C
Cristina Touguinha Neves Medina
Researcher at Universidade Católica de Brasília
Publications - 6
Citations - 182
Cristina Touguinha Neves Medina is an academic researcher from Universidade Católica de Brasília. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 5, co-authored 6 publications receiving 131 citations. Previous affiliations of Cristina Touguinha Neves Medina include Junta of Andalusia.
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Adipose-derived mesenchymal stem cells (AdMSC) for the treatment of secondary-progressive multiple sclerosis: A triple blinded, placebo controlled, randomized phase I/II safety and feasibility study.
Oscar Fernández,Guillermo Izquierdo,Victoria Fernández,Laura Leyva,Virginia Reyes,Miguel Guerrero,Antonio León,Carlos Arnaiz,Guillermo Navarro,M. D. Paramo,Antonio De la Cuesta,Bernat Soria,Abdelkrim Hmadcha,David Pozo,Rafael Fernandez-Montesinos,Maria do Carmo Leal,Itziar Ochotorena,Patricia Gálvez,Maria Angeles Geniz,Francisco Javier Barón,Rosario Mata,Cristina Touguinha Neves Medina,Carlos Caparrós-Escudero,Ana Cardesa,Natividad Cuende +24 more
TL;DR: Infusion of autologous AdMSCs is safe and feasible in patients with SPMS and measures of treatment effect showed an inconclusive trend of efficacy.
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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
Daniel L. Polla,Maria Teresinha de Oliveira Cardoso,Mayara C. B. Silva,Isabela C. C. Cardoso,Cristina Touguinha Neves Medina,Rosenelle Araujo,Camila Fernandes,Alessandra Maria Moreira Reis,Rosangela Vieira Andrade,Rinaldo Wellerson Pereira,Robert Pogue +10 more
TL;DR: The results suggest that the NGS panel provides a fast, accurate and cost-effective molecular diagnostic tool for identifying mutations in a highly genetically heterogeneous set of disorders such as genetic skeletal disorders.
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Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura
Renata Lazari Sandoval,Renata Lazari Sandoval,Carlos A. M. Zaconeta,Paulo Roberto Margotto,Maria Teresinha de Oliveira Cardoso,Evely Mirella Santos França,Cristina Touguinha Neves Medina,Talyta Matos Canó,Aline Saliba de Faria +8 more
TL;DR: A SHCC tambem pode cursar com doenca de Hirschsprung e tumores derivados da crista neural, alem de grande variabilidade fenotipica intrafamiliar no periodo neonatal pode simular quadros de sepse e erros inatos do metabolismo.
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review
Renata Lazari Sandoval,Renata Lazari Sandoval,Carlos A. M. Zaconeta,Paulo Roberto Margotto,Maria Teresinha de Oliveira Cardoso,Evely Mirella Santos França,Cristina Touguinha Neves Medina,Talyta Matos Canó,Aline Saliba de Faria +8 more
TL;DR: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction, which can simulate cases of sepsis and inborn errors of metabolism.
Journal ArticleDOI
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
Cristina Touguinha Neves Medina,Renata Lazari Sandoval,Gabriela Pintar de Oliveira,Karina C. Silveira,Denise P. Cavalcanti,Robert Pogue +5 more
TL;DR: The two patients reported here represent the TRIP11 spectrum of skeletal dysplasia ranging from mild to lethal phenotypes, thereby enabling one to suggest a genotype–phenotype correlation in these diseases.