Results 131 to 140 of about 965,280 (210)

Co-inheritance of SCA and α-thalassemia and hematological indices.

open access: yes, 2014
Co-inheritance of SCA and α-thalassemia and hematological indices.
Jeanne Ngogang (542273)   +6 more
core   +1 more source

Posaconazole Target Attainment in Critically Ill Children: A 15‐Year Single‐Center Retrospective Analysis

open access: yesClinical and Translational Science, Volume 19, Issue 9, September 2026.
ABSTRACT Posaconazole is a triazole antifungal agent used for prophylaxis and treatment of invasive fungal diseases. Posaconazole has high inter‐individual variability in dose‐exposure relationship and benefits from therapeutic drug monitoring (TDM). Adult studies report particularly high rates of subtherapeutic exposure among intensive care unit (ICU)
Kathryn Pavia   +2 more
wiley   +1 more source

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

open access: yesThe FEBS Journal, Volume 293, Issue 17, Page 5149-5169, September 2026.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo   +6 more
wiley   +1 more source

A novel α 0-thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

open access: yes, 2012
Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait. Methods: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing,
Phylipsen, M.   +10 more
core   +1 more source

Classification of α-thalassemia data using machine learning models [PDF]

open access: yes
Background: Around 7% of the global population has congenital hemoglobin disorders, with over 300,000 new cases of α-thalassemia annually. Diagnosis is costly and inaccurate in low-income regions, often relying on complete blood count (CBC) tests.
Kılıç, Deniz Kenan   +14 more
core   +1 more source

Polynucleotides HPT‐Based Dermal Filler for Skin Rejuvenation: A Prospective Clinical Investigation

open access: yesJournal of Cosmetic Dermatology, Volume 25, Issue 9, September 2026.
ABSTRACT Background Polynucleotides (PN)‐based dermal fillers are increasingly used for skin rejuvenation due to their biocompatibility and regenerative properties. Aims This study aimed to confirm the efficacy and safety of Plinest (Mastelli) in improving skin hydration of the face, neck, and décolleté over 4 months follow‐up.
Chiara Teramo   +2 more
wiley   +1 more source

β-Thalassemia

open access: yes, 2017
β-Thalassemia is caused by reduced (β +) or absent (β 0) synthesis of the β-globin chains of hemoglobin. Three clinical and hematological conditions of increasing severity are recognized: the β-thalassemia carrier state, thalassemia intermedia, and ...
ORIGA, RAFFAELLA, Raffaella Origa
core   +1 more source

Molecular and hematological characterization of thalassemia and hemoglobinopathies among pediatric patients in northern Lao People’s Democratic Republic

open access: yesScientific Reports
Thalassemia and hemoglobinopathies are highly prevalent in the Lao People’s Democratic Republic (Lao PDR). Luang Prabang Province represents an ethnically diverse area with a high burden of pediatric anemia, but the molecular and hematological ...
Volapheth Kanyasone   +12 more
doaj   +1 more source

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq

open access: yesHematology
Background Thalassemias are genetic disorders of globin chain synthesis. In Iraq, β-thalassemia is more prevalent than α-thalassemia. This study identifies two unpredicted globin gene mutations, a rare α-globin gene mutation (Hb SKMC) and a novel γδβ ...
Rawand P. Shamoon   +6 more
doaj   +1 more source

Diagnosis of α-thalassemia using droplet digital PCR

open access: yes
Most α-thalassemia occurs due to a large deletion in the α-globin gene. Common α-thalassemia with known mutations, such as Southeast Asian (SEA) type is readily diagnosed by Gap-PCR.
Mori, Kentaro   +9 more
core  

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