Results 61 to 70 of about 7,265 (207)

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis

Revista Brasileira de Hematologia e Hemoterapia, 2015
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab ...
Lidiane de Souza Torres, Jéssika Viviani Okumura, Danilo Grünig Humberto da Silva, Claudia Regina Bonini-Domingos   +3 more
doaj   +1 more source

A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. [PDF]

, 2015
Cystic Fibrosis (CF) is a monogenic disease caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic ...
Amato, Annalisa, Bertasi, Serenella, Bruno, SABINA MARIA, Cimino, G., Ferraguti, Giampiero, Lucarelli, Marco, Narzi, Fabiana, Pierandrei, Silvia, Quattrucci, Serena, Stamato, Antonella, Strom, Roberto   +10 more
core   +1 more source

Pharmacogenomics in clinical practice: Biomarker information in Brazilian drug labels

British Journal of Clinical Pharmacology, Volume 92, Issue 1, Page 109-118, January 2026.
This review examines the PGx annotations in package inserts (bulas in Brazilian Portuguese) approved by ANVISA, the Brazilian Health Regulatory Agency, for 19 gene–drug pairs with strong or moderate recommendations for initial dosing alteration in the CPIC (Clinical Pharmacogenetic Implementation Consortion) guidelines and PGx testing required or ...
Guilherme Suarez‐Kurtz
wiley   +1 more source

Oral Signs and HLA-DQB1 1702 Haplotypes in the Celiac Paediatric Patient: A Preliminary Study. [PDF]

, 2013
Celiac disease (CD) diagnosis can be extremely challenging in the case of atypical patterns. In this context, oral signs seem to play a decisive role in arousing suspicion of these forms of the disease.
C. Montaldo, F. Novara, F.M.G. Pili, G. Orr\uf9, G.M. Abbate, L. Levrini, M. Erriu, V. Piras   +7 more
core   +2 more sources

Genomic Differentiation, Diversity, and Genetic Structuring of Euterpe edulis Mart. Morphotype in Espírito Santo, Brazil

Ecology and Evolution, Volume 16, Issue 1, January 2026.
This study investigates genomic differences among distinct morphotypes of Euterpe edulis in Espírito Santo (ES), Brazil, using a dataset of 5319 high‐quality SNPs. ABSTRACT The genomic knowledge of Euterpe edulis populations with morphological and genetic variations is relevant to species preservation, management, conservation, and improvement.
Jônatas Gomes Santos, Francine Alves Nogueira de Almeida, Hélio de Queiroz Boudet‐Fernandes, Pedro Henrique Dias dos Santos, Miquéias Fernandes, Suelane Costa dos Santos, Adésio Ferreira, Marcia Flores da Silva Ferreira   +7 more
wiley   +1 more source

Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome [PDF]

, 2014
Wolfram Syndrome (WS) is a rare hereditary disease with autosomal recessive inheritance with incomplete penetrance. It is characterized by diabetes mellitus associated with progressive optic atrophy.
ARANCIO, Walter, BAIAMONTE, Concetta, CIRESI, Alessandro, COPPOLA, Antonina, GIORDANO, Carla, Lorini, R, PITRONE, Maria, PIZZOLANTI, Giuseppe, TOMASELLO, Laura   +8 more
core   +1 more source

New Mechanisms of Resistance to CAA and OSBPI Fungicides in Phytophthora infestans

Plant Pathology, Volume 75, Issue 1, January/February 2026.
This study presents the first report of the mechanism behind mandipropamid resistance in Phytophthora infestans, the newly discovered presence of combined resistance to CAAs and OXTP in potato fields and recommendations for revised fungicide management strategies for potato late blight control. ABSTRACT Field observations from Denmark in 2021 suggested
Stefano F. F. Torriani, Maya Waldner‐Zulauf, Jürg Wullschleger, Luca Cornetti, Mathias Blum, Marine Blondel, Myriam Van Hecke, Stefan Dragos, Lorenzo Borghi   +8 more
wiley   +1 more source

Restricted gene flow and genetic drift in recently fragmented populations of an endangered steppe bird [PDF]

, 2012
Identifying the genetic processes derived from habitat fragmentation is critical for the conservation of endangered species. We conducted an integrated analysis of genetic patterns in the endangered Dupont’s lark (Chersophilus duponti), a circum ...
Godoy, José A., Méndez, María, Tella, José Luis   +2 more
core   +1 more source

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Arquivos de Neuro-Psiquiatria
Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu.
Jerusa Smid, Adalberto Studart Neto, Michele Christine Landemberger, Cleiton Fagundes Machado, Paulo Ribeiro Nóbrega, Nathalie Henriques Silva Canedo, Rodrigo Rizek Schultz, Michel Satya Naslavsky, Sérgio Rosemberg, Fernando Kok, Leila Chimelli, Vilma Regina Martins, Ricardo Nitrini   +12 more
doaj   +1 more source

Variabilidade genética de raças de ovelhas deslanadas do Brasil [PDF]

, 2005
: The objectives of this work were to investigate the genetic structure of the Brazilian hair sheep breeds and to determine the origin of the Santa Inês breed.
Albuquerque, Maria do Socorro Maués, Castro, Sílvia Ribeiro, Dergam, Jorge Abdala, Egito, Andréa Alves do, Faria, Danielle Assis de, Mariante, Arthur da Silva, Paiva, Samuel Rezende, Pimentel, Concepta Margaret McManus, Silvério, Vanessa Chaves   +8 more
core   +3 more sources