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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

artículo científico publicado en 2020

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T

scientific article published on 30 November 2020

Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

scientific article published on 10 December 2019

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

artículo científico publicado en 2011

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.

artículo científico publicado en 2013

Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2

artículo científico publicado en 2009

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

scientific article published on 09 September 2019

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis ⬇️

scientific article published on 18 May 2020

Cancer stem cell-like cells derived from malignant peripheral nerve sheath tumors

artículo científico publicado en 2011

Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults

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

artículo científico publicado en 2011

Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1.

artículo científico publicado en 2004

Clinical characterization of children and adolescents with NF1 microdeletions

artículo científico publicado en 2020

Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas

artículo científico publicado en 2012

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

artículo científico publicado en 2018

Combined Targeting of AKT and mTOR Inhibits Proliferation of Human NF1-Associated Malignant Peripheral Nerve Sheath Tumour Cells In Vitro but not in a Xenograft Mouse Model In Vivo

artículo científico publicado en 2020

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

article

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

artículo científico publicado en 2017

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

artículo científico publicado en 2020

Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.

artículo científico publicado en 2008

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

artículo científico publicado en 2016

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis

artículo científico publicado en 2016

Cutaneous neurofibromas: Current clinical and pathologic issues

artículo científico publicado en 2018

Decreased bone mineral density in patients with neurofibromatosis 1.

artículo científico publicado en 2005

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

artículo científico publicado en 2011

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

artículo científico publicado en 2015

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

artículo científico publicado en 2010

Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1.

artículo científico publicado en 2014

Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging

scientific article published on 01 March 2019

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

artículo científico publicado en 2012

Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis

scientific article published on 12 September 2019

Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients

artículo científico publicado en 2005

Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease

scientific article published on 12 September 2018

Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2

artículo científico publicado en 2018

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y

artículo científico publicado en 2019

Early primary tooth eruption in neurofibromatosis 1 individuals

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study

Effector T cell subclasses associate with tumor burden in neurofibromatosis type 1 patients

artículo científico publicado en 2016

Effects of pigment epithelium derived factor (PEDF) on malignant peripheral nerve sheath tumours (MPNSTs).

artículo científico publicado en 2013

Emerging genotype-phenotype relationships in patients with large NF1 deletions

scientific article published on 17 February 2017

Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants

artículo científico publicado en 2020

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

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

scientific article published on 18 March 2005

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

scientific article published on 10 July 2018

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions

artículo científico publicado en 2015

Functional MHC Class II Is Upregulated in Neurofibromin-Deficient Schwann Cells

scientific article published on 10 January 2013

Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin.

artículo científico publicado en 2010

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

scientific article published on 01 October 2009

Genomic imbalance of HMMR/RHAMM regulates the sensitivity and response of malignant peripheral nerve sheath tumour cells to aurora kinase inhibition.

artículo científico publicado en 2013

Germline and somatic NF1 gene mutations in plexiform neurofibromas

scientific article published on 01 August 2008

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

artículo científico publicado en 2009

Growth behavior of plexiform neurofibromas after surgery ⬇️

artículo científico publicado el 18 de abril de 2013

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.

artículo científico publicado en 2012

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

artículo científico publicado en 2008

Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors

artículo científico publicado en 2006

Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

artículo científico publicado en 2017

Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients

artículo científico publicado en 2012

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

artículo científico publicado en 2012

Impact of ADHD in adults with neurofibromatosis type 1: associated psychological and social problems

artículo científico publicado en 2012

Impact of Surgery on Long-Term Results of Hearing in Neurofibromatosis Type-2 Associated Vestibular Schwannomas

scientific article published on 16 September 2019

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions ⬇️

artículo científico publicado el 1 de febrero de 2012

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

artículo científico publicado en 2010

Ipsilateral Sphenoid Wing Dysplasia, Orbital Plexiform Neurofibroma and Fronto-Parietal Dermal Cylindroma in a Patient with Segmental Neurofibromatosis

Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings

artículo científico publicado en 2003

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

artículo científico publicado en 2015

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes

artículo científico publicado en 2010

Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues

artículo científico publicado en 2006

Loss of heterozygosity in tumor cells of a recurrent mandibular giant cell granuloma in neurofibromatosis type 1.

artículo científico publicado en 2007

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1.

artículo científico publicado en 2013

MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools

artículo científico publicado en 2020

Management of NF2-associated vestibular schwannomas in children and young adults: influence of surgery and clinical factors on tumor volume and growth rate

scientific article published on 23 August 2019

Managing NF2-associated vestibular schwannomas in children and young adults: review of an institutional series regarding effects of surgery and bevacizumab on growth rates, tumor volume, and hearing quality

artículo científico publicado en 2020

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1

scientific article published on 01 February 2019

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas

artículo científico publicado en 2008

Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy.

artículo científico publicado en 2013

Methylation-based classification of benign and malignant peripheral nerve sheath tumors

artículo científico publicado en 2016

Minimal Effect of Bevacizumab Treatment on Residual Vestibular Schwannomas after Partial Resection in Young Neurofibromatosis Type 2 Patients

scientific article published on 25 November 2019

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

artículo científico publicado en 2012

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

article

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

artículo científico publicado en 2010

Motor dysfunction in NF1: Mediated by attention deficit or inherent to the disorder?

artículo científico publicado en 2017

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis

artículo científico publicado en 2016

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

artículo científico publicado en 2012

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2.

artículo científico publicado en 2016

Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography

artículo científico publicado en 2006

Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders

artículo científico publicado en 2008

Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms

artículo científico publicado en 2014

Neuronal merlin influences ERBB2 receptor expression on Schwann cells through neuregulin 1 type III signalling

artículo científico publicado en 2013

Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.

artículo científico publicado en 2017

Nilotinib is more potent than imatinib for treating plexiform neurofibroma in vitro and in vivo

artículo científico publicado en 2014

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

artículo científico publicado en 2016

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

artículo científico publicado en 2012

Non-optic glioma in adults and children with neurofibromatosis 1.

scientific article published on 15 February 2017

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

artículo científico publicado en 2020

Overactivation of Ras signaling pathway in CD133+ MPNST cells

artículo científico publicado el 8 de abril de 2012

Overexpression of Midkine in malignant peripheral nerve sheath tumor cells inhibits apoptosis and increases angiogenic potency.

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Peripheral nervous system alterations in infant and adult neurofibromatosis type 2

scientific article published on 12 July 2019

Pharmacotherapy of attention deficit in neurofibromatosis type 1: effects on cognition

artículo científico publicado en 2014

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

artículo científico publicado en 2018

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

scientific article published on 19 December 2012

Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Frequency and Associated Clinical Deficits ⬇️

artículo científico publicado el 31 de mayo de 2011

Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma

artículo científico publicado en 2010

Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens

artículo científico publicado en 2002

Preclinical assessment of the anticancer drug response of plexiform neurofibroma tissue using primary cultures

artículo científico publicado en 2015

Presenting symptoms in children with neurofibromatosis type 2

artículo científico publicado en 2020

Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis

artículo científico publicado en 2002

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

article

Prognostic relevance of FDG PET in patients with neurofibromatosis type-1 and malignant peripheral nerve sheath tumours

artículo científico publicado en 2006

Psychological distress in adults with neurofibromatosis type 1: a longitudinal study ⬇️

artículo científico publicado el 13 de febrero de 2013

Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis

artículo científico publicado en 2012

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

artículo científico publicado en 2015

Ral overactivation in malignant peripheral nerve sheath tumors

artículo científico publicado en 2009

Recommendations for imaging tumor response in neurofibromatosis clinical trials

artículo científico publicado en 2013

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials

artículo científico publicado en 2016

Reduced dosage of bevacizumab in treatment of vestibular schwannomas in patients with neurofibromatosis type 2.

artículo científico publicado en 2015

Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

artículo científico publicado en 2014

Response to trametinib treatment in progressive pediatric low-grade glioma patients

artículo científico publicado en 2020

Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Screening for large mutations of the NF2 gene

artículo científico publicado en 2005

Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.

artículo científico publicado en 2013

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

artículo científico publicado en 2018

Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors

artículo científico publicado en 2013

Sichuan pepper extracts block the PAK1/cyclin D1 pathway and the growth of NF1-deficient cancer xenograft in mice

artículo científico publicado en 2006

Signal therapy of NF1-deficient tumor xenograft in mice by the anti-PAK1 drug FK228.

artículo científico publicado en 2005

Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors

scientific article published on 01 August 2004

Sulindac derivatives inhibit cell growth and induce apoptosis in primary cells from malignant peripheral nerve sheath tumors of NF1-patients

artículo científico publicado en 2004

Surgical management of peripheral nerve sheath tumours in children, with special consideration of neurofibromatoses

scientific article published on 06 June 2020

Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors

scientific article published on 04 February 2020

Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individuals

scientific article published on 01 March 2008

The Cellular Retinoic Acid Binding Protein 2 Promotes Survival of Malignant Peripheral Nerve Sheath Tumor Cells

artículo científico publicado en 2017

The Neurofibromatoses

scientific article published on 01 May 2020

The adverse influence of attention‐deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1 ⬇️

artículo científico publicado el 9 de agosto de 2012

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1

scientific article published on 28 April 2020

The importance of nerve microenvironment for schwannoma development.

artículo científico publicado en 2016

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

artículo científico publicado en 2017

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Treatment of orthotopic malignant peripheral nerve sheath tumors with oncolytic herpes simplex virus.

artículo científico publicado en 2014

Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images

artículo científico publicado en 2009

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

scientific article published on 26 November 2018

Unilateral gynaecomastia in a 16-month-old boy with neurofibromatosis type 1 - case report and brief review of the literature

artículo científico publicado en 2015

Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype

artículo científico publicado en 2006

Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target

scientific article published on 19 March 2020

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study

artículo científico publicado en 2002

Vitamin D receptor expression and serum 25(OH)D concentration inversely associates with burden of neurofibromas

artículo científico publicado en 2019

Von Recklinghausen Gesellschaft: the German lay organization for patients with neurofibromatosis

artículo científico publicado en 2003

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers

scientific article published on 01 February 2010

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

article published in 2014

Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis

artículo científico publicado en 2011

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