Results 41 to 50 of about 128,358 (156)

Resultados en el diagnóstico prenatal citogenético en Pinar del Río

Revista de Ciencias Médicas de Pinar del Río, 2013
Introducción: el Diagnóstico Prenatal Citogenético utilizando las células del líquido amniótico, constituye, la principal modalidad en Cuba para realizar los estudios cromosómicos prenatales en aquellas embarazadas con riesgos de tener un niño afectado ...
Irenia Blanco Pérez, María del Carmen Mitjáns Torres, Sahily Miñoso Pérez, Caridad Barroso Gázquez, Ada Socarrás Gámez   +4 more
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Diagnóstico prenatal de atresia duodenal en feto con Síndrome Down. A propósito de un caso

Medisur, 2020
La atresia duodenal (AD) es una patología congénita infrecuente . Es el resultado de una falla en la recanalización del duodeno y se puede encontrar asociada a cromosomopatías como el Síndrome Down en el 30% de los casos.
Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Iliana González Santana, Doris Portero Cabrera, Leydi María Sosa Águila   +4 more
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Alteraciones cromosómicas diagnosticadas en sangre periférica

Revista de Ciencias Médicas de Pinar del Río, 2013
Introducción: el estudio citogenético en linfocitos de sangre periférica es un medio diagnóstico muy solicitado por diferentes especialidades médicas, es utilizado ampliamente para diagnosticar diferentes cromosomopatías de origen genético.
Irenia Blanco Pérez, María del Carmen Mitjans Torres, Sahily Miñoso Pérez, Ada Socarrás Gómez   +3 more
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Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

La interacción del genoma y el ambiente en la hipertensión arterial

Revista de Ciencias Médicas de Pinar del Río, 2015
Introducción: la hipertensión arterial tiene un origen multifactorial en el que los factores genéticos y ambientales juegan un papel importante, y constituye uno de los problemas médicos-sanitarios más importantes de la medicina contemporánea.
Lourdes María Moreno Plasencia, Roberto Lardoeyt Ferrer, María Beatriz Iglesias Rojas, Jorge Padilla Preval   +3 more
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La higiene racial explicada a los chilenos: las conferencias de Otto Aichel (1927) y Erwin Baur (1930) en Santiago de Chile [PDF]

, 2019
This work deals with a particular moment of the transcontinental journey of ideas of German racial hygiene towards the Chilean context through the lectures by Otto Aichel -director of the Museum of Anthropology at the University of Kiel_ and Erwin Baur ...
Sánchez Delgado, Marcelo
core   +1 more source

Genetic Ancestry Reveals Historical Diversity of Formation Across Three Brazilian Communities of African Descent (Quilombos) in Central Brazil

American Journal of Human Biology, Volume 38, Issue 1, January 2026.
ABSTRACT Introduction Characterized as relatively isolated communities, many Brazilian quilombos were formed during the period of slavery in Brazil when enslaved persons (most of African descent) ran away or were abandoned by their enslavers. Quilombos in Central Brazil, whose settlement was more recent due to the relative isolation of the region ...
Sabrina Guimarães Paiva, Anna C. Rivara, Matheus de Castro Nóbrega, Rafaela de Cesare Parmezan Toledo, Maria de Nazaré Klautau‐Guimarães, Sidney Emanuel Batista dos Santos, Lorena Madrigal, Silviene Fabiana de Oliveira   +7 more
wiley   +1 more source

Genética clínica: investigação dos padrões de herdabilidade de doenças humanas - mutações genéticas e cromossômicas [PDF]

, 2016
Anais do V Encontro de Iniciação Científica e I Encontro Anual de Iniciação ao Desenvolvimento Tecnológico e Inovação – EICTI 2016 - 05 e 07 de outubro de 2016 – Sessão Ciências BiológicasNa América-Latina, as doenças genéticas estão entre as principais
Terencio, Maria Leandra, Zanella, Jordana   +1 more
core  

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Food consumption and dietary and toxic habits in pregnant women of Villa Clara Province

Acta Médica del Centro, 2020
Introduction: advances in the knowledge of Epigenetics and its relationship with morbidity in adulthood emphasize more strongly the impact that a woman's diet has during pregnancy.
Ismary Oliva Machado, Yenny González Díaz, Beatriz Marcheco Teruel, Deinys Carmenate Naranjo, María Elena de la Torre Santos   +4 more
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