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Scientific Reports|June 16, 2023
Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestationsFederica Del Chierico, Valeria Marzano, Matteo Scanu, et al.
Biomolecules|May 27, 2023
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated RearrangementsViola Alesi, Silvia Genovese, Francesca Romana Lepri, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profileViola Alesi, Sara Loddo, Valeria Orlando, et al.
American Journal of Medical Genetics. Part A|September 30, 2014
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of FallotAnwar Baban, Alex Vincent Postma, Monica Marini, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defectAnwar Baban, Nicole Olivini, Nicoletta Cantarutti, et al.
The American Journal of Cardiology|August 19, 2007
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndromeGiuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, et al.
Brain Sciences|November 14, 2020
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, et al.
Archives of Disease in Childhood|October 5, 2014
Kabuki syndrome: clinical and molecular diagnosis in the first year of lifeMaria Lisa Dentici, Alessandra Di Pede, Francesca Romana Lepri, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of FallotValentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.
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