Found: 34
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RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.
- Published in:
- Diabetologia, 2024, v. 67, n. 8, p. 1642, doi. 10.1007/s00125-024-06163-y
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- Article
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
- Published in:
- Diabetologia, 2023, v. 66, n. 3, p. 438, doi. 10.1007/s00125-022-05834-y
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- Article
Correction to: A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.
- Published in:
- 2022
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- Publication type:
- Correction Notice
A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.
- Published in:
- Diabetologia, 2022, v. 65, n. 4, p. 632, doi. 10.1007/s00125-021-05631-z
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- Publication type:
- Article
During an 18‐month course of automated insulin delivery treatment, children aged 2 to 6 years achieve and maintain a higher time in tight range.
- Published in:
- Diabetes, Obesity & Metabolism, 2024, v. 26, n. 6, p. 2431, doi. 10.1111/dom.15562
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- Publication type:
- Article
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188750
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- Publication type:
- Article
Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.
- Published in:
- 2019
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- Publication type:
- journal article
Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.
- Published in:
- 2017
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- Publication type:
- journal article
First year on commercial hybrid closed‐loop system—experience on 111 children and adolescents with type 1 diabetes.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 6, p. 909, doi. 10.1111/pedi.13235
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- Publication type:
- Article
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00895-9
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- Publication type:
- Article
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00194
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- Publication type:
- Article
Downregulation of EGF Receptor Signaling in Pancreatic Islets Causes Diabetes Due to Impaired Postnatal β-Cell Growth.
- Published in:
- Diabetes, 2006, v. 55, n. 12, p. 3299, doi. 10.2337/db06-0413
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- Publication type:
- Article
Central precocious puberty in boys: secular trend and clinical features.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 3, p. 211, doi. 10.1093/ejendo/lvae021
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- Publication type:
- Article
Pancreatic imaging in MEN1--comparison of conventional and somatostatin receptor positron emission tomography/computed tomography imaging in real-life setting.
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- European Journal of Endocrinology, 2023, v. 188, n. 5, p. 421, doi. 10.1093/ejendo/lvad035
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- Publication type:
- Article
Circulating miR-30b levels increase during male puberty.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 5, p. K11, doi. 10.1530/EJE-20-1307
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- Publication type:
- Article
Etiology of severe short stature below -3 SDS in a screened Finnish population.
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- European Journal of Endocrinology, 2020, v. 183, n. 5, p. 481, doi. 10.1530/EJE-20-0313
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- Publication type:
- Article
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
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- Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 6, p. 1748, doi. 10.1210/clinem/dgaa078
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- Publication type:
- Article
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
- Published in:
- 2020
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- Publication type:
- journal article
EGFR Signaling Promotes β-Cell Proliferation and Survivin Expression during Pregnancy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093651
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- Publication type:
- Article
Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 69, doi. 10.1038/8773
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- Publication type:
- Article
Health-related quality of life in boys with constitutional delay of growth and puberty.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1028828
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- Publication type:
- Article
Biliary Anomalies in Patients With HNF1B Diabetes.
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- Journal of Clinical Endocrinology & Metabolism, 2017, p. 2075, doi. 10.1210/jc.2017-00061
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- Publication type:
- Article
Biliary Anomalies in Patients With HNF1B Diabetes.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.
- Published in:
- 2016
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- Publication type:
- journal article
Health-related quality of life and self-reported health status in adolescents with chronic health conditions before transfer of care to adult health care: an international cohort study.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04629-x
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- Publication type:
- Article
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446
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- Publication type:
- Article
The effect of COVID-19 lockdown on the glycemic control of children with type 1 diabetes.
- Published in:
- 2022
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- Publication type:
- journal article
Circulating Liver-enriched Antimicrobial Peptide-2 Decreases During Male Puberty.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 3, p. 1, doi. 10.1210/jendso/bvac013
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- Publication type:
- Article
Gut microbiota develop towards an adult profile in a sex-specific manner during puberty.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02375-z
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- Publication type:
- Article
Early-Onset Diabetic E1-DN Mice Develop Albuminuria and Glomerular Injury Typical of Diabetic Nephropathy.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/102969
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- Publication type:
- Article
Onset and progression of puberty in Klinefelter syndrome.
- Published in:
- Clinical Endocrinology, 2022, v. 96, n. 3, p. 363, doi. 10.1111/cen.14588
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- Publication type:
- Article
Serum testosterone and oestradiol predict the growth response during puberty promoting treatment.
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- Clinical Endocrinology, 2022, v. 96, n. 2, p. 220, doi. 10.1111/cen.14605
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- Article
Bone structure assessed with pQCT in prepubertal males with delayed puberty or congenital hypogonadotropic hypogonadism.
- Published in:
- Clinical Endocrinology, 2021, v. 95, n. 1, p. 107, doi. 10.1111/cen.14466
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- Publication type:
- Article
Motivational Interviewing and Glycemic Control in Adolescents With Poorly Controlled Type 1 Diabetes: A Randomized Controlled Pilot Trial.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.639507
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- Publication type:
- Article