Biallelic Mismatch Repair Deficiency in an Adolescent Female
Case Reports in Genetics, 2018 Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth +6 more
doaj +1 more source
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
core +1 more source
A proteasome-resistant fragment of NIK mediates oncogenic NF-κB signaling in schwannomas [PDF]
, 2019 Schwannomas are common, highly morbid and medically untreatable tumors that can arise in patients with germ line as well as somatic mutations in neurofibromatosis type 2 (NF2).
Angus, Steven P. +23 more
core +1 more source
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
core +2 more sources
Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]
, 2019 We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C +6 more
core
Type 1 Neurofibromatosis Gene: Correction [PDF]
Science, 1990 Margaret R. Wallace +3 more
openaire +2 more sources
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]
, 2019 Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T +4 more
core
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions [PDF]
, 2012 BACKGROUND: Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions
David N Cooper +6 more
core +2 more sources
Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1
The Turkish Journal of Pediatrics, 2011 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Yunus Kasim Terzi +4 more
doaj
Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1
Бюллетень сибирской медицины, 2010 To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade ...
A. M. Zaidman +4 more
doaj +1 more source