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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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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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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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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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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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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

American journal of medical genetics, 2004-08, Vol.128A (4), p.340-351

2004

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Mutational spectrum of the CTNS gene in Italy

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.503-508

2003

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Phenotypic Analysis of Individuals With Costello Syndrome dye to HRAS p.G13C

American journal of medical genetics. Part A, 2011, Vol.155 (4), p.706-716

2011

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Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome

American journal of medical genetics, 1991-11, Vol.41 (2), p.246-250

1991

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Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

American journal of medical genetics, 2003-11, Vol.123A (1), p.79-83

2003

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Clinical and genetic heterogeneity in Meckel syndrome

Human genetics, 1997-11, Vol.101 (1), p.88-92

1997

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Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?

American journal of medical genetics, 1997-01, Vol.68 (1), p.91-93

1997

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Anesthesiologic problems in Williams syndrome : the CACNL2A locus is not involved

Human genetics, 1996-09, Vol.98 (3), p.317-320

1996

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D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Human genetics, 1993-10, Vol.92 (4), p.391-396

1993

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How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case

Journal of medical genetics, 1990-08, Vol.27 (8), p.516-518

1990

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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

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

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

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

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

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

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

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

Mutational spectrum of the CTNS gene in Italy

Phenotypic Analysis of Individuals With Costello Syndrome dye to HRAS p.G13C

Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

Clinical and genetic heterogeneity in Meckel syndrome

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?

Anesthesiologic problems in Williams syndrome : the CACNL2A locus is not involved

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case

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