Found: 39
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Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.
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- Acta Diabetologica, 2022, v. 59, n. 9, p. 1251, doi. 10.1007/s00592-022-01904-0
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- Article
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
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- Acta Diabetologica, 2019, v. 56, n. 4, p. 413, doi. 10.1007/s00592-018-01282-6
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- Article
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
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- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0204323
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- Article
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
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- 2019
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- Publication type:
- journal article
Effects of oral administration of ibutamoren mesylate, a nonpeptide growth hormone secretagogue, on the growth hormone-insulin-like growth factor I axis in growth hormone-deficient children<sup>*</sup>.
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- Clinical Pharmacology & Therapeutics, 2001, v. 70, n. 1, p. 91, doi. 10.1067/mcp.2001.116514
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- Article
G protein β interacts with the glucocorticoid receptor and suppresses its transcriptional activity in the nucleus.
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- Journal of Cell Biology, 2005, v. 169, n. 6, p. 885, doi. 10.1083/jcb.200409150
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- Article
Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8824, doi. 10.3390/ijms23158824
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- Article
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
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- 2019
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- Publication type:
- journal article
Partial deficiency of 17γ-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
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- European Journal of Endocrinology, 2015, v. 172, n. 5, p. K19, doi. 10.1530/EJE-14-0834
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- Article
Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 4, p. 272, doi. 10.1159/000510625
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- Article
A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 6, p. 450, doi. 10.1159/000481776
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- Article
Brx Mediates the Response of Lymphocytes to Osmotic Stress Through the Activation of NFAT5.
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- Science Signaling, 2009, v. 2, n. 57, p. 1, doi. 10.1126/scisignal.2000081
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- Article
The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 405, doi. 10.1515/jpem-2021-0464
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- Article
A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through SplicingMediated Decrease of mRNA.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. e3654, doi. 10.1210/clinem/dgac397
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- Article
Clinical Outcomes and Complications of Pituitary Blastoma.
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- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 351, doi. 10.1210/clinem/dgaa857
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- Article
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
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- Clinical Case Reports, 2019, v. 7, n. 12, p. 2355, doi. 10.1002/ccr3.2494
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- Article
Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene.
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- International Journal on Disability & Human Development (De Gruyter), 1999, v. 1, n. 2, p. 95, doi. 10.1515/ijdhd.1999.1.2.95
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- Article
A Novel Homozygous Mutation in CYP11A1 Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 3, p. 936, doi. 10.1210/jc.2008-1118
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- Article
A Familial Insulin-Like Growth Factor-I Receptor Mutant Leads to Short Stature: Clinical and Biochemical Characterization.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 4, p. 1542, doi. 10.1210/jc.2006-2354
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- Article
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
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- 2006
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- Publication type:
- journal article
Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 8, p. 4762, doi. 10.1210/jc.2005-0570
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- Article
A Potential Rearrangement between CYP19 and TRPM7 Genes on Chromosome 15q21.2 as a Cause of Aromatase Excess Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4184, doi. 10.1210/jc.2004-2176
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- Article
A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3696, doi. 10.1210/jc.2004-1920
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- Article
Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 4762, doi. 10.1210/jc.2005-0570
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- Publication type:
- Article
A Novel C-Terminal Growth Hormone Receptor (GHR) Mutation Results in Impaired GHR-STAT5 But Normal STAT-3 Signaling.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 542, doi. 10.1210/jc.2003-2133
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- Article
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
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- Clinical Endocrinology, 2005, v. 63, n. 1, p. 10, doi. 10.1111/j.1365-2265.2005.02291.x
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- Article
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1146768
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- Article
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1127173
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- Article
Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation.
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- 2016
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- journal article
Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.
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- 2016
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- journal article
A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.
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- 2015
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- Publication type:
- journal article
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
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- Clinical Diabetes & Endocrinology, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40842-020-00095-3
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- Article
Thirteen novel mutations in the NR0B1 ( DAX1) gene as cause of adrenal hypoplasia congenita.
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- Human Mutation, 2005, v. 25, n. 5, p. 502, doi. 10.1002/humu.9331
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- Article
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
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- Human Mutation, 2001, v. 18, n. 3, p. 225, doi. 10.1002/humu.1178
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- Article
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young.
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- Human Mutation, 2020, v. 41, n. 1, p. 129, doi. 10.1002/humu.23919
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- Article
Serum circulating miRNA‐342‐3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study.
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- Endocrinology, Diabetes & Metabolism, 2021, v. 4, n. 4, p. 1, doi. 10.1002/edm2.284
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- Article
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
- Published in:
- 2017
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- Publication type:
- journal article
Second-hit APC mutation in a familial adamantinomatous craniopharyngioma.
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- Neuro-Oncology, 2020, v. 22, n. 6, p. 889, doi. 10.1093/neuonc/noaa060
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- Article
Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.683492
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- Article