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Con el objetivo de caracterizar la Neurofibromatosis 1 (NF1) se realizó un estudio analítico y transversal en Pinar del Río, desde 2004 hasta 2007.
Orraca Castillo, Miladys
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Neurofibromatosis tipo 1. Revision bibliográfica [PDF]
La Neurofibromatosis es una entidad clínica que se clasifica dentro del grupo de las Facomatosis, esuna enfermedad dominante autosomal caracterizada por el crecimiento desordenado de tejidos finosectodérmicos que producen lesiones cutáneas ...
Río Ysla, Maily del +2 more
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Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]
Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda +7 more
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Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna +6 more
wiley +1 more source
Cariotipo de alta resolución en sangre periférica en la Neurofibromatosis 1 / High Resolution Karyotype in Peripheral Blood in Neurofibromatosis 1 [PDF]
La Neurofibromatosis tipo 1 (NF1) es uno de los desórdenes autosómicos dominantes más comunes y está causado por defectos en el gen NF1 situado en el cromosoma 17q11.2.
Orraca Castillo, Miladys +2 more
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Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta +4 more
doaj
The Hippo–YAP/TAZ–TEAD pathway integrates mechanical and biochemical cues to govern organ growth, regeneration, cancer, and fibrosis. This review dissects pathway physiology, TEAD structural pharmacology and ligandable pockets, and therapeutic strategies spanning palmitoylation‐pocket inhibitors, PROTAC degraders, and gene/RNA therapies, highlighting ...
Xiaodan Qu, Zhan‐you Wang
wiley +1 more source
Building a precision therapeutics program at a tertiary care children's hospital
Pediatric Investigation, EarlyView.
Luke Hamilton +8 more
wiley +1 more source
ABSTRACT Introduction Many survivors of childhood brain tumors face long‐term adverse health outcomes like obesity. Uncertainties surround the effect of interventions to manage obesity‐related outcomes in survivors of childhood brain tumors. The goal of this updated systematic review and meta‐analysis was to provide the best estimate of the treatment ...
David Hart +11 more
wiley +1 more source
Neurofibromatosis is a common genodermatosis, whose diagnosis often involves theparticipation of a dermatologist. A case of a 38-year-old female patient with four café-au-laitmacules and eleven neurofibromas on clinical examination is presented ...
Milman, Laura de Mattos +2 more
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