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Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 12, p. 2258, doi. 10.1210/js.2019-00260
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- Publication type:
- Article
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study.
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- Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 699, doi. 10.1210/js.2018-00417
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- Publication type:
- Article
Mutations in the VNTR of the carboxyl-ester lipase gene ( CEL) are a rare cause of monogenic diabetes.
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- Human Genetics, 2010, v. 127, n. 1, p. 55, doi. 10.1007/s00439-009-0740-8
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- Publication type:
- Article
The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay.
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- Human Genetics, 2005, v. 118, n. 2, p. 214, doi. 10.1007/s00439-005-0023-y
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- Publication type:
- Article
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
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- Human Genetics, 2000, v. 106, n. 6, p. 636, doi. 10.1007/s004390000311
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- Publication type:
- Article
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes.
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- Diabetic Medicine, 2011, v. 28, n. 9, p. 1028, doi. 10.1111/j.1464-5491.2011.03287.x
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- Article
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
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- Diabetic Medicine, 2003, v. 20, n. 10, p. 823, doi. 10.1046/j.1464-5491.2003.01034.x
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- Publication type:
- Article
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.
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- Clinical Kidney Journal, 2018, v. 11, n. 4, p. 453, doi. 10.1093/ckj/sfx150
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- Publication type:
- Article
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
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- Pediatric Nephrology, 2012, v. 27, n. 4, p. 581, doi. 10.1007/s00467-011-2046-z
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- Publication type:
- Article
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 6, p. 421, doi. 10.1159/000446153
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- Publication type:
- Article
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 206, doi. 10.1159/000435782
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- Publication type:
- Article
Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 190, doi. 10.1159/000369804
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- Publication type:
- Article
Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 137, doi. 10.1159/000354219
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- Publication type:
- Article
Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 287, doi. 10.1159/000284394
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- Article
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".
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- 2018
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- Publication type:
- letter
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
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- 2018
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- Publication type:
- journal article
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
- Published in:
- 2018
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- Publication type:
- journal article
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells.
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- 2017
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- Publication type:
- journal article
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
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- 2022
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- Publication type:
- journal article
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.
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- 2021
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- Publication type:
- journal article
Response to Comment on Misra et al. Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912.
- Published in:
- 2020
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- Publication type:
- letter
Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.
- Published in:
- 2020
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- Publication type:
- journal article
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.
- Published in:
- Diabetes Care, 2020, v. 43, n. 1, p. 82, doi. 10.2337/dc19-0747
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- Publication type:
- Article
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects. Diabetes Care 2017;40:1436-1443.
- Published in:
- 2018
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- Publication type:
- letter
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
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- 2017
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- Publication type:
- journal article
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
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- 2016
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- Publication type:
- journal article
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.
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- Diabetes Care, 2015, v. 38, n. 7, p. 1383, doi. 10.2337/dc14-2769
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- Publication type:
- Article
Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India.
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- Indian Pediatrics, 2017, v. 54, n. 6, p. 467, doi. 10.1007/s13312-017-1049-7
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- Publication type:
- Article
Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings.
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- Indian Pediatrics, 2016, v. 53, n. 10, p. 912, doi. 10.1007/s13312-016-0958-1
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- Publication type:
- Article
Permanent Neonatal Diabetes Caused by a Novel Mutation.
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- Indian Pediatrics, 2012, v. 49, n. 6, p. 486, doi. 10.1007/s13312-012-0093-6
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- Article
Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene.
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- Indian Pediatrics, 2011, v. 48, n. 9, p. 733
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- Article
Biomonitoring study of a group of workers potentially exposed to traffic fumes.
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- Environmental & Molecular Mutagenesis, 1997, v. 30, n. 2, p. 119, doi. 10.1002/(SICI)1098-2280(1997)30:2<119::AID-EM4>3.0.CO;2-I
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- Article
Use of multicolour chromosome painting to identify chromosomal rearrangements in human lymphocytes exposed to bleomycin: A comparison with conventional cytogenetic analysis of giemsa-stained chromosomes.
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- Environmental & Molecular Mutagenesis, 1995, v. 26, n. 1, p. 44, doi. 10.1002/em.2850260107
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- Article
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
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- Movement Disorders, 2024, v. 39, n. 1, p. 141, doi. 10.1002/mds.29651
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- Publication type:
- Article
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1565, doi. 10.1007/s00431-013-2110-8
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- Article
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
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- 2008
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- Publication type:
- journal article
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765
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- Article
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
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- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1319-1
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- Article
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 8, p. 943, doi. 10.1515/jpem-2018-0112
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- Publication type:
- Article
Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive <italic>INS</italic> gene mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 3, p. 345, doi. 10.1515/jpem-2017-0325
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- Publication type:
- Article
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 2, p. 195, doi. 10.1515/jpem-2017-0284
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- Publication type:
- Article
MODY in Ukraine: genes, clinical phenotypes and treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1095, doi. 10.1515/jpem-2017-0075
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- Publication type:
- Article
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 471, doi. 10.1515/jpem-2016-0345
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- Publication type:
- Article
Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 11/12, p. 1391, doi. 10.1515/jpem-2015-0094
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- Publication type:
- Article
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 11/12, p. 1279, doi. 10.1515/jpem-2015-0170
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- Publication type:
- Article
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1073, doi. 10.1515/jpem-2015-0033
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- Publication type:
- Article
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 695, doi. 10.1515/jpem-2014-0371
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- Publication type:
- Article
Three cases of Wolfram syndrome with different clinical aspects.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 3/4, p. 433, doi. 10.1515/jpem-2014-0139
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- Publication type:
- Article
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 3/4, p. 345, doi. 10.1515/jpem-2014-0265
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- Publication type:
- Article
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1065, doi. 10.1515/jpem-2014-0031
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- Publication type:
- Article