Results 151 to 160 of about 34,320 (185)

Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China. [PDF]

Front Genet, 2023
Yuan Y, Zhou X, Deng J, Zhu Q, Peng Z, Chen L, Zou Y, Mao A, Meng W, Ma M, Wu H.   +10 more
europepmc   +1 more source

Combined heterozygosity for the highly unstable variant hemoglobin Taybe, and α-thalassemia as a rare cause of hemolytic anemia. [PDF]

Ann Hematol
Nagel SN, Brintrup J, Ghannam Y, Stallmach A, Hochhaus A, Ripoll C, Cario H, Schrenk KG.   +7 more
europepmc   +1 more source

Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia. [PDF]

Indian J Hematol Blood Transfus, 2022
Han J, Li J, Li DZ.
europepmc   +1 more source

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing. [PDF]

Front Genet
Wu S, Feng Z, Jiang F, Zhao M, Jiang P, Xiao G, Zhang X.   +6 more
europepmc   +1 more source

Lentiviral vectors for hematopoietic stem cell gene therapy restore α-globin expression in α-thalassemia red blood cells. [PDF]

Cell Rep Med
Segura EER, Hart K, Campo Fernandez B, Brown D, Tam K, Gutierrez Garcia A, Seigneurbieux E, Li K, Mulumba C, Blakely E, Masiuk K, Sinha R, Sharma D, Everett J, Hogenauer M, Cromer MK, Bushman F, MacKenzie TC, Kohn DB.   +18 more
europepmc   +1 more source

Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study. [PDF]

Diagnostics (Basel), 2022
Siqueira PFR, Fleury MK, Pontes RM, Silva RSP, Costa ES, Land MGP.   +5 more
europepmc   +1 more source

A retinopathy in young patient with co-inheritance of heterozygous alpha + −thalassemia and sickle trait: a case report [PDF]

, 2017
Abdellah Dami, Aissam El Maataoui, Asmae Biaz, Fatiha Benchrifa, Nezha Messaoudi, Samira El Machtani, Sanae Bouhsain, Zeinab Traore, Zohra Ouzzif   +8 more
core   +1 more source

A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal). [PDF]

J Assist Reprod Genet
Shi Q, Xie T, Li J, Li N, Xu C, Lin Z, Huang Y, Zhou L, Mao A, Li J, Li R.   +10 more
europepmc   +1 more source

Erythrocyte Indices and Hemoglobin Analysis for α-Thalassemia Screening in an Area with High Carrying Rate. [PDF]

Indian J Hematol Blood Transfus, 2022
Zheng L, Huang H, Wu X, Shen Q, Chen M, Wang M, Su L, Xu L.   +7 more
europepmc   +1 more source

Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe. [PDF]

Ann Hematol
Schnedl WJ, Leixner G, Voill-Glaninger A, Michaelis S, Enko D, Mangge H.   +5 more
europepmc   +1 more source