C. Colombo

发表

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation

C. Nichols, J. Koster, C. Dionisi-Vici, 2010, Diabetes.

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

C. Nichols, R. Schiaffini, F. Meschi, 2011, Acta Diabetologica.

Opposite Clinical Phenotypes of Glucokinase Disease: Description of a Novel Activating Mutation and Contiguous Inactivating Mutations in Human Glucokinase (GCK) Gene

J. C. Aledo, C. Dionisi-Vici, L. Lenzi, 2009 .

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

J. C. Aledo, F. Bermúdez-Silva, F. Rodríguez de Fonseca, 2009, Molecular endocrinology.

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation

F. Barbetti, C. Colombo, M. Delvecchio, 2005, Diabetologia.

Opposite Effects of Background Genotype on Muscle and Liver Insulin Sensitivity of Lipoatrophic Mice

M. Reitman, O. Gavrilova, B. Marcus-Samuels, 2003, The Journal of Biological Chemistry.

Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene

F. Barbetti, C. Colombo, T. Suprani, 2011, Journal of endocrinological investigation.

Transplantation of adipose tissue lacking leptin is unable to reverse the metabolic abnormalities associated with lipoatrophy.

M. Reitman, O. Gavrilova, C. Vinson, 2002, Diabetes.

Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood‐onset diabetes

R. Bonfanti, D. Iafusco, F. Barbetti, 2009, Diabetic medicine : a journal of the British Diabetic Association.

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

F. Cadario, M. Porta, G. Maltoni, 2014, Diabetes Care.

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

F. Cerutti, E. Bonora, I. Rabbone, 2013, Acta Diabetologica.

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early‐onset type 2 diabetes

T. Hansen, O. Pedersen, P. Froguel, 2007, Human mutation.

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young

F. Barbetti, C. Colombo, O. Massa, 2001, Journal of Molecular Medicine.

FM in der Spitalhygiene : past – present – future

H. Sax, H. Füchslin, C. Colombo, 2016 .

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

F. Cadario, C. Nichols, J. Koster, 2008, The Journal of clinical endocrinology and metabolism.

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

T. Hansen, O. Pedersen, L. Federici, 2008, The Journal of clinical investigation.

Permanent diabetes during the first year of life: multiple gene screening in 54 patients

F. Cerutti, L. Aguilar-Bryan, M. Stazi, 2011, Diabetologia.

Genetic background (C57BL/6J versus FVB/N) strongly influences the severity of diabetes and insulin resistance in ob/ob mice.

M. Reitman, O. Gavrilova, S. Chua, 2004, Endocrinology.

An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes

C. Nichols, F. Chiarelli, J. Koster, 2007, Diabetes.

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

Anlong Li, C. Nichols, A. Crinò, 2013, PloS one.

Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?

P. Arvan, S. Bernardini, C. Cras-Méneur, 2016, Clinical Diabetes and Endocrinology.

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

F. Meschi, M. Viscardi, R. Bonfanti, 2009, Diabetes Care.

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

E. Mercuri, C. Nichols, S. Ricci, 2012, Pediatric diabetes.

No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

F. Cadario, S. Tumini, R. Bonfanti, 2011, Diabetologia.

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

F. Bermúdez-Silva, F. Rodríguez de Fonseca, C. Dionisi-Vici, 2009, Molecular endocrinology.

Opposite Clinical Phenotypes of “Glucokinase Disease”: Description of a Novel Activating Mutation and Contiguous Inactivating Mutations in Human Glucokinase Gene

C. Dionisi-Vici, L. Lenzi, S. Toni, 2009 .