Results 81 to 90 of about 94,653 (246)
Prenatal Diagnosis, EarlyView.ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
, 2013 RP-HPLC determination of γ-globin chain expression as a percentage of total human β-like globin chain expression in −566 Aγ-globin HPFH β-YAC transgenic mice.
Renee Y. Neades (292761) +4 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde +4 more
wiley +1 more source
, 2014 The murine β-globin locus is depicted with the β-globin genes represented by triangles and known or putative regulatory sequences, to which DNaseI HSs have been mapped, by vertical arrows.
George Fromm (561951) +6 more
core +1 more source
Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia [PDF]
, 2019 β-Thalassaemia is one of the most common monogenic diseases with no effective cure in the majority of patients. Unbalanced production of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β-thalassaemia ...
Gibbons, Richard +5 more
core +1 more source
Sickle Cell Disease: Historical Overview and Current Therapies
Prenatal Diagnosis, EarlyView.ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde +4 more
wiley +1 more source
Physical mapping of the globin gene deletion in (δβ)° - thalassaemia [PDF]
, 1979 We have constructed a physical map of restriction endonuclease cleavage sites in the (δ+β)-globin gene region in the DNA of patients with (δβ)°-thalassaemia.
Bernards, R.A. +2 more
core
Molecular cloning of human epsilon-globin gene.
, 1979 Human beta-like globin genes were investigated by use of rabbit beta-globin cDNA plasmid as a cross-species hybridization probe. Normal and beta 0/delta beta 0 thalassemic DNA were compared by filter hybridization procedures.
Proudfoot, Nicholas, Baralle, FE
core +1 more source
Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality
Prenatal Diagnosis, EarlyView.ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou +7 more
wiley +1 more source
, 2004 The structure, function, and evolutionary history of globin genes have been the subject of extensive investigation over a period of more than 40 years, yet new globin genes with highly specialized functions are still being discovered and much remains ...
Hope, R. +4 more
core +1 more source