Results 31 to 40 of about 128,358 (156)

XLIII Conferências de Genética Doutor Jacinto Magalhães: resumo das comunicações [PDF]

, 2014
Suplemento da revista Nascer & Crescer com os resumos dos Posters e Comunicações orais apresentadas durante as XLIII Conferências de Genética Doutor Jacinto Magalhães que decorreu no dia 28 de março de 2014, na cidade do Porto ...
Alvares, S.
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Therapeutic Modulation of Inflammatory Signaling via Physalis Peruviana‐Derived Exosomes: A Targeted Effect on IKK/NFκB/STAT1

Molecular Nutrition &Food Research, Volume 70, Issue 7, 15 April 2026.
Exosomes derived from Physalis peruviana contain various bioactive compounds, such as RNAs, proteins, and secondary metabolites. These exosomes have been shown to contain different types of carotenoids that may have therapeutic properties. Physalis peruviana exosomes are capable of exhibiting anti‐inflammatory effects by influencing the IKK/NFκB/STAT1 ...
Cristian Martínez Fajardo, Lucía Morote, Susana López‐López, Alberto José López Jiménez, Oussama Ahrazem, Lourdes Gómez‐Gómez   +5 more
wiley   +1 more source

Perinatal outcomes of twin pregnancies complicated by early twin‐to‐twin transfusion syndrome treated with fetoscopic laser surgery

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 4, Page 461-469, April 2026.
ABSTRACT Objective The aim of this study was to evaluate the perinatal outcomes of monochorionic diamniotic (MCDA) twin pregnancies complicated by early twin‐to‐twin transfusion syndrome (TTTS) treated with fetoscopic laser surgery (FLS), and to compare rates of fetal survival across Quintero stages.
F. G. Sileo, A. Khalil, J. Binder, E. Brunelli, N. Chianchiano, C. M. Coutinho, F. D'Antonio, M. Döbert, A. Fichera, Y. Gielchinsky, K. Hecher, C. Iacovella, S. Malone, A. Martinez‐Varea, L. N. Nørgaard, C. Rodo, T. Simões, F. Slaghekke, Y. Yinon, Collaborators, F. Bahlmann, E. Carreras, S. Gueli Alletti, O. Yaghi, E. Lopriore, M. M. Okido, A. Markovich, D. Mohammed, E. Moreno, S. Prasad, F. Prefumo, A. Queirós, J. Morales‐Roselló, K. Sundberg, M. Yeoh, A. Youssef   +35 more
wiley   +1 more source

EL SÍNDROME DE ASPERGER Y SU CLASIFICACIÓN [PDF]

, 2009
El artículo trata sobre el Síndrome de Asperger, que es un trastorno generalizado del desarrollo. Su causa primaria parece ser genética y recientemente fue reconocido como tal por la comunidad científica.
Marco Antonio Zúñiga Montero
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Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Estado del programa de diagnóstico prenatal citogenético

Revista de Ciencias Médicas de Pinar del Río, 2015
Introducción: las alteraciones cromosómicas son cambios que afectan el número y la estructura de los cromosomas. El riesgo de padecer una enfermedad genética cromosómica aumenta con el incremento de la edad materna.
Irenia Blanco Pérez, Sahily Miñoso Pérez, Caridad Barroso Gazquez, Ada Socarras Gámez, Elena Cué Perdomo   +4 more
doaj  

Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010

Medisur, 2012
Fundamento: el diagnóstico prenatal citogenético en la actualidad forma parte de la atención que se brinda en el mundo desarrollado a la embarazada de alto riesgo y es un componente indispensable de los programas preventivos de genética que impulsa la ...
Pedro Alí Díaz-Véliz Jiménez, Yamelis Garrido Martínez, Aime Guerra Jorge, Belkis Vidal Hernández   +3 more
doaj   +2 more sources

Phenotype and Genotype of Portuguese Patients with Smith-Lemli-Opitz Syndrome [PDF]

, 2012
A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários ...
Bandeira, A, Cardoso, ML, Ferreira, I, Gaspar, A, Janeiro, P, Lopes, A, Lourenço, T, Marques, F, Martins, E, Nunes, L, Quelhas, D, Rodrigues, M, Rodrigues, R, Sales Marques, J, Sequeira, S, Soares, G, Venâncio, M   +16 more
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The emerging role of CAMK1D in diabetes, metabolism and feeding behaviours: A mechanistic systematic review

Clinical and Translational Discovery, Volume 6, Issue 1, February 2026.
This systematic review synthesizes evidence from published studies, GWAS and grey literature (patents) to show that CAMK1D is implicated in diabetes, obesity, insulin resistance and altered feeding behaviours, with diagnostic potential and mechanistic relevance through regulatory binding and tissue‐specific effects.
Livio Tarchi, Annalisa Di Giacomo, Lorenzo Bonacchi, Andrea Di Santo, Paolo Rovero, Chiara Sassoli, Rachele Garella, Roberta Squecco, Gianluca Villa, Romina Nassini, Francesco De Logu, Tiziana Pisano, Valdo Ricca, Giovanni Castellini   +13 more
wiley   +1 more source

Detection of chromosomal translocations by cytogenetic diagnosis. Cienfuegos, 2006-2016

Medisur, 2018
Background: Chromosomal abnormalities frequently cause pregnancy losses and infertility, and they are an important cause of mental retardation. Early diagnosis allows extending the study to the families of these translocations carriers.Objective: to ...
Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Alicia Pérez Pérez, Teresa Velázquez Martínez   +3 more
doaj   +2 more sources