All Stories

  1. Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects

    Article • Expert Opinion on Orphan Drugs, June 2018, Taylor & Francis

    Dr Mariluce Riegel

  2. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

    Article • BioMed Research International, January 2018, Hindawi Publishing Corporation

    Dr Mariluce Riegel

  3. Current molecular genetics strategies for the diagnosis of lysosomal storage disorders

    Article • Expert Review of Molecular Diagnostics, December 2015, Taylor & Francis

    Dr Mariluce Riegel, Dr Sandra Leistner-Segal

  4. Genetics causes of Intellectual Disability

    Article • American Journal of Medical Genetics Part A, February 2015, Wiley

    Professor Simone M Karam, Dr Mariluce Riegel, Dr Sandra Leistner-Segal

  5. Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

    Article • Jornal de Pediatria (Versão em Português), January 2015, Elsevier

    Dr Mariluce Riegel

  6. Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

    Article • BioMed Research International, January 2015, Hindawi Publishing Corporation

    Dr Mariluce Riegel

  7. An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies

    Article • European Journal of Human Genetics, July 2014, Nature

    Dr Mariluce Riegel

  8. Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7

    Article • European Journal of Medical Genetics, March 2011, Elsevier

    Dr Mariluce Riegel

  9. Esophageal stenosis in a child presenting a de novo 7q terminal deletion

    Article • European Journal of Medical Genetics, September 2010, Elsevier

    Dr Mariluce Riegel

  10. Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25-q31.1)” [Am J Med Genet Part A 152A:977-981]

    Article • American Journal of Medical Genetics Part A, June 2010, Wiley

    Dr Mariluce Riegel

  11. Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))—Causal relationship or coincidence?

    Article • Seizure, November 2009, Elsevier

    Dr Mariluce Riegel

  12. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

    Article • European Journal of Medical Genetics, March 2008, Elsevier

    Dr Mariluce Riegel

  13. Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

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

    Dr Mariluce Riegel

  14. Dr. Hans Riegel

    Article • January 2005, Springer Science + Business Media

    Dr Mariluce Riegel

  15. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

    Article • Arquivos de Neuro-Psiquiatria, December 2002, FapUNIFESP (SciELO)

    Dr Mariluce Riegel