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Results 21 to 30 of about 5,511 (109)

Validación de un inmunoensayo tipo ELISA para la cuantificación de los niveles séricos de antígeno de superficie en pacientes con infección crónica por virus de la hepatitis B.

Revista Biomédica, 2017
Introducción: Durante la etapa aguda de la infección por el virus de la hepatitis B y el período inicial de una infección crónica, el DNA está en forma episomal (libre o extracromosomal) y replica en el hepatocito produciendo entre otros viriones ...
Cira V. Rodríguez-Pelier +6 more
doaj +1 more source

DNA barcoding for identification of species involved in wildlife strikes at Brazilian airports

The Journal of Wildlife Management, Volume 90, Issue 6, August 2026.
A collaborative network of 42 Brazilian airports applied DNA barcoding to identify 80 species involved in wildlife strikes. Among them, 32 species (17 birds and 15 bats) were not currently available in Brazil's wildlife strike reporting database, underscoring the value of molecular tools for strengthening wildlife strike monitoring. Abstract This study
Andre Akira Gonzaga Yoshikawa +11 more
wiley +1 more source

Un cariotipo anormal: 45, XX t (13q; 14q) 5p+++

Revista de Ciencias Médicas de Pinar del Río, 2015
El cariotipo realizado a una paciente del sexo femenino de 8 años de edad, que estaba siendo estudiada por discapacidad intelectual moderada, dismorfias faciales y en las extremidades, reveló el siguiente resultado: 45, XX t (13q; 14q) 5p+++.
Elayne Santana Hernández +4 more
doaj

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria

Allergy, Volume 81, Issue 8, Page 2582-2632, August 2026.
ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
Torsten Zuberbier +221 more
wiley +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, Volume 110, Issue 2, Page 172-188, August 2026.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista +31 more
wiley +1 more source

Prognostic Impact of Concomitant Genomic Alterations in FGFR2‐Positive Cholangiocarcinoma Treated With Pemigatinib

Liver International, Volume 46, Issue 8, August 2026.
ABSTRACT Background & Aims Anti‐FGFR therapies changed the treatment landscape for patients with previously treated, advanced, or metastatic cholangiocarcinoma (CCA) harbouring FGFR2 fusions/rearrangements. However, primary resistance to FGFR inhibitors remains a key challenge. In the present real‐world study, we aimed to evaluate the prognostic impact
Carolina Liguori +45 more
wiley +1 more source

Resultados de seis años de estudios citogenéticos en líquido amniótico

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: la pesquisa de diversas enfermedades genéticas es uno de los programas preventivos con actual importancia a nivel de la salud pública. La detección precoz de cromosomopatías y la toma de conducta oportuna disminuyen la morbimortalidad y ...
Enelis Reyes Reyes +4 more
doaj

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source

Colocalization of Dopamine D1 and D2 Receptors With Neuronal Nitric Oxide Synthase in the Rat Paraventricular Nucleus: A Structural Basis for Dopaminergic–Nitrergic Interaction

Anatomia, Histologia, Embryologia, Volume 55, Issue 4, July 2026.
ABSTRACT The paraventricular nucleus (PVN) plays a central role in neuroendocrine and autonomic regulation, including male sexual behaviour. Dopaminergic and nitrergic signalling within the PVN are functionally linked, but their cellular relationship remains unclear.
Aixa R. Bello, Manuel Mas, Ricardo Reyes
wiley +1 more source

Epidemiologia da paralisia cerebral no Brasil pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page e89-e103, July 2026.
Resumo Objetivo Estabelecer uma descrição geral das pessoas com paralisia cerebral (PC) no Brasil, incluindo a epidemiologia, características clínicas, funcionalidade e acesso à reabilitação e equipamentos, pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), utilizando dados preliminares do Registro Brasileiro
Hércules Ribeiro Leite +10 more
wiley +1 more source

diagnóstico prenatal
diagnóstico
aberraciones cromosómicas

hemoglobinopatías
electroforesis
análisis citogenético

translocación genética
hemiatrofia facial progresiva