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Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.417-426

2009

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Incidence of ocular pathologies in Italian children with Down syndrome

European journal of ophthalmology, 2007-09, Vol.17 (5), p.817-822

2007

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Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Thrombosis and haemostasis, 2000-10, Vol.84 (4), p.576

2000

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Holt–Oram syndrome associated with anomalies of the feet

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1185-1189

2008

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Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease

American journal of human genetics, 1996-07, Vol.59 (1), p.262-264

1996

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A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA

American journal of human genetics, 1996-12, Vol.59 (6), p.1391-1393

1996

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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical genetics, 2004-02, Vol.65 (2), p.156-157

2004

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Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned

Haematologica (Roma), 2016-03, Vol.101 (3), p.319

2016

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1025-1032

2005

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Spina bifida, 677T-->C mutation, and role of folate

The Lancet (British edition), 1995-12, Vol.346 (8991-8992), p.1703-1703

1995

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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Human molecular genetics, 2008-05, Vol.17 (10), p.1427-1435

2008

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Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Genetics in medicine, 2006-07, Vol.8 (7), p.409-416

2006

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Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

Pflügers Archiv, 2000-03, Vol.439 (5), p.513-516

2000

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P-68 The GH-IGF axis in glycogen storage disease type 1 (GSD): Evidence of different growth patterns and IGF levels in patients with GSD1 A and GSD1 B

Growth hormone & IGF research, 2008, Vol.18, p.S47-S47

2008

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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.937-940

1999

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Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exon

The EMBO journal, 1987-08, Vol.6 (8), p.2337-2342

1987

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The molecular bases of cystinuria and lysinuric protein intolerance

Current Opinion in Genetics & Development, 2001-06, Vol.11 (3), p.328-335

2001

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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

Human genetics, 1995-10, Vol.96 (4), p.444-448

1995

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Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?

European journal of pediatrics, 1998-04, Vol.157 (S2), p.S67-S70

1998

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Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Nature genetics, 1999-03, Vol.21 (3), p.297-301

1999

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Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis

Proceedings of the National Academy of Sciences - PNAS, 1987-07, Vol.84 (13), p.4519-4523

1987

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Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats

American journal of human genetics, 1989-10, Vol.45 (4), p.489-497

1989

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Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

The Journal of pediatrics, 2004-08, Vol.145 (2), p.268-272

2004

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Molecular analysis of aldolase B genes in hereditary fructose intolerance

The Lancet (British edition), 1990-02, Vol.335 (8685), p.306-309

1990

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Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

Incidence of ocular pathologies in Italian children with Down syndrome

Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Holt–Oram syndrome associated with anomalies of the feet

Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

Spina bifida, 677T-->C mutation, and role of folate

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

P-68 The GH-IGF axis in glycogen storage disease type 1 (GSD): Evidence of different growth patterns and IGF levels in patients with GSD1 A and GSD1 B

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exon

The molecular bases of cystinuria and lysinuric protein intolerance

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?

Cystathionine β-synthase mutations in homocystinuria

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis

Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

Molecular analysis of aldolase B genes in hereditary fructose intolerance

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