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Recurrence of previous chilblain lesions during the second wave of COVID‐19: can we still doubt the correlation with SARS‐CoV‐2?

Journal of the European Academy of Dermatology and Venereology, 2021-08, Vol.35 (8), p.e475-e477

2021

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Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A

Journal of human genetics, 2008-03, Vol.53 (3), p.275-284

2008

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Prenatal diagnosis of haemophilia B: the Italian experience

Haemophilia : the official journal of the World Federation of Hemophilia, 2013-11, Vol.19 (6), p.898-903

2013

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Molecular analysis of severe factor XI deficiency in three Italian patients

Haemophilia : the official journal of the World Federation of Hemophilia, 2011-09, Vol.17 (5), p.e835-e836

2011

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Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene

Haemophilia : the official journal of the World Federation of Hemophilia, 2009-11, Vol.15 (6), p.1346-1348

2009

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MLPA assay in F8 gene mutation screening

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.625-627

2008

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An uncommon case of a female carrier of two distinct X-linked disorders

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.665-666

2008

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A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation

Haemophilia : the official journal of the World Federation of Hemophilia, 2010-05, Vol.16 (3), p.554-555

2010

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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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HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2)

Cancer research (Chicago, Ill.), 2004-04, Vol.64 (8), p.2649-2651

2004

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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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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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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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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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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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t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia

Leukemia research, 2005-04, Vol.29 (4), p.467-470

2005

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A Skewed Lyonization Phenomenon as Cause of Hemophilia A in a Female Patient

Blood, 1995-01, Vol.85 (2), p.599-600

1995

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Factor VIII Gene Inversions in Severe Hemophilia A: Results of an International Consortium Study

Blood, 1995-09, Vol.86 (6), p.2206-2212

1995

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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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Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A

Thrombosis and haemostasis, 1994-04, Vol.71 (4), p.428

1994

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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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Recurrence of previous chilblain lesions during the second wave of COVID‐19: can we still doubt the correlation with SARS‐CoV‐2?

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A

Prenatal diagnosis of haemophilia B: the Italian experience

Molecular analysis of severe factor XI deficiency in three Italian patients

Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene

MLPA assay in F8 gene mutation screening

An uncommon case of a female carrier of two distinct X-linked disorders

A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation

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

HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2)

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

More on the relationship between cystic fibrosis and venous thrombosis

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

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

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

t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia

A Skewed Lyonization Phenomenon as Cause of Hemophilia A in a Female Patient

Factor VIII Gene Inversions in Severe Hemophilia A: Results of an International Consortium Study

Analysis of 18 novel mutations in the factor VIII gene

Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A

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

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