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European Journal of Pediatrics|January 21, 2010
Array CGH defined interstitial deletion on chromosome 14: a new caseMaria Piccione, Vincenzo Antona, Valeria Scavone, et al.
European Journal of Human Genetics : EJHG|September 26, 2013
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutationsMaria Teresa Ricci, Loredana Pennese, Viviana Gismondi, et al.
Molecular and Cellular Probes|October 20, 2009
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotypeMarina Grasso, Massimiliano Cecconi, Stefania Boni, et al.
BMC Medical Genetics|August 7, 2013
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic settingValentina Gatta, Elena Gennaro, Sara Franchi, et al.
The Journal of Molecular Diagnostics : JMD|April 12, 2008
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotypeMassimiliano Cecconi, Francesca Forzano, Rosanna Rinaldi, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlationGiovanni Corsello, Emanuela Salzano, Davide Vecchio, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephalyMaria Piccione, Gregorio Serra, Valeria Consiglio, et al.
Frontiers in Genetics|November 20, 2018
FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the <i>FMR1</i> GeneEsperanza Fernández, Elena Gennaro, Filomena Pirozzi, et al.
Genetic Testing|May 3, 2008
The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year surveyVincenzo Falbo, Giovanna Floridia, Fabrizio Tosto, et al.
Genes|February 25, 2023
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos SyndromeBarbara Testa, Giuseppina Conteduca, Marina Grasso, et al.
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