Results 161 to 170 of about 30,899,280 (234)

Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets. [PDF]

Acta Neuropathol Commun
Brunet A, Coulpier F, Onfroy A, Sako N, Radomska KJ, Aftimos V, Lacroix L, Briand-Suleau A, Maille P, Hermeziu O, Laurendeau I, Pasmant E, Wolkenstein P, Topilko P, Ortonne N.   +14 more
europepmc   +1 more source

An Overview of Genetics of Moyamoya: Beyond <i>RNF213</i> Gene. [PDF]

Int J Mol Sci
Sorte G, Cantone M, Bella R, Salemi M, Zedde M, Zappia M.   +5 more
europepmc   +1 more source

Induced pluripotent stem cell-derived models of malignant nerve sheath tumor progression mimic glial to neuro-mesenchymal transition and uncover therapeutic opportunities. [PDF]

Nat Commun
Uriarte-Arrazola I, Magallón-Lorenz M, Fernández-Rodríguez J, Zhang J, Lee E, Ortega-Bertran S, Creus-Bachiller E, Farrés-Casas J, Wilson KM, McKnight C, Recabo K, Blanco I, Salvador H, Romagosa C, Lázaro C, Mazuelas H, Gel B, Ferrer M, Carrió M, Serra E.   +19 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

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors. [PDF]

Genes Chromosomes Cancer
Stahl MR, Stehn CM, Seeman ZJ, Faulk C, Largaespada DA.   +4 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

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]

J Med Genet
Damen L, Broekema MF, Vogel MJ, Korpershoek E, Koudijs MJ, Boersma BR, Dreijerink KM, Zondervan PJ, Dubbink HJ, van Hest LP.   +9 more
europepmc   +1 more source

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. [PDF]

EBioMedicine
Pang C, Chui MM, Tang W, Kwong AK, Leung HYC, Fan SS, Kwok AW, Chan GC, Luk HM, Wong RM, Yang W, Lo IF, Fung CW, Tung JY, Liu AP, Yeung KS, Wong SS, Mak CC, Chung BH.   +18 more
europepmc   +1 more source

GANAB-related Polycystic Kidney Disease Mimicking the Cutaneous Findings of Neurofibromatosis Type 1. [PDF]

Kidney Med
Chaaban MK, Melville D, Womack Y, Strande N, Harris P, Pittelkow M, Babovic-Vuksanovic D, Baudhuin LM, Osundiji MA.   +8 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