List of works - Gioacchino Scarano

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

scientific article published in January 2007

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

scientific article published in November 2007

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

scientific article published on 14 October 2011

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

scientific article published on 26 July 2005

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

scientific article published on 14 October 2011

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

scientific article

Biosynthesis of Cd-bound phytochelatins by Phaeodactylum tricornutum and their speciation by size-exclusion chromatography and ion-pair chromatography coupled to ICP-MS.

scientific article

Biosynthesis of phytochelatins and arsenic accumulation in the marine microalga Phaeodactylum tricornutum in response to arsenate exposure

scientific article published in December 2005

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

scientific article published on 14 October 2011

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

scientific article

Characterization of cadmium- and lead-phytochelatin complexes formed in a marine microalga in response to metal exposure

scientific article published in June 2002

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

scientific article published on 10 March 2017

Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

scientific article published on 14 October 2011

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

scientific article published on 21 May 2007

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

scientific article published on 17 October 2011

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

scientific article published on 28 September 2016

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations

scientific article

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

scientific article

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

scientific article

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

scientific article

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

scientific article

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

scientific article published on 22 February 2012

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

scientific article

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

scientific article published in April 2004

Molecular analysis of holoprosencephaly in South America

scientific article published on March 2014

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

scientific article

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

scientific article published on 08 July 2014

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

scientific article published in October 2003

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

scientific article published on 14 October 2011

Preferential associations between oral clefts and other major congenital anomalies.

scientific article published in September 2008

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

scientific article published on 2 July 2014

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

scientific article

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

scientific article

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

scientific article published on 13 July 2016

Prevalence of maternal preconception risk factors: an Italian multicenter survey

scientific article

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

scientific article

Preventing neural tube defects in Europe: a missed opportunity

scientific article published on September 2005

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

scientific article published on 4 March 2013

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

scientific article published on 3 October 2013

Sex and congenital malformations: an international perspective

scientific article published in April 2005

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

scientific article published on 14 October 2011

Social and geographical inequalities in prenatal care in Italy ⬇️

scientific article published on 01 June 1995

Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research.

scientific article published on 27 March 2010

List of works by Gioacchino Scarano

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Biosynthesis of Cd-bound phytochelatins by Phaeodactylum tricornutum and their speciation by size-exclusion chromatography and ion-pair chromatography coupled to ICP-MS.

Biosynthesis of phytochelatins and arsenic accumulation in the marine microalga Phaeodactylum tricornutum in response to arsenate exposure

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Characterization of cadmium- and lead-phytochelatin complexes formed in a marine microalga in response to metal exposure

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

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

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Molecular analysis of holoprosencephaly in South America

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Preferential associations between oral clefts and other major congenital anomalies.

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

Prevalence of maternal preconception risk factors: an Italian multicenter survey

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Preventing neural tube defects in Europe: a missed opportunity

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

Sex and congenital malformations: an international perspective

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

Social and geographical inequalities in prenatal care in Italy ⬇️

Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research.