Search Results - "Tiulpakov"

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene.

Authors: Tiulpakov, Anatoly N. Orlovsky, Igor V. Kalintchenko, Natalya U. et al.

Source: International Journal on Disability & Human Development (De Gruyter). Apr1999, Vol. 1 Issue 2, p95-100. 6p.

Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism.

Authors: Mamedova, Elizaveta Kolodkina, Anna Vasilyev, Evgeny V. et al.

Source: Hormone Research in Paediatrics. 2020, Vol. 93 Issue 4, p272-278.

A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.

Authors: Orekhova, Anna S. Kalinchenko, Natalia Morozov, Ivan A. et al.

Source: Hormone Research in Paediatrics. Jul2018, Vol. 89 Issue 6, p450-454.

Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Authors: Nikolaeva, Alexandra F. Boyko, Timur V. Kadyshev, Vitaly V. et al.

Source: Genes. Jun2026, Vol. 17 Issue 6, p614. 15p.

Growth in children with craniopharyngioma following surgery.

Authors: Tiulpakov Mazerkina Brook et al.

Source: Clinical Endocrinology. Dec1998, Vol. 49 Issue 6, p733-738. 6p. 2 Graphs.

Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.

Authors: Panova, Alexandra V. Klementieva, Natalia V. Sycheva, Anna V. et al.

Source: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 15, p8824-8824. 16p.

Androgens and Fetal Growth.

Authors: de Zegher, Francis Francois, Inge Boehmer, Annemie L.M. et al.

Source: Hormone Research. 1998, Vol. 50 Issue 4, p243-244.

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Authors: Makretskaya, Nina Bezlepkina, Olga Kolodkina, Anna et al.

Source: PLoS ONE. 9/21/2018, Vol. 13 Issue 9, p1-13. 13p.

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.

Authors: Papadimitriou, Dimitrios T. Kleanthous, Kleanthis Manolakos, Emmanouil et al.

Source: Clinical Case Reports. Dec2019, Vol. 7 Issue 12, p2355-2357. 3p.

Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.

Authors: Tikhonovich, Yulia Petryaykina, Elena Zubkova, Natalya et al.

Source: Acta Diabetologica. Sep2022, Vol. 59 Issue 9, p1251-1253. 3p.

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.

Authors: Mamedova, Elizaveta Dimitrova, Diana Przhiyalkovskaya, Elena et al.

Source: Calcified Tissue International. Nov2019, Vol. 105 Issue 5, p567-572. 6p.

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Authors: Zubkova, Natalia Burumkulova, Fatima Plechanova, Margarita et al.

Source: Acta Diabetologica. Apr2019, Vol. 56 Issue 4, p413-420. 8p.

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.

Authors: Szabo, Shelagh M. Tomazos, Ioannis C. Petryk, Anna et al.

Source: Orphanet Journal of Rare Diseases. 4/25/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

Partial deficiency of 17γ-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.

Authors: Rubtsov, Petr Nizhnik, Alexander Dedov, Ivan et al.

Source: European Journal of Endocrinology. May2015, Vol. 172 Issue 5, pK19-K25. 7p.

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.

Authors: Guyon, Cécile Lussier, Yoann Bissonnette, Pierre et al.

Source: American Journal of Physiology: Renal Physiology. Aug2009, Vol. 297, pF489-F498. 10p. 3 Black and White Photographs, 4 Graphs.

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Authors: Turton, James P. G. Mehta, Ameeta Raza, Jamal et al.

Source: Clinical Endocrinology. Jul2005, Vol. 63 Issue 1, p10-18. 9p.

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Authors: Sparber P Ulas E Filatova A et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Jul 15; Vol. 110 (8), pp. e2485-e2497.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE