Results 131 to 140 of about 30,899,307 (191)

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

NF1 and SPRED1/2 cooperate through RAS-MAPK-independent functions. [PDF]

Proc Natl Acad Sci U S A
Silva JM, Canche L, Cheng A, Young LC, McCormick F.   +4 more
europepmc   +1 more source

Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review. [PDF]

Front Oncol
Zhang Q, Su S, Geng G, Bai Y, Hu W, Zhang W, Zhang H, Wang G.   +7 more
europepmc   +1 more source

Neurofibromatosis type 1-associated gastric gastrointestinal stromal tumor with PRC2 loss. [PDF]

Clin J Gastroenterol
Iwamuro M, Tanaka T, Hashida S, Ngo DH, Aya Y, Sakaguchi C, Kono Y, Yamamoto H, Otsuka M.   +8 more
europepmc   +1 more source

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]

Am J Case Rep
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B.   +4 more
europepmc   +1 more source

Prime Editing-Based Functional Characterization Supports a Likely Pathogenic Interpretation of <i>NF1</i> c.6394T>C (p.Ser2132Pro). [PDF]

Genes (Basel)
Wu J, Li G, Liu S, Ma C, Wang X.
europepmc   +1 more source

Malignant transformation in a patient with type 1 neurofibromatosis: A case report. [PDF]

J Int Med Res
Li S, Hao W, Xue Y.
europepmc   +1 more source