Results 1 to 10 of about 67,096 (237)

Unilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1 [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: Yasunari nodules are choroidal lesions characterized by bright, poorly demarcated multiple lesions detected through near-infrared reflectance imaging and are considered diagnostic for neurofibromatosis type 1 (NF1).
Hamit Ali, Nargis Ahmadova, Özlem Ural Fatihoglu, Mehmet Kocabey, Ahmet Okay Caglayan, Ali Osman Saatci   +5 more
doaj   +2 more sources

Neurofibromatosis type I: points to be considered by general pediatricians [PDF]

Clinical and Experimental Pediatrics, 2021
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and ...
Eungu Kang, Hee Mang Yoon, Beom Hee Lee
doaj   +1 more source

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

Endocrine Connections, 2021
Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of ...
Sandeep Kumar, Anurag Ranjan Lila, Saba Samad Memon, Vijaya Sarathi, Virendra A Patil, Santosh Menon, Neha Mittal, Gagan Prakash, Gaurav Malhotra, Nalini S Shah, Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India   +10 more
doaj   +1 more source

Ocular gamut of neurofibromatosis type 1

Kerala Journal of Ophthalmology, 2023
Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa, Nithisha Tegginamatha, Neethu Narayan Rao, Suyog Ajjampur Suryaprakash   +3 more
doaj   +1 more source

Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report

Case Reports in Oncology, 2023
Sporadically occurring malignant peripheral nerve sheath tumours (MPNSTs) can have a variety of genomic alterations including altered NF1, leading to activation of the RAS-RAF-MEK-ERK signalling pathway. Trametinib is an inhibitor of MEK1 and MEK2.
Nadia Hitchen, Matthew Cross, George Laking, Joanna Connor, Clement Korenbaum   +4 more
doaj   +1 more source

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Kidney & Blood Pressure Research, 2023
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan   +7 more
doaj   +1 more source

suz12 inactivation in p53- and nf1-deficient zebrafish accelerates the onset of malignant peripheral nerve sheath tumors and expands the spectrum of tumor types

Disease Models & Mechanisms, 2020
Polycomb repressive complex 2 (PRC2) is an epigenetic regulator of gene expression that possesses histone methyltransferase activity. PRC2 trimethylates lysine 27 of histone H3 proteins (H3K27me3) as a chromatin modification associated with repressed ...
Felix Oppel, Dong H. Ki, Mark W. Zimmerman, Kenneth N. Ross, Ting Tao, Hui Shi, Shuning He, Jon C. Aster, A. Thomas Look   +8 more
doaj   +1 more source

The Spectrum of NF1 Gene Variations in Southeastern Turkey

Journal of Pediatric Research, 2021
Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement.
Emre Kırat, Hatice Mutlu Albayrak
doaj   +1 more source

Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1

Journal of Behçet Uz Children's Hospital, 2021
Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare condition and involvement of plexiform neurofibroma can cause painful clitoromegaly. A 9-year-old
Özlem Nalbantoğlu, Gülçin Arslan, Beyhan Özkaya, Sinan Genç, Behzat Özkan   +4 more
doaj   +1 more source

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience

Endocrine Oncology, 2023
Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25–40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were ...
José V Lima Jr, Nilza M Scalissi, Kelly C de Oliveira, Susan C Lindsey, Caroline Olivati, Elisa Napolitano Ferreira, Claudio E Kater   +6 more
doaj   +1 more source