Found: 22
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An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 3, p. 260, doi. 10.4274/jcrpe.4624
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- Publication type:
- Article
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 3, p. 680, doi. 10.1210/clinem/dgac604
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- Publication type:
- Article
Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 2, p. 105, doi. 10.1007/s13312-022-2438-0
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- Publication type:
- Article
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.
- Published in:
- 2015
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- Publication type:
- Case Study
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 61, doi. 10.1038/ng.2826
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- Publication type:
- Article
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
- Published in:
- Diabetologia, 2023, v. 66, n. 11, p. 1997, doi. 10.1007/s00125-023-05982-9
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- Publication type:
- Article
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2020, v. 21, n. 4, p. 577, doi. 10.1007/s11154-020-09548-7
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- Publication type:
- Article
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac033
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- Publication type:
- Article
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 4, p. 417, doi. 10.1530/EJE-21-0897
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- Publication type:
- Article
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 6, p. 813, doi. 10.1530/EJE-21-0476
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- Publication type:
- Article
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 6, p. 697, doi. 10.1530/EJE-14-0852
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- Publication type:
- Article
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.727083
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- Publication type:
- Article
Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.665336
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- Publication type:
- Article
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228417
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- Publication type:
- Article
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 7, p. 958, doi. 10.1093/clinchem/hvaa104
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- Publication type:
- Article
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 10, p. 884, doi. 10.1002/ccr3.370
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- Publication type:
- Article
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 4, p. 457, doi. 10.1111/pedi.13333
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- Publication type:
- Article
Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2021.665336
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- Publication type:
- Article
Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
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- Publication type:
- Article
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 5, p. 621, doi. 10.1111/cen.13841
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- Publication type:
- Article
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
- Published in:
- 2016
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- Publication type:
- journal article
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article