Results 1 to 10 of about 81,955,644 (156)

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature.
Qi Y, Wang S, Sun Z, Du J, Li J.
europepmc   +2 more sources

Genomic profiling of Mexican patients with B-cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants. [PDF]

J Pathol Clin Res
Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Martínez Anaya D, Juárez-Velázquez MDR, Juárez Figueroa U, Dean M, Salas Labadía C, Valladares Coyotecatl M, Reyes León A, López Santiago N, Juárez Villegas L, Zapata Tarrés M, Pérez-Vera P.   +10 more
europepmc   +2 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

Tumores de Sistema Nervioso asociados con la Neurofibromatosis tipo 1 y 2

Revista Clínica de la Escuela de Medicina UCR-HSJD, 2018
La Neurofibromatosis, hoy entendida como un concepto abarcando dos tipos de enfermedades diferentes (tipo 1 y tipo 2) es una enfermedad genética perteneciente al  grupo de patologías neurocutáneas, inicialmente descrita en 1849 y que aún en la ...
Carlos Mario Sequeira Quesada, Daniel Andrés Casares Fallas   +1 more
doaj   +1 more source

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

BMC Pediatrics, 2019
Background Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes. Case presentation We present a
Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho   +2 more
doaj   +1 more source

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Pharmacogenomics and Personalized Medicine, 2022
Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H   +3 more
doaj  

NF1 microdeletion syndrome: case report of two new patients

Italian Journal of Pediatrics, 2019
Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients.
Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla   +5 more
doaj   +1 more source