Search Results - "Tiulpakov A"

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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