The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
about
Synchronously diagnosed pre-sacral neurofibroma and cutaneous spitzoid melanoma: a fortuitous association?Neutrophil elastase mutations in congenital neutropeniaQuantitative assessment of whole-body tumor burden in adult patients with neurofibromatosisAbdominal schwannoma in a case of neurofibromatosis type 2: A report of a rare combination.Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Recurrent schwannoma postirradiation: histological review reveals mixed schwannoma and meningioma.Localized tongue Amyloidosis in a Patient with Neurofibromatosis type II.Hereditary genodermatoses with cancer predispositionMolecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.Natural history of neurofibromatosis type 2 with onset before the age of 1 year.Genetics of neurofibromatosis 1 and the NF1 gene.Therapy for plexiform neurofibromas in children with neurofibromatosis 1: an overview.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Ophthalmological manifestations in segmental neurofibromatosis type 1Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.Multiple, unilateral lisch nodules in the absence of other manifestations of neurofibromatosis type 1Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.Mosaicism in genetic skin disorders.Guidelines for the diagnosis and management of individuals with neurofibromatosis 1CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroidsFacial plexiform neurofibroma: is it truly just skin deep?Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.Localized neurofibromatosis of the female genital system: a case report and review of the literature.Mosaic generalized neurofibromatosis 1: report of two cases.The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.Mosaic Neurofibromatosis Type 1: A Systematic Review.Annual review of children with neurofibromatosis type 1.Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.Segmental neurofibromatosis presenting with congenital excessive skin folds.Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors.Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.Plexiform neurofibroma mimicking a pancreatic cystic tumour.Parkinson's disease: is it all in the genes?Lentiginous mosaicism and mosaic generalized neurofibromatosis type 1.Inherited predisposition to cancer: a historical overview.Update on 13 Syndromes Affecting Craniofacial and Dental Structures.
P2860
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P2860
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@ast
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@en
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@nl
type
label
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@ast
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@en
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@nl
prefLabel
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@ast
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@en
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
@nl
P356
P1433
P1476
The clinical and diagnostic implications of mosaicism in the neurofibromatoses
@en
P2093
P304
P356
10.1212/WNL.56.11.1433
P407
P577
2001-06-01T00:00:00Z