(Q73179892)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074535%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074535%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

V Oron-Karni

1

1 reference

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1 November 2019

D Filon

2

1 reference

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1 November 2019

Y Shifrin

3

1 reference

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1 November 2019

E Fried

4

1 reference

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1 November 2019

G Pogrebijsky

5

1 reference

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1 November 2019

A Oppenheim

6

1 reference

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1 November 2019

D Rund

7

1 reference

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1 November 2019

publication date

1 November 2000

1 reference

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American Journal of Hematology

1 November 2019

published in

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1 November 2019

volume

65

1 reference

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1 November 2019

issue

3

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1 November 2019

page(s)

196-203

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1 November 2019

1 reference

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The interaction of alpha thalassaemia with heterozygous beta thalassaemia

21 January 2018

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Silent carrier beta-thalassaemia due to a severe beta-globin mutation interacting with other genetic elements

21 January 2018

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Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia

21 January 2018

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Alpha-thalassemia genes in Israel: deletional and nondeletional mutations in patients of various origins

21 January 2018

1 reference

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alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence

21 January 2018

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A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease

21 January 2018

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Hb Shaare Zedek (alpha 56 E5 Lys leads to Glu)

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

21 January 2018

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DNA analysis in the diagnosis of hemoglobin disorders

21 January 2018

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Rapid detection of the common Mediterranean alpha-globin deletions/rearrangements using PCR.

21 January 2018

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Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms

21 January 2018

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Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA

21 January 2018

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alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations

21 January 2018

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The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints

21 January 2018

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The thalassemia repository (Ninth Edition; Part II)

21 January 2018

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Study of alpha-thalassemia in northeastern Thailand at the DNA level

21 January 2018

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HbH disease in Sardinia: molecular, hematological and clinical aspects

21 January 2018

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Characterization of nondeletion alpha-thalassemia mutations in the Greek population

21 January 2018

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Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization

21 January 2018

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alpha-Thalassaemia in the population of Cyprus

21 January 2018

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Molecular basis of alpha-thalassemia in Portugal

21 January 2018

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Molecular basis of alpha-thalassemia in Sicily

21 January 2018

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Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening

21 January 2018

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21 January 2018

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21 January 2018

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Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics

21 January 2018

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The duplicated human α-globin genes: Their relative expression as measured by RNA analysis

21 January 2018

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21 January 2018

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Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations

21 January 2018

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21 January 2018

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Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype

21 January 2018

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HB Taybe: description of genetics and laboratory findings in an Israeli Arab family

21 January 2018

1 reference

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Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia

21 January 2018

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Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients

21 January 2018

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Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly)

21 January 2018

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21 January 2018

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Sporadic alleles, including a novel mutation, characterize beta-thalassemia in Ashkenazi Jews

21 January 2018

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Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

21 January 2018

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Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

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21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074535%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference