Publications by authors named "Anatoly Tiulpakov"

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Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Peter Sparber, Evgeniia Ulas, Alexandra Filatova, Eugene Tatarskiy, Grigory Perelman, Anatoly Tiulpakov

J Clin Endocrinol Metab· July 2025

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High carrier frequency of a nonsense p.Trp230* variant in gene in Ossetians.
Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Anatoly Tiulpakov

Front Endocrinol (Lausanne)· June 2023

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Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
Maria Melikyan, Diliara Gubaeva, Anna Shadrina, Anna Bolmasova, Maria Kareva, Anatoly Tiulpakov

Front Endocrinol (Lausanne)· May 2023

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Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Anatoly Tiulpakov

Endocr Connect· April 2023

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Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study.
Elif A Oral, Abhimanyu Garg, Joseph Tami, Eric A Huang, Louis St L O'Dea, Anatoly Tiulpakov

J Clin Lipidol· January 2023

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Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.
Yulia Tikhonovich, Elena Petryaykina, Natalya Zubkova, Irina Garyaeva, Anatoly Tiulpakov

Acta Diabetol· September 2022

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A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.
Iuliia Viakhireva, Natalia Kalinchenko, Evgeny Vasilyev, Galina V Chistousova, Alexandra Filatova, Anatoly Tiulpakov

J Clin Endocrinol Metab· August 2022

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Aberrant Splicing of Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.
Alexandra V Panova, Natalia V Klementieva, Anna V Sycheva, Elena V Korobko, Anastasia O Sosnovtseva, Anatoly N Tiulpakov

Int J Mol Sci· August 2022

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The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
Maria Melikyan, Diliara Gubaeva, Irina Nikitina, Daria Ryzhkova, Lubov Mitrofanova, Anatoly Tiulpakov

J Pediatr Endocrinol Metab· March 2022

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Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a Mutation: A Case Report.
Elizaveta Mamedova, Evgeny Vasilyev, Vasily Petrov, Svetlana Buryakina, Anatoly Tiulpakov

Front Endocrinol (Lausanne)· January 2022

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Serum circulating miRNA-342-3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study.
Julia Krupinova, Natalya Mokrysheva, Vasiliy Petrov, Ekaterina Pigarova, Anna Eremkina, Anatoly Tiulpakov

Endocrinol Diabetes Metab· October 2021

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Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism.
Elizaveta Mamedova, Anna Kolodkina, Evgeny V Vasilyev, Vasiliy Petrov, Zhanna Belaya, Anatoly Tiulpakov

Horm Res Paediatr· August 2021

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Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene.
Alexandra V Panova, Kristina S Kulikova, Natalia V Klementieva, Ivan D Krylov, Irina O Snezhko, Anatoly N Tiulpakov

Stem Cell Res· July 2021

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Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.
Marina Yukina, Nurana Nuralieva, Ekaterina Sorkina, Ekaterina Troshina, Anatoly Tiulpakov

Endocrinol Diabetes Metab Case Rep· April 2021

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Clinical Outcomes and Complications of Pituitary Blastoma.
Anthony P Y Liu, Megan M Kelsey, Nelly Sabbaghian, Sung-Hye Park, Cheri L Deal, Anatoly Tiulpakov

J Clin Endocrinol Metab· January 2021

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[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Natalia Yu Kalinchenko, Anna A Kolodkina, Nadezda Y Raygorodskaya, Anatoly N Tiulpakov

Probl Endokrinol (Mosk)· September 2020

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[Dizygotic pregnancy as a possible mechanism of fetal gestation with a biallel mutation in the CYP11A1 gene: clinical case description].
Natalia Yu Kalinchenko, Yulia V Kasyanova, Anatoly N Tiulpakov

Probl Endokrinol (Mosk)· September 2020

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Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation.
Alexandra V Panova, Natalia V Klementieva, Anna V Sycheva, Daria V Goliusova, Nikolay V Khokhlov, Anatoly N Tiulpakov

Stem Cell Res· August 2020

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Second-hit APC mutation in a familial adamantinomatous craniopharyngioma.
Alexander Gorelyshev, Nadia Mazerkina, Olga Medvedeva, Evgeny Vasilyev, Vasily Petrov, Anatoly Tiulpakov

Neuro Oncol· June 2020

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Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X gene variant.
Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov

Clin Diabetes Endocrinol· May 2020

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Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the young.
Anatoly Tiulpakov, Natalia Zubkova, Nina Makretskaya, Tatiana S Krasnova, Anna I Melnikova

Hum Mutat· January 2020

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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
Dimitrios T Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos

Clin Case Rep· December 2019

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Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
Elizaveta Mamedova, Diana Dimitrova, Elena Przhiyalkovskaya, Svetlana Buryakina, Evgeny Vasilyev, Anatoly Tiulpakov

Calcif Tissue Int· November 2019

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High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
Natalia Zubkova, Fatima Burumkulova, Margarita Plechanova, Vasily Petrukhin, Vasily Petrov, Anatoly Tiulpakov

Acta Diabetol· April 2019

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Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Shelagh M Szabo, Ioannis C Tomazos, Anna Petryk, Lauren C Powell, Bonnie M K Donato, Anatoly Tiulpakov

Orphanet J Rare Dis· April 2019

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