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Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens
HUMAN REPRODUCTION UPDATE
Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?
EUROPEAN JOURNAL OF DERMATOLOGY
Defect of lck in a patient with common variable immunodeficiency
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Long-term visual outcome in patients with anterior visual pathway gliomas
JOURNAL OF NEURO-OPHTHALMOLOGY
Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains
NATURE GENETICS
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1
NATURE GENETICS
Pituitary morphologic anomalies and magnetic resonance imaging in pediatric growth hormone deficiency
ENDOCRINOLOGIST
Genetically engineered mouse models of astrocytoma: GEMs in the rough?
SEMINARS IN CANCER BIOLOGY
Modeling myeloid leukemia tumor suppressor gene inactivation in the mouse
SEMINARS IN CANCER BIOLOGY
Signal transduction pathways in sarcoma as targets for therapeutic intervention
CURRENT OPINION IN ONCOLOGY
Recombination hotspot in NF1 microdeletion patients
HUMAN MOLECULAR GENETICS
Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens
APMIS
Arterial distensibility and ambulatory blood pressure monitoring in young patients with neurofibromatosis type 1
AMERICAN JOURNAL OF HYPERTENSION
Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes
GLIA
Ampullary adenocarcinoma in Neurofibromatosis Type 1. Case report and literature review
MODERN PATHOLOGY
Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain
GENES & DEVELOPMENT
Visual-evoked potentials in the assessment of optic gliomas
PEDIATRIC NEUROLOGY
Precocious puberty in children with tumours of the suprasellar and pineal areas: Organic central precocious puberty
ACTA PAEDIATRICA
Proton magnetic resonance spectroscopy of brain lesions in children with neurofibromatosis type 1
MAGNETIC RESONANCE IMAGING
Diffusion property in a hamartomatous lesion of neurofibromatosis type 1
JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers
HUMAN GENETICS
Schwann cell proliferative responses to cAMP and Nf1 are mediated by cyclin D1
JOURNAL OF NEUROSCIENCE
Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1
PEDIATRIC SURGERY INTERNATIONAL
Mouse astrocytoma models: Embryonic stem cell mediated transgenesis
JOURNAL OF NEURO-ONCOLOGY
Lack of association of the (AAAT)(6) allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism
AMERICAN JOURNAL OF MEDICAL GENETICS
Genotype analysis of the NF1 gene in the French Canadians from the Quebec population
AMERICAN JOURNAL OF MEDICAL GENETICS
NF1 tumor suppressor gene function: Narrowing the GAP
CELL
Early abdominal manifestation of neurofibromatosis type 1 (NF 1) in a 12-year-old boy
ZENTRALBLATT FUR CHIRURGIE
Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly
NEURORADIOLOGY
H-1 MR spectroscopy evidence for the varied nature of asymptomatic focal brain lesions in neurofibromatosis type 1
NEURORADIOLOGY
Why do benign astrocytomas become malignant in NF1?
NEUROLOGY
Cancer-related gene expression profiles in NF1-associated pilocytic astrocytomas
NEUROLOGY
Control of Drosophila perineurial glial growth by interacting neurotransmitter-mediated signaling pathways
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Benignan and malignant tumours in patients with neurofibromatosis type 1
MEDICINA CLINICA
Retroviral integration at the Epi1 locus cooperates with Nf1 gene loss in the progression to acute myeloid leukemia
JOURNAL OF VIROLOGY
Identification and functional characterization of thromboxane A(2) receptors in Schwann cells
JOURNAL OF NEUROCHEMISTRY
A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
JOURNAL OF MOLECULAR BIOLOGY
Limited contribution of interchromosomal gene conversion to NF1 gene mutation
JOURNAL OF MEDICAL GENETICS
GTPase stimulation in shrimp Ras(Q(61)K) with geranylgeranyl pyrophosphatebut not mammalian GAP
JOURNAL OF EXPERIMENTAL ZOOLOGY
Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro
JOURNAL OF EXPERIMENTAL MEDICINE
Quantitative effects of Nf1 inactivation on in vivo hematopoiesis
JOURNAL OF CLINICAL INVESTIGATION
Activation of the Rap1 guanine nucleotide exchange gene, CalDAG-GEF I, in BXH-2 murine myeloid leukemia
JOURNAL OF BIOLOGICAL CHEMISTRY
Phosphorylation of neurofibromin by cAMP-dependent protein kinase is regulated via a cellular association of N-G,N-G-dimethylarginine dimethylaminohydrolase
FEBS LETTERS
Therapeutic efficacy of G207 in a novel peripheral nerve sheath tumor model
EXPERIMENTAL NEUROLOGY
Neurofibromatosis: clinical presentations and anaesthetic implications
BRITISH JOURNAL OF ANAESTHESIA
Spontaneous regression of optic gliomas - Thirteen cases documented by serial neuroimaging
ARCHIVES OF OPHTHALMOLOGY
Expanding our concepts of mosaic disorders of skin
ARCHIVES OF DERMATOLOGY
Mortality in neurofibromatosis 1: An analysis using US death certificates
AMERICAN JOURNAL OF HUMAN GENETICS
Intracerebral haemorrhage in neurofibromatosis type I
ACTA NEUROCHIRURGICA
The inherited susceptibility to cancer
CELLULAR AND MOLECULAR LIFE SCIENCES
Ras-related and MAPK signalling in neuronal plasticity and memory formation
CELLULAR AND MOLECULAR LIFE SCIENCES
The role of Ras and other low molecular weight guanine nucleotide (GTP)-binding proteins during hematopoietic cell differentiation
CELLULAR AND MOLECULAR LIFE SCIENCES
H-ras-1 point mutation in malignant peripheral nerve sheath tumors: Polymerase chain reaction restriction fragment length polymorphism analysis and direct sequencing from paraffin-embedded tissues
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Nf1 and Gmcsf interact in myeloid leukemogenesis
MOLECULAR CELL
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects
NATURE GENETICS
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
HUMAN MUTATION
Culture of cytogenetically abnormal Schwann cells from benign and malignant NFI tumors
GENES CHROMOSOMES & CANCER
Neurofibromin negatively regulates neurotrophin signaling through p21(ras)in embryonic sensory neurons
MOLECULAR AND CELLULAR NEUROSCIENCE
Molecular genetics in pediatric dermatology
CURRENT OPINION IN PEDIATRICS
Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22
EUROPEAN JOURNAL OF HUMAN GENETICS
Late effects of therapy of thalamic and hypothalamic tumors in childhood: Vascular, neurobehavioral and neoplastic
PEDIATRIC NEUROSURGERY
Spontaneous regression of low-grade astrocytomas in childhood
PEDIATRIC NEUROSURGERY
Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA
HUMAN MOLECULAR GENETICS
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
HUMAN MOLECULAR GENETICS
Renovascular disease and hypertension in children with neurofibromatosis
PEDIATRIC NEPHROLOGY
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions
GENOMICS
Visual pathway tumors and hydrocephalus
PEDIATRIC HEMATOLOGY AND ONCOLOGY
Proton MR spectroscopy of the brain
SEMINARS IN ULTRASOUND CT AND MRI
Associations of clinical features in neurofibromatosis 1 (NF1)
GENETIC EPIDEMIOLOGY
New insights on the biology of myelin basic protein gene: The neural-immune connection
JOURNAL OF NEUROSCIENCE RESEARCH
Solitary neurofibroma of the mesentery: Report of a case and review of theliterature
PATHOLOGY RESEARCH AND PRACTICE
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
HUMAN GENETICS
When do children with optic pathway tumours need treatment? An oncologicalperspective in 106 patients treated in a single centre
EUROPEAN JOURNAL OF PEDIATRICS
Multiple coronary artery aneurysms in a child with neurofibromatosis type 1
EUROPEAN JOURNAL OF PEDIATRICS
Oscillation and rapid changes of NF1 mRNA steady-state levels in cultured human keratinocytes
ARCHIVES OF DERMATOLOGICAL RESEARCH
Neurofibromatosis type 1 and precocious puberty
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Growth hormone hypersecretion in a girl with neurofibromatosis type 1 and an optic nerve glioma: Resolution following chemotherapy
HORMONE RESEARCH
Pseudarthrosis in neurofibromatosis type 1
KLINISCHE PADIATRIE
Gigantism due to growth hormone excess in a boy with optic glioma
CLINICAL ENDOCRINOLOGY
Cerebellar gliomas in children with NF1: pathology and surgery
CHILDS NERVOUS SYSTEM
Dysembryoplastic neuroepithelial tumors
ANNALES DE PATHOLOGIE
The Genoa experience of prenatal diagnosis in NF1
PRENATAL DIAGNOSIS
Pediatric neuroradiology
AMERICAN JOURNAL OF NEURORADIOLOGY
Update on familial cancer syndromes and the skin
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
Generalized nerve sheath tumors in neurofibromatosis type 1 (NF1) - A casereport
NEUROPEDIATRICS
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b
ELECTROPHORESIS
Septum pellucidum hamartomas in neurofibromatosis type 1
JOURNAL OF NEURORADIOLOGY
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
AMERICAN JOURNAL OF MEDICAL GENETICS
Growth curves for height and head circumference
AMERICAN JOURNAL OF MEDICAL GENETICS
Iris melanoma in a patient with neurofibromatosis
SURVEY OF OPHTHALMOLOGY
Dermatologic clues to inherited disease
PEDIATRIC CLINICS OF NORTH AMERICA
Involution of diencephalic pilocytic astrocytoma after partial resection -Report of two cases in adults
JOURNAL OF NEUROSURGERY
A search for evidence of somatic mutations in the NF1 gene
JOURNAL OF MEDICAL GENETICS
New function for NF1 tumor suppressor
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo
JOURNAL OF EXPERIMENTAL MEDICINE
Mutations in the protein kinase A R1 alpha regulatory subunit cause familial cardiac myxomas and Carney complex
JOURNAL OF CLINICAL INVESTIGATION
Neurofibromatosis type 1 and McCune-Albright syndrome occurring in the same patient
BRITISH JOURNAL OF DERMATOLOGY
Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cell
BLOOD
Molecular and cellular mechanisms of cognitive function: Implications for psychiatric disorders
BIOLOGICAL PSYCHIATRY
Unequal meiotic crossover: A frequent cause of NF1 microdeletions
AMERICAN JOURNAL OF HUMAN GENETICS