All Stories

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

    Article • Journal of Obstetrics and Gynaecology Research, July 2015, Wiley

    Dr antonio percesepe

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

    Article • Current Genomics, June 2015, Bentham Science Publishers

    Dr antonio percesepe

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

    Article • Clinical Dysmorphology, January 2015, Wolters Kluwer Health

    Dr antonio percesepe

  4. Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

    Article • The American Journal of Human Genetics, December 2014, Elsevier

    Dr antonio percesepe

  5. New and Rare GJB2 Alleles in Patients with Nonsyndromic Sensorineural Hearing Impairment: A Genotype/Auditory Phenotype Correlation

    Article • Genetic Testing and Molecular Biomarkers, December 2014, Mary Ann Liebert Inc

    Dr antonio percesepe

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

    Article • European Journal of Medical Genetics, October 2014, Elsevier

    Dr antonio percesepe

  7. VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement

    Article • The Journal of Pediatrics, March 2014, Elsevier

    Dr antonio percesepe

  8. A three-generation family with terminal microdeletion involving 5p15.33–32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome

    Article • European Journal of Medical Genetics, March 2014, Elsevier

    Dr antonio percesepe

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

    Article • Journal of Medical Case Reports, January 2014, Springer Science + Business Media

    Dr antonio percesepe, Dr. Victor Desmond Mandel

  10. Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

    Article • Italian Journal of Pediatrics, January 2014, Springer Science + Business Media

    Dr antonio percesepe

  11. Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, December 2013, Wiley

    Dr antonio percesepe

  12. Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells

    Article • Regenerative Medicine, September 2013, Future Medicine

    Dr antonio percesepe

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

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr antonio percesepe

  14. Holoprosencephaly: report of four cases and genotype–phenotype correlations

    Article • Journal of Genetics, April 2013, Springer Science + Business Media

    Dr antonio percesepe

  15. Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

    Article • Case Reports in Obstetrics and Gynecology, January 2013, Hindawi Publishing Corporation

    Dr antonio percesepe

  16. First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previouslyaffected family

    Article • Prenatal Diagnosis, June 2011, Wiley

    Dr antonio percesepe

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

    Article • Journal of Applied Genetics, March 2011, Springer Science + Business Media

    Dr antonio percesepe

  18. Second Trimester Amniocentesis Is Not a Risk Factor for Very Low Birth Weight and Extremely Low Birth Weight

    Article • ISRN Obstetrics and Gynecology, January 2011, Hindawi Publishing Corporation

    Dr antonio percesepe

  19. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

    Article • Orphanet Journal of Rare Diseases, January 2011, Springer Science + Business Media

    Dr antonio percesepe

  20. Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues

    Article • Journal of Obstetrics and Gynaecology Research, August 2010, Wiley

    Dr antonio percesepe

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

    Article • European Journal of Human Genetics, January 2009, Nature

    Dr antonio percesepe

  22. Familial Beckwith–Wiedemann syndrome due toCDKN1C mutation manifesting with recurring omphalocele

    Article • Prenatal Diagnosis, January 2008, Wiley

    Dr antonio percesepe

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

    Article • Prenatal Diagnosis, January 2007, Wiley

    Dr antonio percesepe

  24. Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

    Article • American Journal of Medical Genetics Part A, January 2007, Wiley

    Dr antonio percesepe

  25. Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

    Article • Prenatal Diagnosis, January 2005, Wiley

    Dr antonio percesepe

  26. First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

    Article • Prenatal Diagnosis, August 2004, Wiley

    Dr antonio percesepe

  27. Genes and translocations involved in POF

    Article • American Journal of Medical Genetics, July 2002, Wiley

    Dr antonio percesepe

  28. Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation

    Article • Diseases of the Colon & Rectum, November 2001, Wolters Kluwer Health

    Dr antonio percesepe

  29. Methylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer

    Article • Genes Chromosomes and Cancer, January 2001, Wiley

    Dr antonio percesepe

  30. Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer

    Article • International Journal of Cancer, January 2001, Wiley

    Dr antonio percesepe

  31. Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum

    Article • The American Journal of Gastroenterology, August 2000, Nature

    Dr antonio percesepe

  32. Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts

    Article • Genes Chromosomes and Cancer, April 2000, Wiley

    Dr antonio percesepe

  33. Microsatellite instability in multiple colorectal tumors

    Article • International Journal of Cancer, March 1999, Wiley

    Dr antonio percesepe

  34. The I1307K polymorphism of the APC gene in colorectal cancer

    Article • Gastroenterology, January 1999, Elsevier

    Dr antonio percesepe

  35. Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

    Article • The American Journal of Gastroenterology, November 1998, Nature

    Dr antonio percesepe

  36. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability

    Article • Oncogene, July 1998, Nature

    Dr antonio percesepe

  37. Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

    Article • New England Journal of Medicine, May 1998, New England Journal of Medicine (NEJM/MMS)

    Dr antonio percesepe

  38. MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

    Article • International Journal of Cancer, March 1998, Wiley

    Dr antonio percesepe

  39. Hereditary Nonpolyposis Colorectal Cancer: An Approach to the Selection of Candidates to Genetic TestingBased on Clinical and MolecularCharacteristics

    Article • Public Health Genomics, January 1998, Karger Publishers

    Dr antonio percesepe, Marcello Covino

  40. Survival analysis in families affected by hereditary non-polyposis colorectal cancer

    Article • International Journal of Cancer, May 1997, Wiley

    Dr antonio percesepe

  41. K-ras andp53 mutations in hereditary non-polyposis colorectal cancers

    Article • International Journal of Cancer, February 1997, Wiley

    Dr antonio percesepe

  42. Characterization ofMSH2 andMLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

    Article • Genes Chromosomes and Cancer, January 1997, Wiley

    Dr antonio percesepe, Marcello Covino

  43. Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): Results of a multivariate analysis

    Article • International Journal of Cancer, September 1994, Wiley

    Dr antonio percesepe

  44. DNA ploidy pattern in human chronic liver diseases and hepatic nodular lesions. Flow cytometric analysis on echo-guided needle liver biopsy

    Article • Cancer, January 1994, Wiley

    Dr antonio percesepe

  45. Cowdenʼs Disease with Extensive Gastrointestinal Polyposis

    Article • Journal of Clinical Gastroenterology, January 1994, Wolters Kluwer Health

    Dr antonio percesepe