Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 - Wikidata - awgldk - TriplyDB

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

http://www.wikidata.org/entity/Q36653938

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I.Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature.LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes Hereditary genodermatoses with cancer predisposition Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.Paragangliomas/Pheochromocytomas: clinically oriented genetic testing Neurocognitive profiles of learning disabled children with neurofibromatosis type 1 Solitary neurofibroma of eyelid masquerading as chalazion.Huge intrathoracic malignant peripheral nerve sheath tumor in an adolescent with neurofibromatosis type 1.Preclinical evaluation of the combination of mTOR and proteasome inhibitors with radiotherapy in malignant peripheral nerve sheath tumors Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.Neurofibromatoses: part 1 - diagnosis and differential diagnosis.Non-invasive endothelial function assessment in patients with neurofibromatosis type 1: a cross-sectional study.Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors.Carpal tunnel syndrome due to a plexiform neurofibroma of the median nerve in a neurofibromatosis type 1 patient: clinical approach.The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells Health-related quality of life in preschool children in five health conditions.Glomus tumor of the thenar eminence in neurofibromatosis type 1: case report and literature review.An unusual case of multiple intraoral manifestations of neurofibromatosis type 1: case report with literature review.Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.Spinal cord ependymoma associated with neurofibromatosis 1 : case report and review of the literature.Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development.Bilateral extensive linear nodules on upper extremities in a child - a rare presentation of neurofibromatosis type 1 (Recklinghausen disease)Kyphoscoliosis: looking beyond the spine.Recurrent abdominal complaints caused by a cecal neurofibroma: a case report.Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Genetics for the general internist A case of persistent foot pain in a neurofibromatosis type I patient.

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Journal of Medical Genetics

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Amanda Kirby

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Celia Moss

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Christine Steiger

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Harry Willshaw

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Meena Upadhyaya

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Michael Gleeson

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Nick Thomas

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Richard Towers

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Susan M Huson

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P2860

The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

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

Plexiform neurofibromas in NF1: toward biologic-based therapy

Diagnostic criteria for schwannomatosis

The neurofibromatosis type 1 gene encodes a protein related to GAP

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment

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