Publications by authors named "Gioacchino Scarano"

63Publications

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

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy.

Int J Environ Res Public Health 2017 03 10;14(3). Epub 2017 Mar 10.

Institute of Clinical Physiology, National Research Council, Unit of Environmental Epidemiology and Disease Registries, 56124 Pisa, Italy.

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http://dx.doi.org/10.3390/ijerph14030292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369128PMC
March 2017

The promise of non-invasive prenatal testing needs to be monitored scientifically.

BMJ 2015 May 14;350:h2518. Epub 2015 May 14.

Medical Cytogenetics and Molecular Genetics Unit, AORN "Gaetano Rummo," 82100 Benevento, Italy.

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http://dx.doi.org/10.1136/bmj.h2518DOI Listing
May 2015

Molecular analysis of holoprosencephaly in South America.

Genet Mol Biol 2014 Mar;37(1 Suppl):250-62

Estudo Colaborativo Latino Americano de Malformações Congênitas, Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil . ; Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983586PMC
http://dx.doi.org/10.1590/s1415-47572014000200011DOI Listing
March 2014

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

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

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

Pediatr Pulmonol 2014 Mar 4;49(3):E45-7. Epub 2013 Mar 4.

U.O.C. Medical Genetics, Institute Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/ppul.22790DOI Listing
March 2014

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

Am J Med Genet A 2013 Apr 26;161A(4):809-16. Epub 2013 Feb 26.

Medical Genetics Division, General Hospital Gaetano Rummo, Benevento, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35742DOI Listing
April 2013

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

Am J Med Genet A 2012 Jul 7;158A(7):1604-11. Epub 2012 Jun 7.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35419DOI Listing
July 2012

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Am J Med Genet A 2012 Apr 14;158A(4):917-21. Epub 2012 Mar 14.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35265DOI Listing
April 2012

[Congenital malformations in Italy. A network to monitor the phenomenon].

Epidemiol Prev 2011 Sep-Dec;35(5-6 Suppl 2):90-1

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma.

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April 2012

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.

Am J Med Genet A 2007 Dec;143A(24):3169-74

Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31712DOI Listing
December 2007

Evidence for increased clinical severity of familial and sporadic Paget's disease of bone in Campania, southern Italy.

J Bone Miner Res 2006 Dec;21(12):1828-35

Department of Clinical and Experimental Medicine, Federico II University Medical School, Naples, Italy.

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http://dx.doi.org/10.1359/jbmr.060822DOI Listing
December 2006

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

Mol Genet Metab 2006 Jun 4;88(2):192-5. Epub 2006 Apr 4.

Institute of Food Science, Italian National Research Council, Avellino, Italy; Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Isernia, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2006.02.014DOI Listing
June 2006

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

Biometals 2005 Dec;18(6):587-93

Istituto di Biofisica, Consiglio Nazionale delle Ricerche (CNR), Area della Ricerca di Pisa, Via Moruzzi 1, 56124, Pisa, Italy.

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http://link.springer.com/10.1007/s10534-005-2998-1
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http://dx.doi.org/10.1007/s10534-005-2998-1DOI Listing
December 2005

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

Anal Bioanal Chem 2005 Oct 5;383(3):398-403. Epub 2005 Oct 5.

Institute of Inorganic Chemistry and Analytical Chemistry, Johannes Gutenberg-University of Mainz, Duesbergweg 10-14, 55099 Mainz, Germany.

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http://dx.doi.org/10.1007/s00216-005-3385-zDOI Listing
October 2005

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

Am J Med Genet A 2004 Apr;126A(2):204-7

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.20575
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http://dx.doi.org/10.1002/ajmg.a.20575DOI Listing
April 2004

A family with X-linked recessive fusion of metacarpals IV and V.

Am J Med Genet A 2004 Feb;124A(4):407-10

Division of Medical Genetics, Gaetano Rummo Hospital, Via dell'Angelo 1, I-82100 Benevento (BN), Italy.

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http://doi.wiley.com/10.1002/ajmg.a.20382
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http://dx.doi.org/10.1002/ajmg.a.20382DOI Listing
February 2004

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

Biometals 2002 Jun;15(2):145-51

Istituto di Biofisica, Consiglio Nazionale delle Ricerche (CNR), Pisa, Italy.

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http://dx.doi.org/10.1023/a:1015288000218DOI Listing
June 2002