|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.
|
22392582 |
2012 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India.
|
22239493 |
2012 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.
|
21797703 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala].
|
21523319 |
2011 |
|
Hemoglobinopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
Structure analysis was performed on the key mutations that occur in the native protein coded by the HBB gene that causes hemoglobinopathies such as: HbC (E→K), HbD (E→Q), HbE (E→K) and HbS (E→V).
|
22028795 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular lesion frequency of hemoglobin gene disorders in Taiwan.
|
21599435 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.
|
21389146 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
|
21423179 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Molecular basis of β-thalassemia in the United Arab Emirates.
|
22074124 |
2011 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hemoglobinopathies in North Africa: a review.
|
20113284 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major.
|
20132300 |
2010 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have confirmed the efficiency of this approach with the identification of beta-globin gene point mutation, which results in the reduced production of globin in an inherited hemoglobin disorder thalassemia disease.
|
20152403 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
|
20437613 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America.
|
20309827 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
|
20395516 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
|
20704537 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
|
19486366 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.
|
20524821 |
2010 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques.
|
19437135 |
2010 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
|
19254853 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes.
|
20008178 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.
|
19429541 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The newly described mechanisms including unstable hemoglobin disorders and somatic deletions in beta-globin gene are elaborated in the present review.
|
19941736 |
2009 |
|
Hemoglobinopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
|
21119755 |
2009 |
|
Hemoglobinopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.
|
19429541 |
2009 |