about
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in FranceA RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressorStructural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibrominInsights into the pathogenesis of neurofibromatosis 1 vasculopathyFetal antigen 1, a member of the epidermal growth factor superfamily, in neurofibromas and serum from patients with neurofibromatosis type 1Clinical Images: Imaging Manifestations of Orbital Neurofibromatosis Type 1.Von recklinghausens disease: a series of four cases with variable expressionGrowth in North American white children with neurofibromatosis 1 (NF1)Hereditary spinal neurofibromatosis: a rare form of NF1?Paragangliomas/Pheochromocytomas: clinically oriented genetic testingConstitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.Structural analysis of the GAP-related domain from neurofibromin and its implicationsNovel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemiaMortality in neurofibromatosis 1: an analysis using U.S. death certificates.Ras in cancer and developmental diseasesDisorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsRearrangements of chromosome band 3q21 in myeloid leukemia.Disturbed osteoblastic differentiation of fibrous hamartoma cell from congenital pseudarthrosis of the tibia associated with neurofibromatosis type I.Pheochromocytoma: the expanding genetic differential diagnosis.Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.A clinical study of type 1 neurofibromatosis in north west EnglandRecurrent chromosomal imbalances and structurally abnormal breakpoints within complex karyotypes of malignant peripheral nerve sheath tumour and malignant triton tumour: a cytogenetic and molecular cytogenetic study.NFFinder: an online bioinformatics tool for searching similar transcriptomics experiments in the context of drug repositioning.Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region.Peripheral retinal ischemia in a young Indian woman with neurofibromatosis type 1.Globus pallidus high-signal lesions: A predominant MRI finding in children with neurofibromatosis type 1Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndromeMonogenic vessel diseases related to ischemic stroke: a clinical approach.Isolated plexiform neurofibroma over left palm: a case report and review of literature.Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathwaysGenetics of pancreatic neuroendocrine tumors: implications for the clinic.Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1.Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.A brother and sister with breast cancer, BRCA2 mutations and bilateral supernumerary nipples.Molecular and cellular mechanisms of learning disabilities: a focus on NF1.Spinal reconstruction with pedicle screw-based instrumentation and rhBMP-2 in patients with neurofibromatosis and severe dural ectasia and spinal deformity: report of two cases and a review of the literature.
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Molecular genetics of neurofibromatosis type 1 (NF1)
@ast
Molecular genetics of neurofibromatosis type 1 (NF1)
@en
Molecular genetics of neurofibromatosis type 1 (NF1)
@en-gb
Molecular genetics of neurofibromatosis type 1 (NF1)
@nl
type
label
Molecular genetics of neurofibromatosis type 1 (NF1)
@ast
Molecular genetics of neurofibromatosis type 1 (NF1)
@en
Molecular genetics of neurofibromatosis type 1 (NF1)
@en-gb
Molecular genetics of neurofibromatosis type 1 (NF1)
@nl
prefLabel
Molecular genetics of neurofibromatosis type 1 (NF1)
@ast
Molecular genetics of neurofibromatosis type 1 (NF1)
@en
Molecular genetics of neurofibromatosis type 1 (NF1)
@en-gb
Molecular genetics of neurofibromatosis type 1 (NF1)
@nl
P2093
P2860
P3181
P356
P1476
Molecular genetics of neurofibromatosis type 1 (NF1)
@en
P2093
P2860
P3181
P356
10.1136/JMG.33.1.2
P407
P577
1996-01-01T00:00:00Z