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  1. Small 4p16.3 deletions: Three additional patients and review of the literature

    Article • American Journal of Medical Genetics Part A, September 2018, Wiley

    Dr Fortunato Lonardo, Radio Francesca Clementina

  2. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

    Article • Clinical Genetics, January 2018, Wiley

    Dr Fortunato Lonardo

  3. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

    Article • Clinical Genetics, September 2017, Wiley

    Dr Fortunato Lonardo

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

    Article • American Journal of Medical Genetics Part A, September 2016, Wiley

    Dr Fortunato Lonardo

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

    Article • BMJ, May 2015, BMJ

    Dr Fortunato Lonardo

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

    Article • American Journal of Medical Genetics Part A, July 2014, Wiley

    Dr Fortunato Lonardo

  7. Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the “Sansevero Chapel”

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

    Dr Fortunato Lonardo

  8. The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world

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

    Dr Fortunato Lonardo

  9. Genomic microarrays in prenatal diagnosis

    Article • World Journal of Medical Genetics, January 2013, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Dr Fortunato Lonardo

  10. Inhibin B levels and Precocious puberty

    Article • Hormone Research in Paediatrics, January 2013, Karger Publishers

    Dr Fortunato Lonardo

  11. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Dr Fortunato Lonardo

  12. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of thePCNTgene

    Article • American Journal of Medical Genetics Part A, November 2009, Wiley

    Dr Fortunato Lonardo

  13. Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

    Article • Prenatal Diagnosis, October 2009, Wiley

    Dr Fortunato Lonardo

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

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

    Dr Fortunato Lonardo

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

    Article • European Journal of Medical Genetics, July 2007, Elsevier

    Dr Fortunato Lonardo

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

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

    Dr Fortunato Lonardo

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

    Article • Molecular Genetics and Metabolism, June 2006, Elsevier

    Dr Fortunato Lonardo

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

    Article • Prenatal Diagnosis, January 2005, Wiley

    Dr Fortunato Lonardo

  19. P11.10: Use of 3D US scan and prenatal diagnosis of Weaver syndrome

    Article • Ultrasound in Obstetrics and Gynecology, August 2004, Wiley

    Dr Fortunato Lonardo

  20. Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

    Article • American Journal of Medical Genetics Part A, February 2004, Wiley

    Dr Fortunato Lonardo

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

    Article • American Journal of Medical Genetics, January 2004, Wiley

    Dr Fortunato Lonardo

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

    Article • Prenatal Diagnosis, January 2004, Wiley

    Dr Fortunato Lonardo

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

    Article • American Journal of Medical Genetics, January 2004, Wiley

    Dr Fortunato Lonardo

  24. 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)

    Article • American Journal of Medical Genetics, September 2003, Wiley

    Dr Fortunato Lonardo

  25. P167: Prenatal diagnosis of asphyxiating thoracic dysplasia during the mid trimester us scan

    Article • Ultrasound in Obstetrics and Gynecology, January 2003, Wiley

    Dr Fortunato Lonardo

  26. P145: Mid second trimester prenatal diagnosis of vater association

    Article • Ultrasound in Obstetrics and Gynecology, January 2003, Wiley

    Dr Fortunato Lonardo

  27. Novel findings in a patient with Weaver or a Weaver-like syndrome

    Article • American Journal of Medical Genetics, May 1996, Wiley

    Dr Fortunato Lonardo

  28. Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

    Article • Prenatal Diagnosis, June 1994, Wiley

    Dr Fortunato Lonardo

  29. Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta

    Article • Human Mutation, January 1993, Wiley

    Dr Fortunato Lonardo

  30. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome

    Article • Prenatal Diagnosis, January 1988, Wiley

    Dr Fortunato Lonardo

  31. Prenatal diagnosis of Mohr syndrome by ultrasonography

    Article • Prenatal Diagnosis, November 1985, Wiley

    Dr Fortunato Lonardo