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Molecular Syndromology|February 20, 2018
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental DelayGiulia Parmeggiani, Stefania Bigoni, Barbara Buldrini, et al.
Pediatric Dermatology|March 14, 2021
The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insightsRiccardo Forconi, Stefania Bigoni, Lucrezia Pacetti, et al.
Plos One|March 31, 2022
Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchyRachele Rossi, Mingyan Fang, Lin Zhu, et al.
American Journal of Medical Genetics. Part A|April 12, 2011
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutationsAlberto Sensi, Stefano Ceruti, Patrizia Trevisi, et al.
American Journal of Medical Genetics. Part A|January 11, 2005
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutationPaola Rimessi, Francesca Gualandi, Laurence Duprez, et al.
Muscle & Nerve|April 14, 2011
Macrophages: a minimally invasive tool for monitoring collagen VI myopathiesFrancesca Gualandi, Rosa Curci, Patrizia Sabatelli, et al.
American Journal of Medical Genetics. Part A|October 19, 2021
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotypeMarianna Farnè, Laura Bernardini, Anna Capalbo, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 28, 2021
Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutationFrancesca Pastorelli, Gioele Fabbri, Claudio Rapezzi, et al.
Scientific Reports|September 24, 2023
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsiesMaria Sofia Falzarano, Martina Mietto, Fernanda Fortunato, et al.
Gene|July 11, 2003
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormalityFrancesca Gualandi, Paola Rimessi, Barbara Cardazzo, et al.
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