Results 31 to 40 of about 104,371 (225)
ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
Veterinary Dermatology, EarlyView.ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
wiley +1 more source
Revista Médica Clínica Las Condes, 2015 En la actualidad se conocen 8.000 enfermedades genéticas monogénicas. La mayoría de ellas son heterogéneas, por lo que el diagnóstico molecular por técnicas convencionales de secuenciación suele ser largo y costoso debido al gran número de genes ...
Sonia Santillán-Garzón Md., PhD +20 more
doaj +1 more source
Manipulación genética de seres humanos
ARS Medica, 2006 El gran avance que ha tenido la Genética en los últimos años y, particularmente, aquello relacionado con el desciframiento del genoma humano, ha traído a la discusión pública la posibilidad concreta de manipular genéticamente a los seres humanos.
Manuel Santos Alcántara
doaj +1 more source
Integrating polygenic and methylation risk scores for pleural mesothelioma risk stratification
International Journal of Cancer, Volume 158, Issue 11, Page 2866-2879, 1 June 2026.What's new? Asbestos exposure is a major risk factor for pleural mesothelioma (PM). Most asbestos‐exposed individuals do not develop PM, suggesting that it arises from a complex interplay between environmental and genetic factors. This study examined the utility of polygenic risk scores (PRS) and methylation risk scores (MRS) in incorporating genetic ...
Khadija Sana Hafeez +26 more
wiley +1 more source
, 2001 El genoma es la tabla periódica de la biología sobre la cual vamos a conocer cómo funcionamos, qué riesgos tenemos para desarrollar enfermedades y cómo desarrollar las herramientas terapéuticas para combatirlas. Tal como expone el autor en este artículo,
Estivill, Xavier
core
Sequencing the potato genome: outline and first results to come from the elucidation of the sequence of the world's third most important food crop [PDF]
Potato is a member of the Solanaceae, a plant family that includes several other economically important species, such as tomato, eggplant, petunia, tobacco and pepper.
Bachem, C.W.B. +15 more
core +2 more sources
Ecology and Evolution, Volume 16, Issue 5, May 2026.We documented genetic variation, population structure, and bottleneck signals in Geoffroea decorticans (Fabaceae) populations across the Atacama Desert and emphasize the urgency of genetic monitoring. Conservation plans should prioritize populations based on genetic information including those with low diversity, strong bottleneck signals and high ...
Roberto Contreras +2 more
wiley +1 more source
, 2014 Lección inaugural del Curso Académico 2014/2015 en las Universidades Públicas de la Región de Murcia, a cargo del catedrático Francisco José Murillo Araujo.
openaire +2 more sources
Evolutionary mobility and genetic dynamics of MORFFO genes: shuttling among ancient plant lineages
New Phytologist, Volume 250, Issue 2, Page 1248-1264, April 2026.Summary Plastid genomes (plastomes) of land plants are characterized by their architectural and genic content stability. However, fern plastomes exhibit unexpected dynamism, characterized by the presence of mobile protein‐coding genes (CDS) – Mobile Open Reading Frames in Fern Organelles (MORFFOs). We investigate the evolutionary dynamics of MORFFOs in
Paulo H. Labiak +3 more
wiley +1 more source