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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.217-229

2012

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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

American journal of medical genetics, 2000-11, Vol.95 (2), p.108-117

2000

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The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected Individuals: New Topics in the Skeletal Dysplasias

American journal of medical genetics. Part C, Seminars in medical genetics, 2012, Vol.160 (3), p.217-229

2012

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Methimazole embryopathy: Delineation of the phenotype

American journal of medical genetics, 1999-03, Vol.83 (1), p.43-46

1999

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Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

American journal of medical genetics, 2000-09, Vol.94 (3), p.254-261

2000

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Familial congenital bicuspid aortic valve: A disorder of uncertain inheritance

American journal of medical genetics, 1996-04, Vol.62 (4), p.336-338

1996

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Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

American journal of medical genetics. Part A, 2021, Vol.185 (1), p.219-222

2021

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Reply to the letter to the editor by Szudek et al.-"Growth charts for young children with neurofibromatosis 1 (NF1)"

American journal of medical genetics, 2000-05, Vol.92 (3), p.228-228

2000

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Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

American journal of medical genetics, 1999-06, Vol.84 (5), p.413-419

1999

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X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

American Journal of Medical Genetics Part A, 2009, Vol.149A (11), p.2464-2468

2009

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Cardiovascular anomaly in Rieger Syndrome, Heterogeneity or contiguity?

Acta ophthalmologica Scandinavica, 1998-08, Vol.76 (4), p.509-512

1998

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Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive births

Teratology (Philadelphia), 1992-12, Vol.46 (6), p.551-553

1992

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Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy

American journal of human genetics, 2006, Vol.79 (3), p.593-6; author reply 596-7

2006

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Three cases with de novo 6q imbalance and variable prenatal phenotype

American journal of medical genetics, 2005, Vol.136A (3), p.254-258

2005

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Blastogenesis dominant 1: A sequence with midline anomalies and heterotaxy

American journal of medical genetics, 1997-02, Vol.68 (4), p.405-408

1997

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Schwartz-Jampel syndrome type 2 and St ve-Wiedemann syndrome: A case for ?Lumping?

American journal of medical genetics, 1998-06, Vol.78 (2), p.150-154

1998

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Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

American journal of medical genetics, 1993-07, Vol.46 (6), p.724-726

1993

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Neonatal growth patterns in a population of consecutively born Down syndrome children

American journal of medical genetics, 1990, Vol.37 (S7), p.71-74

1990

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Ring chromosome 21 in phenotypically apparently normal persons: Report of two families from Switzerland and Italy

American journal of medical genetics, 1983-11, Vol.16 (3), p.323-329

1983

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Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?

American journal of medical genetics, 1986-06, Vol.24 (2), p.357-364

1986

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Ultrastructure of metachromatic fibroblasts

American journal of diseases of children (1960), 1972-08, Vol.124 (2), p.296

1972

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Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia

American journal of medical genetics, 1993-12, Vol.47 (8), p.1225-1230

1993

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Popliteal pterygium syndrome presenting with orofacial abnormalities

Journal of maxillofacial surgery, 1984, Vol.12, p.174-177

1984

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Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family

Journal of maxillofacial surgery, 1984-08, Vol.12 (4), p.174-177

1984

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Journal of medical genetics, 2001, Vol.38 (6), p.417-420

2001

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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected Individuals: New Topics in the Skeletal Dysplasias

Methimazole embryopathy: Delineation of the phenotype

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Familial congenital bicuspid aortic valve: A disorder of uncertain inheritance

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

Reply to the letter to the editor by Szudek et al.-"Growth charts for young children with neurofibromatosis 1 (NF1)"

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

Cardiovascular anomaly in Rieger Syndrome, Heterogeneity or contiguity?

Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive births

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy

Three cases with de novo 6q imbalance and variable prenatal phenotype

Blastogenesis dominant 1: A sequence with midline anomalies and heterotaxy

Schwartz-Jampel syndrome type 2 and St ve-Wiedemann syndrome: A case for ?Lumping?

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

Neonatal growth patterns in a population of consecutively born Down syndrome children

Ring chromosome 21 in phenotypically apparently normal persons: Report of two families from Switzerland and Italy

Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?

Ultrastructure of metachromatic fibroblasts

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia

Popliteal pterygium syndrome presenting with orofacial abnormalities

Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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