Results 111 to 120 of about 15,366 (199)

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

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

Familial Angiolipomatosis: A Report of Two Cases and Review of Clinicopathologic Features, Diagnostic Considerations, and Management Challenges in an Underserved Population. [PDF]

Cureus
Kandula A, Rana T, Bown P, Diks J.
europepmc   +1 more source

Metabolic Alterations in Macrophage Subtypes Propel Immune and Stromal Remodeling in Neurofibroma's Malignant Progression. [PDF]

MedComm (2020)
Ge LL, Li YH, Yu X, Xing MY, Gu YH, Wang W, Huang JX, Liu J, Zhang HB, Wei CJ, Wang ZC, Li QF.   +11 more
europepmc   +1 more source

Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome. [PDF]

Endocrinol Diabetes Metab Case Rep
Faria N, Lopes V, Pereira T, Azevedo O, Lourenço A, Lages AS, Machado CM.   +6 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

Embarazada con neurofibromatosis tipo 1

Revista de Ciencias Médicas de Pinar del Río
Amado García Odio, Yanisel Rives González, Ana Ivis Reina Arroyo, Daymeris Álvarez Bolivar   +3 more
doaj  

T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future direction. [PDF]

Brain Commun
Done RJ, Ahmid O, Smith MJ, Evans DG, Pathmanaban ON, Brough D, Couper KN.   +6 more
europepmc   +1 more source