Results 151 to 160 of about 920,848 (226)

HFE Gene Mutations Among β-Thalassemia Intermediate and β-Thalassemia Minor Individuals in Gaza Strip, Palestine

, 2009
Background: Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism caused by mutations in the HFE gene. Objectives: The aim of this study was to determine the occurrence of C282Y and H63D mutations among β–thalassemia ...
Abed, Abdalla, Harara, Zayed, Sharif, Fadel A.   +2 more
core  

Application of third-generation sequencing technology in the genetic testing of thalassemia

Molecular Cytogenetics
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
Weihao Li, Yanchou Ye
doaj   +1 more source

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

Clinical 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, Addison Pritchett, Jennifer Goldman   +2 more
wiley   +1 more source

HUBUNGAN POLIMORFISME GEN GLOBIN β DENGAN DERAJAT KEPARAHAN MANIFESTASI KLINIS THALASSEMIA β PADA SUKU MELAYU RIAU [PDF]

, 2017
Thallassemia β merupakan suatu kelainan genetik pada sel darah merah dimana tidak diproduksinya rantai globin β yang mengakibatkan berkurangnya jumlah sel darah merah sehingga terjadi anemia. Thalassemia merupakan penyakit autosomal resesif.
Elmi, Elmi
core  

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

The 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, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source

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

Journal 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, Andrea Mattioli, Carolina Prussia   +2 more
wiley   +1 more source

Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos. [PDF]

Acta Med Philipp
Silao CLT, Manuel MCC, Davila RAE, Fabella TDF, Laude RP, Desengaño TGH, Estrada CAS, Barnuevo MM, Poblete JMS, Padilla CD, Naranjo MLT, Yuson ED.   +11 more
europepmc   +1 more source

Use of romosozumab for osteoporosis in β-thalassemia major. [PDF]

JBMR Plus
Ng C, Samad N, Trinh A, Milat F, Wong P.
europepmc   +1 more source

New Gene Therapy Strategy for β-Thalassemia. [PDF]

Stem Cell Rev Rep
Liang D, Schmidt-Wolf IGH, Pu J.
europepmc   +1 more source

Splenectomy in β-thalassemia patients: Practices and risks in a nationwide study. [PDF]

Hemasphere
Benoit A, Pages J, Szepetowski S, Agouti I, Thuret I, Le Roux E, Badens C, Brousse V, NaThalY Network, Mathey C, Bey L, Lucchini MJ, Li Thio Te V, Garidi R, Garcon L, Orvain C, Brasme JF, Reynes C, Belloy M, Durin J, Alhindy O, Sabbagh L, Slama B, Sanchez A, Moulin A, Belgodere D, Benjemia L, Simon P, Oziol E, Aladjidi N, Huguenin Y, Jubert C, Forcade E, Duffau P, Maakaroun A, Lachenal F, Pegon C, Odievre MH, Petitdidier C, Atmani S, Raqbi F, Pondarre C, Youn J, Kamdem A, Bachir D, Bartolucci P, De Luna G, Habibi A, Fois E, Leblanc A, Dides PY, Makowski C, Armari C, Elenga N, Chantalat-Auger C, Driss F, Zenchri F, Guitton C, Jehanne M, Stoven C, Chaminade A, Gourdon S, Reguerre Y, Randriamalala E, Paumier-Bonjour V, Besancon-Bergelin A, Lambilliotte A, Bruno B, Gonzales F, Barbati M, Carpentier B, Piguet C, Touati M, Hot A, Barraco F, Cannas G, Virot E, Fort R, Ducoux G, Clavel HD, Kebaili K, Garnier N, Renard C, Bertrand Y, Peugnet AL, Halfon-Domenech C, Diakiesse J, Agbo-Kpati KP, Ravet N, Thuret I, Szepetowski S, Jean E, De Sainte Marie B, Meunier B, Faucher B, Muszlak M, Chamouine A, Garou A, Masserot-Lureau C, Schneider JM, Dorvaux V, Carassou P, Andriamihaja H, Lalande M, Mahe P, Sirvent A, Martinez PA, Bertchansky I, Eisenmann JC, Masseau A, Couec ML, Rialland F, Rohrlich PS, Baron-Joly S, Conde M, Dossier A, Brousse V, Yakouben K, Benkerrou M, Ithier G, Missud F, Dalle JH, Koehl B, Holvoet L, Ribeil JA, Joseph L, Cavazzana M, De Montalembert M, Neven B, Moshous D, Taylor M, Allali S, Varet B, Socie G, Xhaard A, De La Tour RP, Leblanc T, Boissel N, Robin M, Dhedin N, Girot R, Mattioni S, Lionnet F, Donadieu J, Leverger G, Fasola S, Arlet JB, Manoli C, Etienne-Julan M, Bernit E, Gellen-Dautremer J, Eyssette S, Blondin G, Pluchart C, Nimubona S, Bonneau J, Bayart S, Pertuisel S, Collet B, Detourmignies L, Machin J, Wemeau M, De Tourmigni L, Vannier JP, Filhon B, Dumesnil C, Lahary A, Schneider P, Ngo S, Malric A, Schoeny M, Berger C, Guichard I, Desbree A, Stephan JL, David A, Paillard C, Salmon A, Ame S, Gestas P, Besnard M, Castex MP, Plat-Wilson G, Cougoul P, Pasquet M, Serre J, Yvert M, Valentin JB, Duchene F, Mathieu S, Drouilly M, Detrait M, Pochon C, Phulpin A, Nathanson S.   +194 more
europepmc   +1 more source