Results 101 to 110 of about 1,775 (150)

Does Cognitive Impairment Explain Behavioral and Social Problems of Children with Neurofibromatosis Type 1? [PDF]

, 2010
Stephan C. J. Huijbregts, Leo M. J. de Sonneville   +1 more
core   +1 more source

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report. [PDF]

Case Rep Ophthalmol
Mancini M, Palino P, Calderone A, Oliverio GW, Aragona P, Meduri A.   +5 more
europepmc   +1 more source

From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care. [PDF]

Orphanet J Rare Dis
Zhao VSC.
europepmc   +1 more source

Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1. [PDF]

Pediatr Dermatol
García-Díaz JD, Balsa-Vázquez J, Rodríguez-Villa A, Férriz E.   +3 more
europepmc   +1 more source

Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC. [PDF]

BMC Pediatr
Wang A, Wang C, Li W, Qiao J, Luo Y, Tian Y.   +5 more
europepmc   +1 more source

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis. [PDF]

Front Genet
Lin T, Chen Z, Dong B, Pan H, Wang H, Zheng X, Chen K, Lai Y, Zhang C, Dong Y, Xu Z, Lin M, Xi X, Xia S, Wang Y, Wang W, Li X, Sun C, Hu Y, Xu F, Zheng J, Jin F, Zhang H, Zheng J.   +23 more
europepmc   +1 more source

Neurocutaneous syndromes. [PDF]

Int J Surg
Qin DA, Qin JX.
europepmc   +1 more source

Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts. [PDF]

Front Neurol
Jancic J, Zarkovic N, Nikolic B, Ivancevic N, Rovcanin B, Nesic D.   +5 more
europepmc   +1 more source

CONCURRENT OCCURRENCE OF NEUROFIBROMATOSIS TYPE 1 AND TURNER SYNDROME: A PEDIATRIC CASE REPORT WITH COMPREHENSIVE LITERATURE REVIEW. [PDF]

Acta Endocrinol (Buchar)
Singin B, Donbaloğlu Z, Çetiner EB, Behram BA, Parlak M, Tuhan H.   +5 more
europepmc   +1 more source

Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient. [PDF]

Cureus
Almahmood H, Al-Sayed S, Agab W.
europepmc   +1 more source