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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationOptic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literaturePheochromocytomas and Paragangliomas: Clinical and Genetic ApproachesRASopathies: unraveling mechanisms with animal modelsMoyamoya Syndrome: A Window of Moyamoya DiseaseMurine models and cell lines for the investigation of pheochromocytoma: applications for future therapies?Alternative splicing of the neurofibromatosis type I pre-mRNADifferential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestationsThe RASopathiesPIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluationDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsRAS diseases in childrenA Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Pedicle screw versus hybrid posterior instrumentation for dystrophic neurofibromatosis scoliosis.Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.Ras and Rap signaling in synaptic plasticity and mental disorders.Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature.Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculatureNeurofibromatosis: chronological history and current issues.Abrogating drug resistance in malignant peripheral nerve sheath tumors by disrupting hyaluronan-CD44 interactions with small hyaluronan oligosaccharides.Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development.Hereditary genodermatoses with cancer predispositionCerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review.Neuroimaging of phakomatoses: overview and advances.Males with familial idiopathic scoliosis: a distinct phenotypic subgroupMonozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1.Paragangliomas/Pheochromocytomas: clinically oriented genetic testingNeurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neuronsA patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.Small bowel volvulus as a complication of von Recklinghausen's disease: a case report.Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicingRare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemiaCancer stem cell-like cells derived from malignant peripheral nerve sheath tumors.Italian Association of Clinical Endocrinologists (AME) position statement: a stepwise clinical approach to the diagnosis of gastroenteropancreatic neuroendocrine neoplasms.Versatile fill coils: initial experience as framing coils for oblong aneurysms. A technical case reportDisorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsMuscle weakness in children with neurofibromatosis type 1.Autism traits in the RASopathies.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Neurofibromatosis type 1 revisited.
@en
Neurofibromatosis type 1 revisited.
@nl
type
label
Neurofibromatosis type 1 revisited.
@en
Neurofibromatosis type 1 revisited.
@nl
prefLabel
Neurofibromatosis type 1 revisited.
@en
Neurofibromatosis type 1 revisited.
@nl
P2093
P356
P1433
P1476
Neurofibromatosis type 1 revisited.
@en
P2093
Bernard L Maria
Bruce Korf
David H Gutmann
John Lucas
Michael A Babcock
Virginia C Williams
P304
P356
10.1542/PEDS.2007-3204
P407
P577
2009-01-01T00:00:00Z