Results 11 to 20 of about 81,955,644 (156)

Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental. [PDF]

, 2008
[spa] Estudios recientes han permitido estimar que aproximadamente un 5% del genoma consiste en duplicaciones segmentarias (DS), secuencias de entre 1-100 kb con un nivel de similitud de más del 95% (Eichler, 2001).
Madrigal Bajo, Irene
core   +6 more sources

Neurofibromatosis segmentaria, a propósito de un caso

, 2022
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David, Sáenz Corral, Claudia Ileana, Ruiz Gómez, Daniela, Vega Memija, María Elisa, Armendariz Barragán, Yonatan, Toussaint Caire, Sonia   +5 more
core   +1 more source

Neurofibromatosis type 1 (NF1) [PDF]

, 1997
Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Huret, JL
core   +1 more source

Neurofibromatosis type 1 (NF1) [PDF]

, 2006
Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Wimmer, K
core   +1 more source

Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso

Revista Colombiana de Ortopedia y Traumatología
Introducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas, Juan Pablo López-García, Carlos Enrique Ramírez-Dávila, Mauricio Zuluaga-Botero, Paola Andrea Kafury-Goeta, Carlos Andrés Lores-Restrepo   +5 more
doaj   +1 more source

Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso [PDF]

, 2017
La neurofibromatosis tipo 1, o enfermedad de von Recklinghausen, es un desorden neurocutáneo hereditario con compromiso gastrointestinal en el 5-25% de los pacientes, siendo sintomático solo el 5%; se presenta posterior a las manifestaciones cutáneas y ...
Adán José Lúquez-Mindiola, Martín Alonso Gómez-Zuleta, Gómez-Zuleta, Martín Alonso, Lúquez-Mindiola, Adán José   +3 more
core   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1 [PDF]

, 2019
Neurofibromatosis type 1 is an autosomal dominant disorder, with multisystemic affectation and high phenotypic variation, caused by NF1 mutation in the locus 17 q11.2 that codes for neurofibromin.The estimated prevalence of people affected by this ...
López, Jairo Enrique, Vallejo, Dora Lucía   +1 more
core  

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source