Results 31 to 40 of about 177,423,405 (278)

A gyermekkori 1-es típusú diabétesz genetikai és humorális immunológiai hátterének vizsgálata = Genetic and humoral immunologic determinants of childhood-onset type 1 diabetes [PDF]

, 2007
Az OTKA pályázat munkatervében kitűzött célok megvalósultak. A program az elmúlt három év alatt országos diabetes genetikai projektté nőtte ki magát (HUN-T1D-GENES program; www.diabet.hu/ diabetesgenetics).
Hermann, Róbert, Soltész, Gyula
core   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
core   +1 more source

ANALYSIS OF MICRORNA EXPRESSION PATTERN IN SMALL INTESTINE OF CELIAC PATIENTS [PDF]

, 2010
Celiac disease (CD) is a chronic inflammatory disease characterized by small intestinal mucosal injury and nutrient malabsorption in genetically susceptible individuals following the dietary ingestion of gluten1.
Capuano, Marina
core   +1 more source

Genetic variants and characterization of MODY in a single, large pediatric referral center

Journal of Clinical & Translational Endocrinology
Background: Identifying Maturity-onset diabetes of the young (MODY) is essential as treatment differs from other forms of diabetes. Clinical characteristics and MODY probability calculator (MPC) scores were evaluated in patients with MODY.
Lily Deng, Amy S. Shah, Mansa Krishnamurthy   +2 more
doaj   +1 more source

From Misdiagnosis to Precision: Genetic Testing Reveals MODY in Adolescents Initially Treated as Type 1 Diabetes [PDF]

Journal of Clinical and Diagnostic Research
Maturity-Onset Diabetes of the Young (MODY) is a heterogeneous form of clinical monogenic diabetes caused by genetic abnormalities resulting in an autosomal dominant mode of inheritance.
Kumar Ajith, Varalakshmi Sureka, J Jayannan, Purushothaman Indu   +3 more
doaj   +1 more source

Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young. [PDF]

Front Endocrinol (Lausanne)
Dzhemileva LU, Zakharova EN, Goncharenko AO, Vorontsova MV, Rumyantsev SA, Mokrysheva NG, Loguinova MY, Chekhonin VP.   +7 more
europepmc   +2 more sources

A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.

, 2003
Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non-insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15-
Benmezroua, Y, Rao, PS, Lindgren, Cecilia,, Lindgren, Cecilia M, Menzel, Stephan, Rao, Pamidghantam Subba, Almgren, Peter,, Groop, Leif,, Pedersen, Oluf, Cognet, I, Chevre, Jean Claude, Almgren, Peter, Almgren, P, Cognet, Ignacio, Tuomi, Tiinamaija,, Wright-Pascoe, Rosemarie, Wright-Pascoe, R, Wang, Youxiang, Bulman, MP, Menzel, S, Tuomi, T, Hattersley, Andrew T., Mills, J, Wishart, M, Vaxillaire, Martine, Evans, Julie C, Hattersley, Andrew T, Lindgren, CM, Kanninen, Timo, Groop, LC, Mills, James, Prisco, Francesco, Hansen, Torben, Evans, JC, Costa, A, Dina, Christian, Dina, C, Lund University., Mahtani, Melanie M., Ellard, Sian, Froguel, Philippe, Vaxillaire, M, Hattersley, AT, Hansen, T, Brown, A, Lindgren, Cecilia, Pedersen, O, Bulman, Michael P., Lecoeur, Cécile, Frayling, Timothy M., Costa, Angels, Benmezroua, Yamina, Prisco, F, Groop, Leif C, Wang, Y, Evans, Julie C., Lecoeur, C, Bulman, Michael P, Groop, Leif, Wishart, Marie, Mahtani, MM, Chevre, JC, Frayling, Timothy M, Mahtani, Melanie M, Ellard, S, Frayling, TM, Kanninen, T, Froguel, P, Brown, Alison, Tuomi, Tiinamaija   +69 more
core   +1 more source

Prevalence of Obesity and Dyslipidemia in Maturity Onset Diabetes of the Young Patients

Endocrinology Research and Practice
Objective: Maturity-onset diabetes of the young (MODY) is an uncommon type of diabetes distinct from type 1 and type 2 diabetes. Diagnosis often depends on clinical suspicion, and misdiagnosis may lead to inappropriate treatment.
Murat Calapkulu, İlknur Öztürk Ünsal, Muhammed Erkam Sencar, Davut Sakiz, Mustafa Ozbek, Erman Cakal   +5 more
doaj   +1 more source

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

International Journal of Pediatrics & Adolescent Medicine, 2022
Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early ...
Said Trhanint, Laila Bouguenouch, Sana Abourazzak, Hanan El Ouahabi, Hanane Latrech, Salma Benyakhlef, Bahia Bennani, Ihssane El Bouchikhi, Fatima Zahra Moufid, Karim Ouldim, Lahsen El Ghadraoui, Nadia Maazouzi   +11 more
doaj   +1 more source

Maturity-Onset Diabetes of the Young (MODY)

The Journal of Korean Diabetes, 2022
Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field of diabetes, especially for monogenic diabetes. Maturityonset diabetes of the young (MODY) is a type of monogenic diabetes characterized by early onset, relative non-obesity, non-insulin dependence, and
Seung Shin Park, Soo Heon Kwak
openaire   +1 more source