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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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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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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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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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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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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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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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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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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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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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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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Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

Cytogenetic and genome research, 1993, Vol.63 (2), p.102-106

1993

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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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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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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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Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

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

1993

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De novo (15;21) unbalanced translocation of paternal origin in a girl with prader-willi syndrome

American journal of medical genetics, 1990-09, Vol.37 (1), p.62-64

1990

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

Prenatal diagnosis of haemophilia B: the Italian experience

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

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

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

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

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

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

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

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

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

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

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

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

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

Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

De novo (15;21) unbalanced translocation of paternal origin in a girl with prader-willi syndrome

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