title: Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.
authors.affiliation: Pediatrics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy mdelvecchio75@gmail.com fabrizio.barbetti@uniroma2.it.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Delvecchio
authors.affiliation: Endocrine Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Ornella
authors.initials: O
authors.lastname: Ludovico
authors.affiliation: Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Menzaghi
authors.affiliation: Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Di Paola
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.affiliation: Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Marucci
authors.affiliation: Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Grasso
authors.affiliation: Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Trischitta
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.affiliation: Bambino Gesù Children's Hospital, IRCCS, Rome, Italy Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy mdelvecchio75@gmail.com fabrizio.barbetti@uniroma2.it.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Barbetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Gallo
authors.forename: Maria Susanna
authors.initials: MS
authors.lastname: Coccioli
authors.forename: Clara
authors.initials: C
authors.lastname: Zecchino
authors.forename: Maria Felicia
authors.initials: MF
authors.lastname: Faienza
authors.forename: Giuliana
authors.initials: G
authors.lastname: Cardinale
authors.forename: Adriana
authors.initials: A
authors.lastname: Franzese
authors.forename: Enza
authors.initials: E
authors.lastname: Mozzillo
authors.forename: Dario
authors.initials: D
authors.lastname: Iafusco
authors.forename: Angela
authors.initials: A
authors.lastname: Zanfardino
mesh_terms: D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005941:Glucokinase / Q000235:genetics; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006761:Hospitals; D006801:Humans; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D015534:Trans-Activators / Q000235:genetics
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D005941:Glucokinase; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D051557:Hepatocyte Nuclear Factor 4; D018398:Homeodomain Proteins; D015534:Trans-Activators; C496487:HNF1A protein, human; C496495:HNF1B protein, human; C496592:HNF4A protein, human; C093970:NEUROD1 protein, human; C084010:pancreatic and duodenal homeobox 1 protein