
JOURNAL OF MEDICAL GENETICS (2002)
Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1
RM Costa et al.
NATURE (2002)
Treatment of ADHD in neurofibromatosis type 1
VF Mautner et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2002)
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
DE Jenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Recombination hotspot in NF1 microdeletion patients
C López-Correa et al.
HUMAN MOLECULAR GENETICS (2001)
Growth in North American white children with neurofibromatosis 1 (NF1)
J Szudek et al.
JOURNAL OF MEDICAL GENETICS (2000)
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
S Tinschert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Unequal meiotic crossover:: A frequent cause of NF1 microdeletions
CL Correa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Growth hormone deficiency in children with neurofibromatosis type 1 without suprasellar lesions
R Vassilopoulou-Sellin et al.
PEDIATRIC NEUROLOGY (2000)
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
P Riva et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
MO Dorschner et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
