Results 61 to 70 of about 5,305 (221)

Neuroibromatosis tipo l: relación genotipo-fenotipo

Acta Neurológica Colombiana, 2020
INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas. El objetivo es describir actualmente si existe o no relación entre las mutaciones encontradas en los pacientes con neurofibromatosis tipo 1 y las características clínicas
Gómez-López, Mariana Teresa, Botero-Meneses, Juan Sebastián, Tierradentro-García, Luis Octavio, Vélez-van-Meerbeke, Alberto   +3 more
openaire   +3 more sources

Potential Adaptive Introgression From Dogs in Iberian Grey Wolves (Canis lupus)

Molecular Ecology, Volume 34, Issue 12, June 2025.
ABSTRACT Invading species along with increased anthropogenization may lead to hybridization events between wild species and closely related domesticates. As a consequence, wild species may carry introgressed alleles from domestic species, which is generally assumed to yield adverse effects in wild populations.
Carlos Sarabia, Isabel Salado, Alberto Fernández‐Gil, Bridgett M. vonHoldt, Michael Hofreiter, Carles Vilà, Jennifer A. Leonard   +6 more
wiley   +1 more source

Profundizando en el conocimiento de los fenotipos del asma infantil [PDF]

, 2009
Conclusiones de los autores del estudio: se describen en el estudio seis fenotipos de asma infantil. Aquéllos que se encuentran relacionados con la atopia aparecen por encima de los 18 meses, por lo que parece existir un intervalo de tiempo en el que ...
González de Dios, Javier, Rivas Juesas, Cristina   +1 more
core  

El registro de CO2 transcutáneo contribuye a la subclasificación del síndrome de apneas del sueño.

Anales de la Facultad de Medicina
La hipercapnia resultante de apneas del sueño es una consecuencia fisiopatológica de relevancia, que puede provocar disfunciones cardíacas, circulatorias, neurológicas y renales.
Mariana Ksiazenicki, Ana Musetti, Florencia Artola, Fernanda Escuder, Lilian Chiappella, Gimena González, José Pedro Arcos, Gabriela Santa Marina, Lucía Morales, Rossana Frattini   +9 more
doaj   +1 more source

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
wiley   +1 more source

Plant functional traits and the entangled phenotype

Functional Ecology, Volume 39, Issue 5, Page 1144-1159, May 2025.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Integrated phenotypes consist of multiple traits with enough coordination within and across organs to result in viable individuals, which not only respond to the surrounding environment but also modify it in myriad ways.
Sandra Díaz
wiley   +1 more source

FENÓTIPOS SANGUÍNEOS RAROS E OS DESAFIOS PARA A HEMOTERAPIA

Hematology, Transfusion and Cell Therapy
Introdução: A identificação de fenótipos sanguíneos raros é crucial para garantir transfusões seguras e eficazes, especialmente em pacientes com necessidades transfusionais frequentes.
LR Oliveira, EAG Bezerra, EPD Santos, LF Teles, CO Matos, TB Mendes, JWB Sales, MAB Júnior   +7 more
doaj   +1 more source

Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs

Veterinary Dermatology, Volume 36, Issue 1, Page 64-73, February 2025.
Background – Alopecia associated with hair cycle arrest (HCA, Alopecia X) is well‐recognised in Pomeranian dogs. The authors are unaware of reports of hair fragility in affected dogs. Hypothesis/Objectives – Following the observation of frequent hair shaft abnormalities in alopecic Pomeranians, we hypothesised that hair fragility events would be more ...
Erin Brennan, Jonna Juhola, Ewan A. Ferguson, Anette Loeffler, Rosario Cerundolo, Anke Hendricks, Ross Bond   +6 more
wiley   +1 more source

Fenótipos corporais na adolescência e a maturação sexual

Cadernos de Saúde Pública, 2018
Nosso objetivo é descrever fenótipos corporais estimados por técnica multivariada para avaliação do estado nutricional na adolescência, durante o processo de maturação sexual.
Jéssica Cumpian-Silva, Ana Elisa Madalena Rinaldi, Camila Medeiros da Silva Mazzeti, Wolney Lisboa Conde   +3 more
doaj   +1 more source

The genomics and physiology of abiotic stressors associated with global elevational gradients in Arabidopsis thaliana

New Phytologist, Volume 244, Issue 5, Page 2062-2077, December 2024.
Summary Phenotypic and genomic diversity in Arabidopsis thaliana may be associated with adaptation along its wide elevational range, but it is unclear whether elevational clines are consistent among different mountain ranges. We took a multi‐regional view of selection associated with elevation.
Diana Gamba, Claire M. Lorts, Asnake Haile, Seema Sahay, Lua Lopez, Tian Xia, Margarita Takou, Evelyn Kulesza, Dinakaran Elango, Jeffrey Kerby, Mistire Yifru, Collins E. Bulafu, Tigist Wondimu, Katarzyna Glowacka, Jesse R. Lasky   +14 more
wiley   +1 more source