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Journal Article
Journal of pediatric endocrinology & metabolism : JPEM, ISSN 0334-018X, 09/2019, Volume 32, Issue 10, pp. 1147 - 1153
Background Paediatric type 1 diabetes (T1D) and rare syndromes of monogenic multi-organ autoimmunity share basic features such as full insulin dependency and... 
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2015, Volume 21, Issue 8, pp. 2550 - 2557
Hepatocyte nuclear factor 1-β(HNF1B)defects cause renal cysts and diabetes syndrome(RCAD),or HNF1B-maturity-onset diabetes of the young.However,the hepatic... 
Hepatocyte | and | 1-β;Renal | cysts | diab | nuclear | factor | Biliary atresia | Portoenterostomy | Maturity-onset diabetes of the young | Hepatocyte nuclear factor 1-β | Renal cysts and diabetes syndrome | DEFECTS | RENAL CYSTS | HNF1-BETA | LIVER-DISEASE | HEPATOCYTE NUCLEAR FACTOR-1-BETA | DELETION | YOUNG | Hepatocyte nuclear factor 1-beta | DYSFUNCTION | HNF-1-BETA | GASTROENTEROLOGY & HEPATOLOGY | EXPRESSION | renal cysts and diabetes syndrome | Central Nervous System Diseases - genetics | Cholestasis - genetics | Kidney Diseases, Cystic - diagnosis | Central Nervous System Diseases - complications | Diabetes Mellitus, Type 2 - genetics | Humans | Infant | Biliary Atresia - complications | Biliary Atresia - diagnosis | DNA Mutational Analysis | Kidney Diseases, Cystic - genetics | Female | Diabetes Mellitus, Type 2 - complications | Hepatocyte Nuclear Factor 1-beta - genetics | Infant, Newborn | Genetic Predisposition to Disease | Cholestasis - diagnosis | Treatment Outcome | Cholestasis - surgery | Birth Weight | Diabetes Mellitus, Type 2 - diagnosis | Phenotype | Portoenterostomy, Hepatic | Dental Enamel - abnormalities | Infant, Small for Gestational Age | Kidney Diseases, Cystic - complications | Central Nervous System Diseases - diagnosis | Cholangiopancreatography, Magnetic Resonance | Mutation | Biliary Atresia - genetics | Case Report
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2019
Familial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2017, Volume 102, Issue 2, pp. 460 - 469
Journal Article
Journal of Autoimmunity, ISSN 0896-8411, 2019, p. 102294
Background: The aberrant recognition of self-nucleic acids by the innate immune system contributes to the pathology of several autoimmune diseases. Although... 
Monocytes | TBK1 | Type 1 diabetes | DNA | Neutrophil extracellular traps | TLR9 | STING | Cytosolic DNA sensors
Journal Article
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, ISSN 0021-972X, 10/2019, Volume 104, Issue 10, pp. 4273 - 4281
Context: Familial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect... 
HORMONE DEFICIENCY | MANAGEMENT | GENOTYPE | MUTATION | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | RECEPTOR
Journal Article
Data in Brief, ISSN 2352-3409, 08/2019, Volume 25, p. 104321
Inflammasomes are large protein complexes involved in the maturation of IL-1β, a cytokine associated with the pathophysiology of type 1 diabetes (T1D). The... 
NLRP3 | Monocytes | Glybenclamide | Inflammasomes | Type 1 diabetes | DNA
Journal Article