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Severe bone disease with bilateral femur fracture in a young woman after gastrectomy for gastric polyposis with SMAD4 mutation

Journal of endocrinological investigation, 2010-02, Vol.33 (2), p.130-131

2010

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Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome

Familial cancer, 2009-12, Vol.8 (4), p.547-553

2009

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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

Journal of medical genetics, 2001-12, Vol.38 (12), p.863-867

2001

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A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Clinical genetics, 2006-03, Vol.69 (3), p.254-262

2006

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Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas

International journal of cancer, 2004-05, Vol.109 (5), p.680-684

2004

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Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

Journal of medical genetics, 2000-07, Vol.37 (7), p.E7-7

2000

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Nine novel APC mutations in Italian FAP patients

Human mutation, 2001-05, Vol.17 (5), p.434-435

2001

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Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

American journal of human genetics, 1993-11, Vol.53 (5), p.1031-1037

1993

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STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer

Cancer research (Chicago, Ill.), 1998-11, Vol.58 (21), p.4799-4801

1998

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Therapy with recombinant erythropoietin in paroxysmal nocturnal haemoglobinuria

British journal of haematology, 1996-08, Vol.94 (2), p.424-424

1996

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Expression and Genomic Configuration of GM-CSF, IL-3, M-CSF Receptor (C-FMS), Early Growth Response Gene-1 (EGR-1) and M-CSF Genes in Primary Myelodysplastic Syndromes

Leukemia & lymphoma, 1994, Vol.15 (1-2), p.135-141

1994

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Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

Journal of the neurological sciences, 2003-08, Vol.212 (1), p.75-78

2003

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Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration

Genetic testing, 2007-12, Vol.11 (4), p.421-426

2007

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Localization of Loci for Hypoxanthine Phosphoribosyltransferase and Glucose-6-Phosphate Dehydrogenase and Biochemical Evidence of Nonrandom X Chromosome Expression from Studies of a Human X--Autosome Translocation

Proceedings of the National Academy of Sciences - PNAS, 1980-05, Vol.77 (5), p.2810-2813

1980

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Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients

American journal of medical genetics, 2004-09, Vol.130A (1), p.98-101

2004

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Clinical Findings in a Family with Familial Adenomatous Polyposis and a Missense Mutation of the Adenomatous Polyposis Coli Gene

Scandinavian journal of gastroenterology, 1996, Vol.31 (9), p.917-920

1996

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Clinical and Biologic Features of Adenomatosis Coli in Northern Italy

Scandinavian journal of gastroenterology, 1995, Vol.30 (8), p.771-779

1995

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Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

American journal of medical genetics, 2003-07, Vol.120A (2), p.286-288

2003

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Collection of Italian hereditary non-polyposis colorectal cancer (HNPCC) pedigrees

Tumori, 1996-03, Vol.82 (2), p.151-179

1996

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Short Report: A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Clinical genetics, 2006-03, Vol.69 (3), p.254-262

2006

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Splenic embolization in the treatment of a case of hereditary hemolytic anemia

Haematologica (Roma), 1993-05, Vol.78 (3), p.195

1993

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Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase

American journal of human genetics, 1981-09, Vol.33 (5), p.752-761

1981

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Favism: Erythrocyte Metabolism during Haemolysis and Reticulocytosis

British journal of haematology, 1979-09, Vol.43 (1), p.39-48

1979

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Red cell NADP+ and NADPH in glucose-6-phosphate dehydrogenase deficiency

The Journal of clinical investigation, 1975-04, Vol.55 (4), p.875-878

1975

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Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome

Cell, 1980-08, Vol.21 (1), p.95-102

1980

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Severe bone disease with bilateral femur fracture in a young woman after gastrectomy for gastric polyposis with SMAD4 mutation

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas

Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

Nine novel APC mutations in Italian FAP patients

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer

Therapy with recombinant erythropoietin in paroxysmal nocturnal haemoglobinuria

Expression and Genomic Configuration of GM-CSF, IL-3, M-CSF Receptor (C-FMS), Early Growth Response Gene-1 (EGR-1) and M-CSF Genes in Primary Myelodysplastic Syndromes

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration

Localization of Loci for Hypoxanthine Phosphoribosyltransferase and Glucose-6-Phosphate Dehydrogenase and Biochemical Evidence of Nonrandom X Chromosome Expression from Studies of a Human X--Autosome Translocation

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients

Clinical Findings in a Family with Familial Adenomatous Polyposis and a Missense Mutation of the Adenomatous Polyposis Coli Gene

Clinical and Biologic Features of Adenomatosis Coli in Northern Italy

Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

Collection of Italian hereditary non-polyposis colorectal cancer (HNPCC) pedigrees

Short Report: A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Splenic embolization in the treatment of a case of hereditary hemolytic anemia

Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase

Favism: Erythrocyte Metabolism during Haemolysis and Reticulocytosis

Red cell NADP+ and NADPH in glucose-6-phosphate dehydrogenase deficiency

Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome

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