Publications by authors named "Antonio Percesepe"

55Publications

Liquid biopsy with cell free DNA: new horizons for prostate cancer.

Crit Rev Clin Lab Sci 2020 Aug 17:1-17. Epub 2020 Aug 17.

Faculty of Medicine, Department of Clinical Biochemistry, Akdeniz University, Antalya, Turkey.

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August 2020

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Gene 2019 Jul 11;706:162-171. Epub 2019 May 11.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address:

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July 2019

Genetic diagnosis in neonatal-onset epilepsies: Back to the future.

Eur J Paediatr Neurol 2018 May 16;22(3):354-357. Epub 2018 Feb 16.

Child Neuropsychiatry Unit, University of Parma, Parma, Italy.

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May 2018

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.

Thromb Haemost 2017 08 27;117(8):1455-1464. Epub 2017 Apr 27.

Gabriele Quintavalle, Regional Reference Centre for inherited bleeding disorders, University Hospital of Parma, Via Gramsci 14, 43126 Parma, Italy, Tel.: +39 0521 703971, Fax: +39 0521 704332, E-mail:

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August 2017

Reverse phenotyping comes of age.

Mol Genet Metab 2016 08 14;118(4):230-1. Epub 2016 May 14.

Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Parma, Italy. Electronic address:

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August 2016

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Curr Genomics 2015 Aug;16(4):264-78

Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy;

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August 2015

Pre- and post-natal growth in two sisters with 3-M syndrome.

Eur J Med Genet 2016 Apr 2;59(4):232-6. Epub 2016 Feb 2.

Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy. Electronic address:

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April 2016

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

Eur J Med Genet 2015 Nov 28;58(11):597-602. Epub 2015 Sep 28.

Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy. Electronic address:

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November 2015

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

J Obstet Gynaecol Res 2015 Nov 30;41(11):1831-4. Epub 2015 Jul 30.

Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy.

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November 2015

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement.

Clin Dysmorphol 2015 Jan;24(1):17-20

aNeonatal Intensive Care Unit, Department of Mother and Child bMedical Genetics Unit, Department of Medical and Surgical Sciences cAudiology Unit, Department of Diagnostic Medicine, Clinical and Public Health, University of Modena, Modena dOtolaryngology Department, Community Healthcare Services, Modena, Italy eHuman Genetics, University of Ulm, Ulm, Germany.

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January 2015

Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.

J Med Case Rep 2014 Oct 9;8:333. Epub 2014 Oct 9.

Department of Clinical and Diagnostic Medicine and Public Health, University of Modena and Reggio Emilia, via del Pozzo 71, 41124 Modena, Italy.

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October 2014

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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October 2014

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.

Am J Med Genet A 2013 Oct 6;161A(10):2559-63. Epub 2013 Aug 6.

Cytogenetic Laboratory, Unit of Obstetrics and Gynecology, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.

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October 2013

Holoprosencephaly: report of four cases and genotype-phenotype correlations.

J Genet 2013 Apr;92(1):97-101

Pediatrics Unit, Department of Mother and Child, University of Modena, Modena, Italy.

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April 2013

Second trimester amniocentesis is not a risk factor for very low birth weight and extremely low birth weight.

ISRN Obstet Gynecol 2011 3;2011:313206. Epub 2011 Aug 3.

Prenatal Medicine Unit, Department of Obstetrics and Gynecology, University of Modena and Reggio Emilia, 41121 Modena, Italy.

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November 2011

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

J Appl Genet 2011 Aug 3;52(3):335-9. Epub 2011 Mar 3.

Neonatology Unit, Department of Mother & Child, University of Modena, Via del Pozzo 71, Modena, Italy.

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August 2011

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.

Eur J Hum Genet 2009 Jul 21;17(7):897-903. Epub 2009 Jan 21.

Department of Medical Genetics, University of Modena, Modena, Italy.

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July 2009

Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases.

Prenat Diagn 2007 Feb;27(2):180-3

Prenatal Medicine Unit, Department of Obstetrics and Gynecology, Modena and Reggio Emilia University, Italy.

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February 2007

Genes and translocations involved in POF.

Am J Med Genet 2002 Aug;111(3):328-33

Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland 21224, USA.

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August 2002