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Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

Human molecular genetics, 2007-12, Vol.16 (23), p.2795-2804

2007

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DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Proceedings of the National Academy of Sciences - PNAS, 2008-08, Vol.105 (33), p.11869-11874

2008

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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

PLoS genetics, 2007-07, Vol.3 (7), p.e115-e115

2007

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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (5), p.1620-1625

2008

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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

Haematologica (Roma), 2008-10, Vol.93 (10), p.1473-1479

2008

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Heritability of cardiovascular and personality traits in 6,148 Sardinians

PLoS genetics, 2006-08, Vol.2 (8), p.e132-e132

2006

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KLF1 gene mutations cause borderline HbA2

Blood, 2011-10, Vol.118 (16), p.4454-4458

2011

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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

PLoS genetics, 2007-11, Vol.3 (11), p.e194-e194

2007

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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

Haematologica (Roma), 2011-05, Vol.96 (5), p.767-770

2011

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature genetics, 2001-02, Vol.27 (2), p.159-166

2001

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Beta-thalassemia

Genetics in medicine, 2010-02, Vol.12 (2), p.61-76

2010

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Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis

Molecular and Cellular Biology, 2011-10, Vol.31 (19), p.4144-4154

2011

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Recent advances in β-thalassemias

Pediatric reports, 2011-06, Vol.3 (2), p.e17-e17

2011

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In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice

Haematologica (Roma), 2014-01, Vol.99 (1), p.76

2014

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The prevention of thalassemia

Cold Spring Harbor perspectives in medicine, 2013-02, Vol.3 (2), p.a011775-a011775

2013

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The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity

PloS one, 2010-03, Vol.5 (3), p.e9477-e9477

2010

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Alpha-thalassemia

Genetics in medicine, 2011-02, Vol.13 (2), p.83-88

2011

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Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

The Journal of biological chemistry, 2009-10, Vol.284 (44), p.30024-30031

2009

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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

Nature genetics, 2000-07, Vol.25 (3), p.324-328

2000

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Determination and stability of sex

BioEssays, 2007-01, Vol.29 (1), p.15-25

2007

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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American journal of human genetics, 2007-05, Vol.80 (5), p.971-981

2007

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Mutations in GPC3 , a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Nature genetics, 1996-03, Vol.12 (3), p.241-247

1996

Volltextzugriff (PDF)

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Journal of pediatric gastroenterology and nutrition, 2008-09, Vol.47 (3), p.334-338

2008

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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Human genetics, 1998-10, Vol.103 (4), p.428-434

1998

Volltextzugriff (PDF)

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Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

Heritability of cardiovascular and personality traits in 6,148 Sardinians

KLF1 gene mutations cause borderline HbA2

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Beta-thalassemia

Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis

Recent advances in β-thalassemias

In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice

The prevention of thalassemia

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity

Alpha-thalassemia

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

Determination and stability of sex

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Mutations in GPC3 , a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

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