F
Franca Dagna Bricarelli
Publications - 2
Citations - 1666
Franca Dagna Bricarelli is an academic researcher. The author has contributed to research in topics: Campomelic dysplasia & Sex reversal. The author has an hindex of 2, co-authored 2 publications receiving 1612 citations.
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Journal ArticleDOI
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
Thomas Wagner,J. Wirth,Jobst Meyer,Bernhard Zabel,Marika Held,J. Zimmer,Juan J. Pasantes,Juan J. Pasantes,Franca Dagna Bricarelli,Jürgen Keutel,Elisabeth Hustert,Ulrich Wolf,Niels Tommerup,Werner Schempp,Gerd Scherer +14 more
TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.
Journal ArticleDOI
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations
Jobst Meyer,Peter Südbeck,Marika Held,Thomas Wagner,M. Lienhard Schmitz,Franca Dagna Bricarelli,Ephrem Eggermont,Ursula Friedrich,Oskar A. Haas,Albrecht Kobelt,Jules G. Leroy,Lionel Van Maldergem,Erik Michel,Beate Mitulla,Rudolf A. Pfeiffer,Albert Schinzel,Heinrich Schmidt,Gerd Scherer +17 more
TL;DR: Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance and instability of the mutant SOX9 protein as demonstrated by Western blotting.