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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Nature genetics, 2010-09, Vol.42 (9), p.801-805

2010

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Erythroid phenotypes associated with KLF1 mutations

Haematologica (Roma), 2011-05, Vol.96 (5), p.635-638

2011

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Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts

Scientific reports, 2022-01, Vol.12 (1), p.336-336, Article 336

2022

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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

Human mutation, 2011-01, Vol.32 (1), p.2-9

2011

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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Nature genetics, 2011-04, Vol.43 (4), p.295-301

2011

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Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

BMC medical genetics, 2016-09, Vol.17 (1), p.65-65, Article 65

2016

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Molecular genetics of tetrahydrobiopterin (BH 4) deficiency in the Maltese population

Molecular genetics and metabolism, 2007-03, Vol.90 (3), p.277-283

2007

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Novel Polymorphisms Influencing Transcription of the Human CHRM2 Gene in Airway Smooth Muscle

American journal of respiratory cell and molecular biology, 2004-05, Vol.30 (5), p.678-686

2004

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Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Blood, 2016-04, Vol.127 (15), p.1856-1862

2016

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Hb Valletta [β87(F3)Thr→Pro] and Hb Marseille Long Island [β2(NA2)His→Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a Unique Compound Heterozygote with a Normal Hemoglobin Phenotype

Hemoglobin, 2010-04, Vol.34 (2), p.169-174

2010

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A Twenty-Five Year Prospective Clinical Review and Family Studies Revealed New Globin Gene Regulators for Hb F Induction

Hemoglobin, 2019-11, Vol.43 (6), p.337-337

2019

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Treatment of leg ulcers with platelet-derived wound healing factor (PDWHFS) in a patient with beta thalassaemia intermedia

British journal of haematology, 2001-02, Vol.112 (2), p.528-529

2001

Volltextzugriff (PDF)

A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials

Hemoglobin, 2007, Vol.31 (2), p.279-288

2007

Volltextzugriff (PDF)

Systematic documentation and analysis of human genetic variation using the microattribution approach

Nature genetics, 2011-03, Vol.43 (4)

2011

Volltextzugriff (PDF)

Haploinsufficiency for the erythroid transcription factor KLF 1 causes hereditary persistence of fetal hemoglobin

Nature genetics, 2010, Vol.42 (9), p.801-805

2010

Volltextzugriff (PDF)

Developmental Effect of the XmnI Site on Gγ-Globin Gene Expression Among Newborn Hb F-Malta-I [Gγ117(G19)His→Arg, CAT→CGT] Heterozygotes and Adult β+-Thalassemia Homozygotes

Hemoglobin, 2007-01, Vol.31 (1), p.71-82

2007

Volltextzugriff (PDF)

Developmental Effect of the XmnI Site on G -Globin Gene Expression Among Newborn Hb F-Malta-I [G 117(G19)His→Arg, CAT→CGT] Heterozygotes and Adult +-Thalassemia Homozygotes

Hemoglobin, 2007, Vol.31 (1), p.71-82

2007

Volltextzugriff (PDF)

Developmental Effect of the Xmn I Site on G γ-Globin Gene Expression Among Newborn Hb F-Malta-I [ G γ117(G19)His→Arg, C A T→C G T] Heterozygotes and Adult β + -Thalassemia Homozygotes

Hemoglobin, 2007-01, Vol.31 (1), p.71-82

2007

Volltextzugriff (PDF)

Developmental effect of the XmnI site on Ggamma-globin gene expression among newborn Hb F-Malta-I [Ggamma117(G19)His-->Arg, CAT-->CGT] heterozygotes and adult beta+ -Thalassemia homozygotes

Hemoglobin, 2007, Vol.31 (1), p.71-82

2007

Volltextzugriff (PDF)

Treatment of leg ulcers with platelet‐derived wound healing factor (pdwhfs) in a patient with beta thalassaemia intermedia

British journal of haematology, 2001-02, Vol.112 (2), p.527-529

2001

Volltextzugriff (PDF)

A Review of Cis-Trans Interplay Between DNA Sequences 5′ to the Gγ- and β-Globin Genes Among Hb F-Malta-I Heterozygotes Homozygotes and β-Thalassemia Homozygotes Compound Heterozygotes, and the Effects of Hydroxyurea on the Hb F F-Erythrocyte; the Need for Large Multicenter Trials

Hemoglobin, 2007, Vol.31 (2), p.279-288

2007

Volltextzugriff (PDF)

Two new missense mutations (P134T and A244V) in the coagulation factor VII gene

Human mutation, 1998, Vol.11 (S1), p.S189-S191

1998

Volltextzugriff (PDF)

Guardianship by Peer Review in Genetic Engineering and Biotechnology

Germ-Line Intervention and Our Responsibilities to Future Generations, p.117-129

Volltextzugriff (PDF)

The occurrence and identification of alpha-thalassemia-2 among hemoglobin S heterozygotes

American journal of clinical pathology, 1981-07, Vol.76 (1), p.70-73

1981

Volltextzugriff (PDF)

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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Erythroid phenotypes associated with KLF1 mutations

Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Molecular genetics of tetrahydrobiopterin (BH 4) deficiency in the Maltese population

Novel Polymorphisms Influencing Transcription of the Human CHRM2 Gene in Airway Smooth Muscle

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Hb Valletta [β87(F3)Thr→Pro] and Hb Marseille Long Island [β2(NA2)His→Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a Unique Compound Heterozygote with a Normal Hemoglobin Phenotype

An Electronic Infrastructure for Research and Treatment of the Thalassemias and Other Hemoglobinopathies: The Euro-Mediterranean Ithanet Project

A Twenty-Five Year Prospective Clinical Review and Family Studies Revealed New Globin Gene Regulators for Hb F Induction

Treatment of leg ulcers with platelet-derived wound healing factor (PDWHFS) in a patient with beta thalassaemia intermedia

A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials

Systematic documentation and analysis of human genetic variation using the microattribution approach

Haploinsufficiency for the erythroid transcription factor KLF 1 causes hereditary persistence of fetal hemoglobin

Developmental Effect of the XmnI Site on Gγ-Globin Gene Expression Among Newborn Hb F-Malta-I [Gγ117(G19)His→Arg, CAT→CGT] Heterozygotes and Adult β+-Thalassemia Homozygotes

Developmental Effect of the XmnI Site on G -Globin Gene Expression Among Newborn Hb F-Malta-I [G 117(G19)His→Arg, CAT→CGT] Heterozygotes and Adult +-Thalassemia Homozygotes

Developmental Effect of the Xmn I Site on G γ-Globin Gene Expression Among Newborn Hb F-Malta-I [ G γ117(G19)His→Arg, C A T→C G T] Heterozygotes and Adult β + -Thalassemia Homozygotes

Developmental effect of the XmnI site on Ggamma-globin gene expression among newborn Hb F-Malta-I [Ggamma117(G19)His-->Arg, CAT-->CGT] heterozygotes and adult beta+ -Thalassemia homozygotes

Treatment of leg ulcers with platelet‐derived wound healing factor (pdwhfs) in a patient with beta thalassaemia intermedia

A Review of Cis-Trans Interplay Between DNA Sequences 5′ to the Gγ- and β-Globin Genes Among Hb F-Malta-I Heterozygotes Homozygotes and β-Thalassemia Homozygotes Compound Heterozygotes, and the Effects of Hydroxyurea on the Hb F F-Erythrocyte; the Need for Large Multicenter Trials

Two new missense mutations (P134T and A244V) in the coagulation factor VII gene

Guardianship by Peer Review in Genetic Engineering and Biotechnology

The occurrence and identification of alpha-thalassemia-2 among hemoglobin S heterozygotes

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