Results 111 to 120 of about 1,786 (148)

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

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

Cureus
Almahmood H, Al-Sayed S, Agab W.
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

Multiple Skin Adnexal Tumours with Possible Syndromic Association. [PDF]

Cureus
Sridhar J, Balasubramanian A, Joseph L, Fernandez D, B A R.   +4 more
europepmc   +1 more source

Predictors in Optic Pathway Gliomas in Neurofibromatosis Type 1: A Single Center Study. [PDF]

Cancers (Basel)
Marjańska A, Styczyńska J, Jatczak-Gaca A, Stachura J, Marjański M, Styczyński J.   +5 more
europepmc   +1 more source