Neurofibromatosis type-1-associated diffuse lung disease in children. Pediatr Pulmonol 2019; 54:1760. Lázaro C, Ravella A, Gaona A, et al. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 1994; 331:1403. Riccardi VM, Lewis RA. Penetrance ...
Pinna V, Daniele P, Calcagni G, et al. Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. Genes (Basel) 2019; 10. Fossali E, Signorini E, Intermite RC, et al. Renovascular disease and hypertension in children w...
Importantly, with continued advancement in our understanding of disease pathogenesis, future improvements in the care of children with NF1 might incorporate improved risk assessments and more personalized molecularly targeted treatments.Kerashvili, Nino...
Up to 50% of children with NF1 will develop non-malignant tumors on the nerve sheaths called plexiform neurofibromas (PN). PN can appear anywhere inside or outside of the body. They are often identified in infancy or childhood but may also appear later in a person’s life.3-5Some...
Challenges in the diagnosis of neurofibromatosis type 1(NF1)in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants[J]. Hum Genet, 2022,141(2):177-191. doi: 10.1007/s00439-021-02410-z . 返回引文位置Google Scholar 百度...
神经纤维瘤病1型(neurofibromatosis 1,NF1,MIM:162200),又称Von Recklinghausen′s disease,是最常见常染色体显性遗传病之一,是由NF1基因缺陷导致神经嵴细胞发育异常继发的多脏器损害,除了经典特征如皮肤多发牛奶咖啡斑、腋窝或腹股沟雀斑、虹膜Lisch结节、周围神经多发性神经纤维瘤与骨损害等,还与恶性肿瘤、神经精神发...
000 people in the United States living with NF1-PN, the majority of whom are adults that have not had an approved medicine until Gomekli.5 Plexiform neurofibromas can transform into malignant peripheral nerve sheath tumors, an aggressive and potentially fatal disease.6 Surgical removal can be ...
Personalizing Adjuvant Targeted Therapy in Early-Stage NSCLC The ARANOTE Phase 3 Trial of Darolutamide Plus Androgen-Deprivation Therapy in Patients With Metastatic Hormone-Sensitive Prostate Cancer: Efficacy and Safety by Disease Volume Long-Term Data From CheckMate 9ER Investigating Nivolumab...
Disease ProgressionCombined Modality TherapyRetrospective StudiesAdolescentAdultChildChild, PreschoolIdentification of new optic pathway tumors (OPTs) and progression of pre-existing OPTs in children with neurofibromatosis 1 (NF1) have been reported infrequently after age 6. The authors present eight children...
No SPRED1 variants were found in the thirteen individuals with no NF1 variant. Of seventy-one individuals with ≥6 CAL and no non-pigmentary criterion aged 0-20years, 47 (66.2%) had an NF1 variant six (8.5%) a SPRED1 variant and 18 (25.3%) no disease causing variant. Using the ...