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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.734-741

2012

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Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1604-1611

2012

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High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

Genomics (San Diego, Calif.), 2007-11, Vol.90 (5), p.567-573

2007

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A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy

Reproductive toxicology (Elmsford, N.Y.), 2007-07, Vol.24 (1), p.1-8

2007

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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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Prevalence at Birth of Cleft Lip with or without Cleft Palate: Data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)

The Cleft palate-craniofacial journal, 2011-01, Vol.48 (1), p.66-81

IPDTOC Working Group

2011

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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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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Human genetics, 1996-12, Vol.98 (6), p.696-699

1996

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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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Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.795-796

2010

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Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.528-537

2007

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Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries

Prenatal diagnosis, 2000-11, Vol.20 (11), p.870-875

2000

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Pesticides and fertility: An epidemiological study in Northeast Italy and review of the literature

Reproductive toxicology (Elmsford, N.Y.), 2008-09, Vol.26 (1), p.13-18

2008

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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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A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.586-591

2005

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Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy

American journal of medical genetics, 2003-09, Vol.121A (3), p.214-218

2003

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

Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420

2001

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Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.647-650

2007

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A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

Neurogenetics, 2007, Vol.8 (1), p.57-60

2007

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

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2464-2468

2009

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Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly

European journal of obstetrics & gynecology and reproductive biology, 2006-09, Vol.128 (1), p.77-80

2006

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NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

American journal of human genetics, 2000-01, Vol.66 (1), p.100-109

2000

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Prevalence at Birth of Cleft Lip with or without Cleft Palate: Data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)

Methimazole embryopathy: Delineation of the phenotype

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

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

Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy

Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries

Pesticides and fertility: An epidemiological study in Northeast Italy and review of the literature

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Familial congenital bicuspid aortic valve: A disorder of uncertain inheritance

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy

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

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

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

Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

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