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  • Filomena T Papa, Maria Antonietta Mencarelli, +12 authors Alessandra Renieri
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2008 (First Publication: 1 August 2008)
  • The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes twoContinue Reading
  • Marzia Pollazzon, Salvatore Grosso, +7 authors Alessandra Renieri
  • Biology, Medicine
  • European journal of medical genetics
  • 2009 (First Publication: 1 March 2009)
  • We describe a de novo 3q27.3q29 deletion in a 2.5-year-old female patient with developmental and growth delay, dysmorphic facial features, mild tricuspid valve dysplasia, bifid thumb, clinodactyly ofContinue Reading
  • Eleni Katzaki, Gilles Morin, +11 authors Nicole Philip
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2010 (First Publication: 27 May 2010)
  • During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as aContinue Reading
  • Marianna Bugiani, Yolanda Gyftodimou, +16 authors Michael Bjorn Petersen
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2008 (First Publication: 1 September 2008)
  • Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinalContinue Reading