Results 101 to 110 of about 24,332 (187)

Functional regulation of the Neurofibromatosis 2 tumor suppressor merlin [PDF]

, 2011
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder manifested by the formation of multiple benign tumors of the nervous system. Affected individuals typically develop bilateral vestibular schwannomas which lead to deafness and balance disorders.
Pehrsson, Minja
core  

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1 [PDF]

The Journal of Pediatrics, 2015
Beth A, Pletcher, Caroline, Hayes-Rosen
openaire   +2 more sources

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya   +8 more
doaj   +1 more source

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants. [PDF]

Ann Intern Med Clin Cases
Harahsheh EY, Merritt E, Tejon JB, Olarewaju BA, Asif MB, Babovic-Vuksanovic D, Osundiji MA.   +6 more
europepmc   +1 more source

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study. [PDF]

Genes (Basel)
Idrissova Z, Rakhimbekova F, Orazgaliyeva M, Zhaksybek M, Kovaleva K, Abdikerim S, Ormankyzy A, Vasiluev P.   +7 more
europepmc   +1 more source

Unilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1. [PDF]

Eur J Case Rep Intern Med
Ali H, Ahmadova N, Fatihoglu OU, Kocabey M, Caglayan AO, Saatci AO.   +5 more
europepmc   +1 more source

IFN signaling at the nexus of the radiotherapy response in malignant peripheral nerve sheath tumors. [PDF]

J Clin Invest
Pitroda SP, Weichselbaum RR.
europepmc   +1 more source

Merlin's disappearing act: NF2 loss conjures pancreatic cancer survival in the hostile tumor microenvironment. [PDF]

J Clin Invest
Ferreira S, Attardi LD.
europepmc   +1 more source