Works by Barbetti, Fabrizio

Results: 60

A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 282, doi. 10.1159/000536621

By:

Pugnaloni, Flaminia;
Martini, Ludovica;
De Rose, Domenico Umberto;
Landolfo, Francesca;
Giliberti, Paola;
Ruta, Rosario;
Novelli, Antonio;
Rapini, Novella;
Barbetti, Fabrizio;
Toscano, Alessandra;
Conforti, Andrea;
Bagolan, Pietro;
Capolupo, Irma;
Dotta, Andrea

Publication type:

Article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 22, doi. 10.1002/humu.20124

By:

Massa, Ornella;
Iafusco, Dario;
D'Amato, Elena;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Pasquino, Bruno;
Tonini, Giorgio;
Dammacco, Francesco;
Zanette, Giorgio;
Meschi, Franco;
Porzio, Ottavia;
Bottazzo, Gianfranco;
Crinó, Antonino;
Lorini, Renata;
Cerutti, Franco;
Vanelli, Maurizio;
Barbetti, Fabrizio

Publication type:

Article

A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.

Published in:

Diabetic Medicine, 2024, v. 41, n. 2, p. 1, doi. 10.1111/dme.15202

By:

Pezzino, Giulia;
Ruta, Rosario;
Rapini, Novella;
Chiodo, Danilo Castellano;
Mucciolo, Mafalda;
Tomaselli, Letizia;
Cianfarani, Stefano;
Barbetti, Fabrizio

Publication type:

Article

Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.

Published in:

Nature Medicine, 2005, v. 11, n. 7, p. 765, doi. 10.1038/nm1254

By:

Foti, Daniela;
Chiefari, Eusebio;
Fedele, Monica;
Iuliano, Rodolfo;
Brunetti, Leonardo;
Paonessa, Francesco;
Manfioletti, Guidalberto;
Barbetti, Fabrizio;
Brunetti, Arturo;
Croce, Carlo M.;
Fusco, Alfredo;
Brunetti, Antonio

Publication type:

Article

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Published in:

2008

By:

Koster, Joseph C;
Cadario, Francesco;
Peruzzi, Cinzia;
Colombo, Carlo;
Nichols, Colin G;
Barbetti, Fabrizio

Publication type:

journal article

Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation.

Published in:

Diabetologia, 2021, v. 64, n. 7, p. 1703, doi. 10.1007/s00125-021-05454-y

By:

Iafusco, Dario;
Zanfardino, Angela;
Piscopo, Alessia;
Casaburo, Francesca;
De Nigris, Angelica;
Alfiero, Salvatore;
Russo, Giuseppina;
Arenella, Mattia;
Russo, Maria Cecilia;
Barbetti, Fabrizio

Publication type:

Article

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF).

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079933

By:

Pinelli, Michele;
Acquaviva, Fabio;
Barbetti, Fabrizio;
Caredda, Elisabetta;
Cocozza, Sergio;
Delvecchio, Maurizio;
Mozzillo, Enza;
Pirozzi, Daniele;
Prisco, Francesco;
Rabbone, Ivana;
Sacchetti, Lucia;
Tinto, Nadia;
Toni, Sonia;
Zucchini, Stefano;
Iafusco, Dario

Publication type:

Article

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063758

By:

Lin, Yu-Wen;
Li, Anlong;
Grasso, Valeria;
Battaglia, Domenica;
Crinò, Antonino;
Colombo, Carlo;
Barbetti, Fabrizio;
Nichols, Colin G.

Publication type:

Article

Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport.

Published in:

PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013333

By:

Ming Liu;
Haataja, Leena;
Wright, Jordan;
Wickramasinghe, Nalinda P.;
Qing-Xin Hua;
Phillips, Nelson F.;
Barbetti, Fabrizio;
Weiss, Michael A.;
Arvan, Peter

Publication type:

Article

Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient.

Published in:

FASEB Journal, 2002, v. 16, n. 11, p. 1371, doi. 10.1096/fj.01-0689com

By:

BERNASSOLA, FRANCESCA;
FEDERICI, MASSIMO;
CORAZZARI, MARCO;
TERRINONI, ALESSANDRO;
HRIBAL, MARTA L.;
DE LAURENZI, VINCENZO;
RANALLI, MARCO;
MASSA, ORNELLA;
SESTI, GIORGIO;
MCLEAN, W.H. IRWIN;
CITRO, GENNARO;
BARBETTI, FABRIZIO;
MELINO, GERRY

Publication type:

Article

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Published in:

2002

By:

Christesen, Henrik B T;
Jacobsen, Bendt B;
Odili, Stella;
Buettger, Carol;
Cuesta-Munoz, Antonio;
Hansen, Torben;
Brusgaard, Klaus;
Massa, Ornella;
Magnuson, Mark A;
Shiota, Chiyo;
Matschinsky, Franz M;
Barbetti, Fabrizio

Publication type:

journal article

Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients.

Published in:

1999

By:

Hansen, Lars;
Fjordvang, Helle;
Rasmussen, Soren K.;
Vestergaard, Henrik;
Echwald, Soren M.;
Hansen, Torben;
Alessi, Dario;
Shenolikar, Shirish;
Saltiel, Alan R.;
Barbetti, Fabrizio;
Pedersen, Oluf;
Hansen, L;
Fjordvang, H;
Rasmussen, S K;
Vestergaard, H;
Echwald, S M;
Hansen, T;
Alessi, D;
Shenolikar, S;
Saltiel, A R

Publication type:

journal article

Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.

Published in:

1998

By:

D'Adamo, Monica;
Buongiorno, Angela;
Maroccia, Ettore;
Leonetti, Frida;
Barbetti, Fabrizio;
Giaccari, Andrea;
Zorretta, Domenico;
Tamburrano, Guido;
Sbraccia, Paolo;
D'Adamo, M;
Buongiorno, A;
Maroccia, E;
Leonetti, F;
Barbetti, F;
Giaccari, A;
Zorretta, D;
Tamburrano, G;
Sbraccia, P

Publication type:

journal article

Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.

Published in:

1992

By:

Barbetti, Fabrizio;
Gejman, Pablo V.;
Taylor, Simeon I.;
Raben, Nina;
Cama, Alessandro;
Bonora, Enzo;
Pizzo, Paolo;
Moghetti, Paolo;
Muggeo, Michele;
Roth, Jesse;
Barbetti, F;
Gejman, P V;
Taylor, S I;
Raben, N;
Cama, A;
Bonora, E;
Pizzo, P;
Moghetti, P;
Muggeo, M;
Roth, J

Publication type:

journal article

Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes.

Published in:

1991

By:

Raben, Nina;
Barbetti, Fabrizio;
Cama, Alessandro;
Lesniak, Maxine A.;
Lillioja, Stephen;
Zimmet, Paul;
Serjeantson, Sue W.;
Taylor, Simeon I.;
Roth, Jesse;
Raben, N;
Barbetti, F;
Cama, A;
Lesniak, M A;
Lillioja, S;
Zimmet, P;
Serjeantson, S W;
Taylor, S I;
Roth, J

Publication type:

journal article

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 8, p. 1188, doi. 10.1111/pedi.13426

By:

Greeley, Siri Atma W.;
Polak, Michel;
Njølstad, Pål R.;
Barbetti, Fabrizio;
Williams, Rachel;
Castano, Luis;
Raile, Klemens;
Chi, Dung Vu;
Habeb, Abdelhadi;
Hattersley, Andrew T.;
Codner, Ethel

Publication type:

Article

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous <italic>INSR</italic> mutation.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 4, p. 670, doi. 10.1111/pedi.12632

By:

Innaurato, Stefania;
Brierley, Gemma V.;
Grasso, Valeria;
Massimi, Arianna;
Gaudino, Rossella;
Sileno, Sara;
Bernardini, Sergio;
Semple, Robert;
Barbetti, Fabrizio

Publication type:

Article

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/ S225T, del226-232 mutation.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 8, p. 656, doi. 10.1111/j.1399-5448.2012.00874.x

By:

Battaglia, Domenica;
Lin, Yu-Wen;
Brogna, Claudia;
Crinò, Antonino;
Grasso, Valeria;
Mozzi, Alessia F;
Russo, Lucia;
Spera, Sabrina;
Colombo, Carlo;
Ricci, Stefano;
Nichols, Colin G;
Mercuri, Eugenio;
Barbetti, Fabrizio

Publication type:

Article

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

Published in:

Pediatric Diabetes, 2010, v. 11, n. 1, p. 47, doi. 10.1111/j.1399-5448.2009.00527.x

By:

Brufani, Claudia;
Ciampalini, Paolo;
Grossi, Armando;
Fiori, Rossana;
Fintini, Danilo;
Tozzi, Alberto;
Cappa, Marco;
Barbetti, Fabrizio

Publication type:

Article

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

Published in:

Clinical Endocrinology, 2014, v. 81, n. 5, p. 679, doi. 10.1111/cen.12400

By:

Maiorana, Arianna;
Barbetti, Fabrizio;
Boiani, Arianna;
Rufini, Vittoria;
Pizzoferro, Milena;
Francalanci, Paola;
Faletra, Flavio;
Nichols, Colin G.;
Grimaldi, Chiara;
Ville de Goyet, Jean;
Rahier, Jacques;
Henquin, Jean‐Claude;
Dionisi‐Vici, Carlo

Publication type:

Article

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Published in:

2008

By:

Colombo, Carlo;
Porzio, Ottavia;
Ming Liu;
Massa, Ornella;
Vasta, Mario;
Salardi, Silvana;
Beccaria, Luciano;
Monciotti, Carla;
Toni, Sonia;
Pedersen, Oluf;
Hansen, Torben;
Federici, Luca;
Pesavento, Roberta;
Cadario, Francesco;
Federici, Giorgio;
Ghirri, Paolo;
Arvan, Peter;
Iafusco, Dario;
Barbetti, Fabrizio;
Liu, Ming

Publication type:

journal article

Type 2 diabetes in pediatrics.

Published in:

Minerva Pediatrics, 2021, v. 73, n. 6, p. 549, doi. 10.23736/S2724-5276.21.06530-7

By:

FORNARI, Elena;
BARBETTI, Fabrizio;
IAFUSCO, Dario;
LOMBARDO, Fortunato;
MIRAGLIA DAL GIUDICE, Emanuele;
RABBONE, Ivana;
MOZZILLO, Enza

Publication type:

Article

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Published in:

2015

By:

Maiorana, Arianna;
Manganozzi, Lucilla;
Barbetti, Fabrizio;
Bernabei, Silvia;
Gallo, Giorgia;
Cusmai, Raffaella;
Caviglia, Stefania;
Dionisi-Vici, Carlo

Publication type:

journal article

Mutations in the Insulin Receptor Gene in Patients with Genetic Syndromes of Insulin Resistance and Acanthosis Nigricans.

Published in:

Journal of Investigative Dermatology, 1992, v. 98, n. 6, p. 77S, doi. 10.1111/1523-1747.ep12462281

By:

Accili, Domenico;
Barbetti, Fabrizio;
Cama, Alessandro;
Kadowaki, Hiroko;
Kadowaki, Takashi;
Imano, Eiichi;
Levy-Toledano, Rachel;
Taylor, Simeon I.

Publication type:

Article

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.

Published in:

Acta Diabetologica, 2023, v. 60, n. 7, p. 989, doi. 10.1007/s00592-023-02065-4

By:

Silvestri, Francesca;
Tromba, Valeria;
Schiaffini, Riccardo;
Costantino, Francesco;
Barbetti, Fabrizio;
Prudente, Sabrina

Publication type:

Article

Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.

Published in:

2023

By:

Rapini, Novella;
Patera, Patrizia I.;
Schiaffini, Riccardo;
Ciampalini, Paolo;
Pampanini, Valentina;
Cristina, Matteoli M.;
Deodati, Annalisa;
Bracaglia, Giorgia;
Porzio, Ottavia;
Ruta, Rosario;
Novelli, Antonio;
Mucciolo, Mafalda;
Cianfarani, Stefano;
Barbetti, Fabrizio

Publication type:

Correction Notice

Monogenic diabetes clinic (MDC): 3-year experience.

Published in:

Acta Diabetologica, 2023, v. 60, n. 1, p. 61, doi. 10.1007/s00592-022-01972-2

By:

Rapini, Novella;
Patera, Patrizia I.;
Schiaffini, Riccardo;
Ciampalini, Paolo;
Pampanini, Valentina;
Cristina, Matteoli M.;
Deodati, Annalisa;
Bracaglia, Giorgia;
Porzio, Ottavia;
Ruta, Rosario;
Novelli, Antonio;
Mucciolo, Mafalda;
Cianfarani, Stefano;
Barbetti, Fabrizio

Publication type:

Article

Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients.

Published in:

Acta Diabetologica, 2022, v. 59, n. 8, p. 1113, doi. 10.1007/s00592-022-01889-w

By:

Prudente, Sabrina;
Andreozzi, Francesco;
Mercuri, Luana;
Alberico, Federica;
Di Giamberardino, Alessandra;
Mannino, Gaia Chiara;
Ludovico, Ornella;
Piscitelli, Pamela;
Di Paola, Rosa;
Morano, Susanna;
Penno, Giuseppe;
Carella, Massimo;
De Cosmo, Salvatore;
Trischitta, Vincenzo;
Barbetti, Fabrizio

Publication type:

Article

Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.

Published in:

Acta Diabetologica, 2016, v. 53, n. 4, p. 559, doi. 10.1007/s00592-015-0828-7

By:

Rabbone, Ivana;
Barbetti, Fabrizio;
Marigliano, Marco;
Bonfanti, Riccardo;
Piccinno, Elvira;
Ortolani, Federica;
Ignaccolo, Giovanna;
Maffeis, Claudio;
Confetto, Santino;
Cerutti, Franco;
Zanfardino, Angela;
Iafusco, Dario

Publication type:

Article

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Published in:

Acta Diabetologica, 2016, v. 53, n. 3, p. 499, doi. 10.1007/s00592-015-0793-1

By:

Ortolani, Federica;
Piccinno, Elvira;
Grasso, Valeria;
Papadia, Francesco;
Panzeca, Rossana;
Cortese, Claudio;
Felappi, Barbara;
Tummolo, Albina;
Vendemiale, Marcella;
Barbetti, Fabrizio

Publication type:

Article

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Published in:

Acta Diabetologica, 2013, v. 50, n. 6, p. 951, doi. 10.1007/s00592-013-0490-x

By:

Grasso, Valeria;
Colombo, Carlo;
Favalli, Valeria;
Galderisi, Alfonso;
Rabbone, Ivana;
Gombos, Sara;
Bonora, Enzo;
Massa, Ornella;
Meschi, Franco;
Cerutti, Franco;
Iafusco, Dario;
Bonfanti, Riccardo;
Monciotti, Carla;
Barbetti, Fabrizio

Publication type:

Article

Neonatal diabetes mellitus around the world: Update 2024.

Published in:

Journal of Diabetes Investigation, 2024, v. 15, n. 12, p. 1711, doi. 10.1111/jdi.14312

By:

Barbetti, Fabrizio;
Deeb, Asma;
Suzuki, Shigeru

Publication type:

Article

Insulin: still a miracle after all these years.

Published in:

2019

By:

Barbetti, Fabrizio;
Taylor, Simeon I.

Publication type:

journal article

Obese Children with Low Birth Weight Demonstrate Impaired β-Cell Function during Oral Glucose Tolerance Test

Published in:

Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4448, doi. 10.1210/jc.2009-1079

By:

Brufani, Claudia;
Grossi, Armando;
Fintini, Danilo;
Tozzi, Alberto;
Nocerino, Valentina;
Patera, Patrizia Ippolita;
Ubertini, Graziamaria;
Porzio, Ottavia;
Barbetti, Fabrizio;
Cappa, Marco

Publication type:

Article

Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

Published in:

BMC Genetics, 2006, v. 7, p. 1

By:

Sentinelli, Federica;
Romeo, Stefano;
Barbetti, Fabrizio;
Berni, Andrea;
Filippi, Emanuela;
Fanelli, Marzia;
Fallarino, Mara;
Baroni, Marco G

Publication type:

Article

Editorial: Personalized therapies for monogenic diabetes.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367

By:

Delvecchio, Maurizio;
Ming Liu;
Rapini, Novella;
Barbetti, Fabrizio

Publication type:

Article

Editorial: Personalized therapies for monogenic diabetes.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367

By:

Delvecchio, Maurizio;
Ming Liu;
Rapini, Novella;
Barbetti, Fabrizio

Publication type:

Article

Editorial: Personalized therapies for monogenic diabetes.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367

By:

Delvecchio, Maurizio;
Ming Liu;
Rapini, Novella;
Barbetti, Fabrizio

Publication type:

Article

The application of precision medicine in monogenic diabetes.

Published in:

Expert Review of Endocrinology & Metabolism, 2022, v. 17, n. 2, p. 111, doi. 10.1080/17446651.2022.2035216

By:

Barbetti, Fabrizio;
Rapini, Novella;
Schiaffini, Riccardo;
Bizzarri, Carla;
Cianfarani, Stefano

Publication type:

Article

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.

Published in:

2021

By:

Bowman, Pamela;
Mathews, Frances;
Barbetti, Fabrizio;
Shepherd, Maggie H.;
Sanchez, Janine;
Piccini, Barbara;
Beltrand, Jacques;
Letourneau-Freiberg, Lisa R.;
Polak, Michel;
Greeley, Siri Atma W.;
Rawlins, Eamon;
Babiker, Tarig;
Thomas, Nicholas J.;
De Franco, Elisa;
Ellard, Sian;
Flanagan, Sarah E.;
Hattersley, Andrew T.;
Mohsin, Fauzia;
Cummings, Elizabeth;
LeGault, Laurent

Publication type:

journal article

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.

Published in:

Diabetes Care, 2014, v. 37, n. 12, p. e258, doi. 10.2337/dc14-1788

By:

Delvecchio, Maurizio;
Ludovico, Ornella;
Menzaghi, Claudia;
Di Paola, Rosa;
Zelante, Leopoldo;
Marucci, Antonella;
Grasso, Valeria;
Trischitta, Vincenzo;
Carella, Massimo;
Barbetti, Fabrizio

Publication type:

Article

No Sign of Proliferative Retinopathy in 15 Patients With Permanent Neonatal Diabetes With a Median Diabetes Duration of 24 Years.

Published in:

Diabetes Care, 2014, v. 37, n. 8, p. e181, doi. 10.2337/dc14-0471

By:

Iafusco, Dario;
Salardi, Silvana;
Chiari, Giovanni;
Toni, Sonia;
Rabbone, Ivana;
Pesavento, Roberta;
Pasquino, Bruno;
de Benedictis, Antonella;
Maltoni, Giulio;
Colombo, Carlo;
Russo, Lucia;
Massa, Ornella;
Sudano, Maurizio;
Cadario, Francesco;
Porta, Massimo;
Barbetti, Fabrizio

Publication type:

Article

Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:.

Published in:

Diabetes Care, 2009, v. 32, n. 10, p. 1864, doi. 10.2337/dc08-2018

By:

Lorini, Renata;
Klersy, Catherine;
D'Annunzio, Giuseppe;
Massa, Ornella;
Minuto, Nicola;
Iafusco, Dario;
Bellannè-Chantelot, Christine;
Frongia, Anna Paola;
Toni, Sonia;
Meschi, Franco;
Cerutti, Franco;
Barbetti, Fabrizio

Publication type:

Article

Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies.

Published in:

Diabetes Care, 2009, v. 32, n. 1, p. 123, doi. 10.2337/dc08-0783

By:

Bonfanti, Riccardo;
Colombo, Carlo;
Nocerino, Valentina;
Massa, Ornella;
Lampasona, Vito;
Iafusco, Dario;
Viscardi, Matteo;
Chiumello, Giuseppe;
Meschi, Franco;
Barbetti, Fabrizio

Publication type:

Article

The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50673-4

By:

Mascolo, Elisa;
Barile, Anna;
Mecarelli, Lorenzo Stufera;
Amoroso, Noemi;
Merigliano, Chiara;
Massimi, Arianna;
Saggio, Isabella;
Hansen, Torben;
Tramonti, Angela;
Di Salvo, Martino Luigi;
Barbetti, Fabrizio;
Contestabile, Roberto;
Vernì, Fiammetta

Publication type:

Article

Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.

Published in:

Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 215, doi. 10.1159/000521858

By:

McClenaghan, Conor;
Rapini, Novella;
De Rose, Domenico Umberto;
Gao, Jian;
Roeglin, Jacob;
Bizzarri, Carla;
Schiaffini, Riccardo;
Tiberi, Eloisa;
Mucciolo, Mafalda;
Deodati, Annalisa;
Perri, Alessandro;
Vento, Giovanni;
Barbetti, Fabrizio;
Nichols, Colin G.;
Cianfarani, Stefano

Publication type:

Article

IGF2 Methylation Is Associated with Lipid Profile in Obese Children.

Published in:

Hormone Research in Paediatrics, 2013, v. 79, n. 6, p. 361, doi. 10.1159/000351707

By:

Deodati, annalisa;
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