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Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.635-640

2005

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Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy

Haematologica (Roma), 2004-06, Vol.89 (6), p.758

2004

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Analysis of 18 novel mutations in the factor VIII gene

British journal of haematology, 2003-09, Vol.122 (5), p.810-817

2003

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Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B

Haemophilia : the official journal of the World Federation of Hemophilia, 2006-05, Vol.12 (3), p.263-270

2006

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Numerical and structural aberrations in advanced neuroblastoma tumours by CGH analysis; survival correlates with chromosome 17 status

British journal of cancer, 2000-11, Vol.83 (10), p.1295-1300

2000

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Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation

Thrombosis and haemostasis, 2005, Vol.93 (2), p.391

2005

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Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication

Haematologica (Roma), 2005-07, Vol.90 (7), p.997-999

2005

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Small FVIII gene rearrangements in 18 hemophilia A patients: Five novel mutations

American journal of hematology, 2005-02, Vol.78 (2), p.117-122

2005

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Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

Human molecular genetics, 1993-11, Vol.2 (11), p.1803-1808

1993

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Germ-line origin of intron 1 inversion in two haemophilia A families

Haemophilia : the official journal of the World Federation of Hemophilia, 2003-11, Vol.9 (6), p.717-720

2003

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Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A

Haemophilia : the official journal of the World Federation of Hemophilia, 2004-11, Vol.10 (6), p.744-746

2004

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A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia : the official journal of the World Federation of Hemophilia, 2001-07, Vol.7 (4), p.416-418

2001

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Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families

Haemophilia : the official journal of the World Federation of Hemophilia, 2002-09, Vol.8 (5), p.730-732

2002

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Mutation analysis impact on the genetic counseling of sporadic hemophilia B families

American journal of medical genetics, 2003-05, Vol.118A (4), p.328-331

2003

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A homozygosity state for 20210A prothrombin variant in a young woman as cause of a deep venous thrombosis during pregnancy

European journal of haematology, 2000-07, Vol.65 (1), p.80

2000

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More on the relationship between cystic fibrosis and venous thrombosis

European journal of haematology, 2000-07, Vol.65 (1), p.82-83

2000

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Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

Pediatric surgery international, 1992-06, Vol.7 (4), p.308-310

1992

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A rapid prenatal diagnosis of hemophilia A by DNA analysis on crude chorionic villus biopsy

Haematologica (Roma), 1999-04, Vol.84 (4), p.382

1999

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Inversion mutation as a major cause of severe hemophilia A in Italian patients

Haematologica (Roma), 1997-01, Vol.82 (1), p.75

1997

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Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient

Genomics (San Diego, Calif.), 1992-11, Vol.14 (3), p.557-561

1992

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Prenatal diagnosis of a partial 8p trisomy

Prenatal diagnosis, 1990-08, Vol.10 (8), p.533-538

1990

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Environmental Monitoring and Task-Driven Computing

IEEE pervasive computing, 2010-10, Vol.9 (4), p.48-50

2010

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Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A

Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy

Analysis of 18 novel mutations in the factor VIII gene

Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B

Numerical and structural aberrations in advanced neuroblastoma tumours by CGH analysis; survival correlates with chromosome 17 status

Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation

Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication

Small FVIII gene rearrangements in 18 hemophilia A patients: Five novel mutations

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

Germ-line origin of intron 1 inversion in two haemophilia A families

Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families

Mutation analysis impact on the genetic counseling of sporadic hemophilia B families

A homozygosity state for 20210A prothrombin variant in a young woman as cause of a deep venous thrombosis during pregnancy

More on the relationship between cystic fibrosis and venous thrombosis

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

A rapid prenatal diagnosis of hemophilia A by DNA analysis on crude chorionic villus biopsy

Inversion mutation as a major cause of severe hemophilia A in Italian patients

Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient

Prenatal diagnosis of a partial 8p trisomy

Environmental Monitoring and Task-Driven Computing

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