Results 1 to 10 of about 16,386 (154)

Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

BMC Medical Genomics, 2023
AbstractNeurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral nervous system or fibromatous skin.
Lisha Yang, Jiewen Fu, Jingliang Cheng, Baixu Zhou, Maomei Chen, Songyot Anuchapreeda, Junjiang Fu   +6 more
openaire   +3 more sources

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene

Human Mutation, 2022
Neurofibromatosis type 1 (NF1) belongs to RASopathies, a group of syndromes caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patients exhibit single inactivating pathogenic variants within the NF1 gene. We performed extensive genetic analyses in two NF1 families disclosing the first two cases of double de novo monoallelic NF1 variants ...
Alessandro Stella, Patrizia Lastella, Luigi Viggiano, Rosanna Bagnulo, Nicoletta Resta   +4 more
openaire   +3 more sources

Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

Cell Death and Disease, 2021
Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the ...
Zhuanli Bai, Yiping Qu, Lin Shi, Xinju Li, Zhen Yang, Meiju Ji, Peng Hou   +6 more
doaj   +1 more source

Neuroibromatosis tipo l: relación genotipo-fenotipo

Acta Neurológica Colombiana, 2020
INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López, Juan Sebastián Botero-Meneses, Luis Octavio Tierradentro-García, Alberto Vélez-van-Meerbeke   +3 more
doaj   +1 more source

Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases

Frontiers in Endocrinology, 2022
Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion ...
Paula B. Araujo, Paula B. Araujo, Mirna S. Carvallo, Ana P. Vidal, João B. Nascimento, Julia M. Wo, Erika O. Naliato, Silvio H. Cunha Neto, Flavia L. Conceição, Rosita Fontes, Vinicius V. de Lima, Denise P. Carvalho, Paula Soares, Paula Soares, Paula Soares, Jorge Lima, Jorge Lima, Jorge Lima, Delmar M. Lourenço, Delmar M. Lourenço, Alice Helena D. Violante   +20 more
doaj   +1 more source

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is caused by biallelic pathogenic variants in one of the mismatch repair genes, and results in early onset colorectal cancer, leukemia, brain tumors and other childhood malignancies.
Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani   +8 more
doaj   +1 more source

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

Additional file 1 of Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

, 2023
Supplementary Material ...
Yang, Lisha, Fu, Jiewen, Cheng, Jingliang, Zhou, Baixu, Chen, Maomei, Anuchapreeda, Songyot, Fu, Junjiang   +6 more
openaire   +1 more source

Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]

, 2014
BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M, Eilber, Fritz C, Federman, Noah, Li, Yunfeng, Nakashima, Jonathan, Shurell, Elizabeth, Smith, Kathleen B, Tam, Brenna M, Tap, William D, Tran, Linh M, Wu, Hong   +10 more
core   +2 more sources