Risultati ricerca pubblicazioni

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

pubblicato su: MOLECULAR GENETICS & GENOMIC MEDICINE - 2020

Traversa Alice, Marchionni Enrica, Giovannetti Agnese, Genovesi Maria L, Panzironi Noemi, Margiotti Katia, Napoli Giulia, Piceci Sparascio Francesca, De Luca Alessandro, Petrizzelli Francesco, Carella Massimo, Cardona Francesco, Bernardo Silvia, Manganaro Lucia, Mazza Tommaso, Pizzuti Antonio, Caputo Viviana

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

pubblicato su: MOLECULAR GENETICS & GENOMIC MEDICINE - 2019

Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi Ml, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A