Results 31 to 40 of about 4,430 (135)

TNF‑α Gene Polymorphisms as Determinants of Alloantibody Emergence in Hemophilia: A Systematic Review and Meta‐Analysis

Haemophilia, EarlyView.
ABSTRACT Introduction Inhibitor development remains one of the most serious complications of replacement therapy in patients with hemophilia. Tumour necrosis factor‐alpha (TNF‐α) is a key pro‐inflammatory cytokine, and its genetic variants have been implicated in immune‐related conditions.
Alessandra Faustino da Conceição Bezerra, Natã Abner Andrade Carito de Sousa, Suely Meireles Rezende, Renan Pedra de Souza   +3 more
wiley   +1 more source

Transformação dos linfócitos induzida pela fitohemaglutinina e reação de Mitsuda

Hansenologia Internationalis, 1977
A taxa de transformação blástica dos linfócitos induzida pela fitohemaglutinina, bem como os níveis de globulinas séricas foram investigados em soldados brasileiros caucasóides que apresentavam reação tardia à lepromina (reação de Mitsuda) fortemente ...
J. A. VOZZA, B. BEIGUELMAN, R. C. B. PISANI, P. C. CEZAR   +3 more
doaj   +1 more source

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, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Paciente con insuficiencia suprarrenal por mutación de novo en el gen NR0B1

Advances in Laboratory Medicine, 2023
La hipoplasia suprarrenal congénita ligada al cromosoma X es una enfermedad rara con base genética conocida, que se presenta con insuficiencia suprarrenal e hipogonadismo hipogonadotrófico y expresión clínica variable.
Bravo Nieto Daniel, García Fernández Alba S., Diaz Troyano Noelia, Giralt Arnaiz Marina, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María   +8 more
doaj   +1 more source

Alterações genéticas no cancro do pulmão: Avaliação das limitações ao seu uso na rotina clínica

Revista Portuguesa de Pneumologia, 2007
Resumo: O cancro do pulmão é a causa mais frequente de mortalidade por cancro no mundo, sendo responsável por cerca de 1,1 milhões de mortes por ano. A sobrevivência média dos doentes é geralmente curta, por a doença se encontrar em estádios avançados na altura do diagnóstico, mas também devido à falta de eficácia dos tratamentos disponà ...
Joana Espiga Macedo, Ãngela M.S. Costa, Inês A.M. Barbosa, Sandra Rebelo, Conceição Souto de Moura, Luís Teixeira da Costa, Venceslau Hespanhol   +6 more
openaire   +1 more source

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

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister‐Hall Syndrome: A Clinical Report

Molecular Genetics & Genomic Medicine
Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Sebastián Bonilla‐Navarrete, Luis Eduardo Prieto, Laura Valentina Carvajal, Jorge Andrés Olave‐Rodríguez, Lisa Ximena Rodriguez‐Rojas, Jose Antonio Nastasi‐Catanese   +5 more
doaj   +1 more source

Facial Emotion Recognition in Children With Narcolepsy Type 1

Journal of Sleep Research, Volume 35, Issue 2, April 2026.
ABSTRACT Narcolepsy type 1 is a neurological disorder typically emerging in childhood or adolescence, characterised by excessive daytime sleepiness, cataplexy and rapid eye movement sleep‐related symptoms. Beyond its core features, increasing evidence suggests an impact on socio‐cognitive development, including difficulties in understanding others ...
Marco Veneruso, Paola Del Sette, Ramona Cordani, Antonella Barbieri, Lorenzo Chiarella, Serena Lecce, Cristina Venturino, Salvatore Lo Cascio, Francesco Biscarini, Fabio Pizza, Lino Nobili, Giuseppe Plazzi   +11 more
wiley   +1 more source

Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com possível variante do fenômeno da antecipação

Arquivos de Neuro-Psiquiatria, 1977
Considerando-se a peculiaridade genética da atrofia peroneal de Charcot-Marie-Tooth, é feita a descrição clínica de família com três irmãos afetados, com idade de aparecimento progressivamente antecipada, refletindo possível variante do fenômeno da ...
Aguinaldo Gonçalves, Jeová Barros da Silva   +1 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source