Results 151 to 160 of about 31,197,545 (235)

Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort. [PDF]

Genes (Basel)
Butnariu LI, Grigore E, Schreiner TG, Darie L, Popa S, Grigore I.   +5 more
europepmc   +1 more source

Gene therapy and Immunotherapy in Neurofibromatosis 1

Brain and Spine
Dmitriy Labunskiy, Svetlana Kiryukhina, Mikhail Chepoy, Elizaveta Gavrilenko, Yulia Strelchenko   +4 more
openaire   +1 more source

Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis. [PDF]

J Neurol
Moreno-Charco E, Pascual-Morena C, Álvarez-Bueno C, Zuheros-Lara B, Martínez-García I, Martínez-Sánchez P, Contreras-Molina M, Patiño-Cardona S.   +7 more
europepmc   +1 more source

One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis. [PDF]

Children (Basel)
Melit LE, Borka Balas R, Tripon F, Prisca RA, Toth T, Stangaciu A, Najjar K.   +6 more
europepmc   +1 more source

A case of neurofibromatosis type 1 with malignant peripheral nerve sheath tumor and metastatic pheochromocytoma. [PDF]

JCEM Case Rep
Umamoto K, Uchihara M, Tanase-Nakao K, Hyodo A, Kubota M, Tanabe A.   +5 more
europepmc   +1 more source

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses. [PDF]

Einstein (Sao Paulo)
Angeloni LL, Jorente J, Oliveira Sobrinho RP, Gil-da-Silva-Lopes VL, Vidoti-Nascimento CG, Guaragna MS, Vieira TP, Steiner CE, Brazilian Rare Genomes Project Consortium, Teixeira ACB, Coelho AVC, Quaio CRAC, Moreno CA, Perrone E, Nascimento Junior JBD, Espolaor JGA, Prota JRM, Oliveira Filho JB, Ceroni JRM, Chen K, Ferreira LT, Santana LS, Mofatto LS, Virmond LDA, Silva MFB, Migliavacca MP, Minillo RM, Yamada RY, Sitnik R, Almeida TF, Silva TYT, Cintra VP.   +31 more
europepmc   +1 more source

An Allometric Approach to Fine-Mapping Subcortical Volume Alterations in RASopathies. [PDF]

eNeuro
McGhee-Deakin CA, Russo O, Plank JR, Green T.   +3 more
europepmc   +1 more source

Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factors. [PDF]

Front Endocrinol (Lausanne)
Amodeo ME, Mirra G, Deodati A, Cianfarani S.   +3 more
europepmc   +1 more source

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report. [PDF]

Clin Case Rep
Qi Y, Wang S, Sun Z, Du J, Li J.
europepmc   +1 more source

pathophysiology of neurofibromatosis type 1

Neurofibromatoses are inherited disorders, designated as neurofibromatosis type 1 (NF1), neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath.
Theos , A.
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