Results 151 to 160 of about 124,379,666 (230)

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype. [PDF]

Clin Genet
Akbaş ENK, Toksoy G, Avcı Ş, Altunoğlu U, Kalaycı T, Sayın GY, Kayserili H, Uyguner ZO, Aslanger AD.   +8 more
europepmc   +1 more source

Combined FAK and MEK inhibition suppresses chromosome 8 gain malignant peripheral nerve sheath tumors. [PDF]

J Clin Invest
Wang G, Borcherding DC, Wang J, Zhang X, Yang L, Oztosun G, Sears JJ, Xiao K, Garana BB, Zoberi MI, Bektas AU, Szymanski JJ, Rathore R, Coma S, Pachter JA, Gosline SJ, Pratilas CA, Hirbe AC.   +17 more
europepmc   +1 more source

Consensus recommendations for neurofibromatosis type 1 management in Asia Pacific. [PDF]

iScience
Berman Y, Lee BH, Liu AP, Nishida Y, Tan ES, Wang Z, APAC NF1 Expert Panel.   +6 more
europepmc   +1 more source

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

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