Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

by Elizaveta Mamedova, Evgeny Vasilyev, Vasily Petrov, Svetlana Buryakina, Anatoly Tiulpakov, Anatoly Tiulpakov, Zhanna Belaya
Published 2021-05-01

Osteogenesis imperfecta type XIX due to a novel MBTPS2 mutation: A case report

by Tatiana Grebennikova, Anatoly Tiulpakov, Kristina Kulikova, Galina Melnichenko, Zhanna Belaya
Published 2020-10-01

Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

by Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov
Published 2020-05-01

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis

by Marina Yukina, Nurana Nuralieva, Ekaterina Sorkina, Ekaterina Troshina, Anatoly Tiulpakov, Zhanna Belaya, Galina Melnichenko
Published 2021-04-01

Serum circulating miRNA‐342‐3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study

by Julia Krupinova, Natalya Mokrysheva, Vasiliy Petrov, Ekaterina Pigarova, Anna Eremkina, Ekaterina Dobreva, Alina Ajnetdinova, Galina Melnichenko, Anatoly Tiulpakov
Published 2021-10-01

Analysis of the informativeness of melatonin evaluation in polycystic ovary syndrome

by Elena Andreeva, Yulia Absatarova, Ekaterina Sheremetyeva, Dmitriy Derkatch, Tatiana Ponomareva, Anatoly Tiulpakov, Vitaliy Ioutsi, Alexander Ilyin, Kamoljon Murvatov
Published 2016-12-01

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

by Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I Dedov, Anatoly Tiulpakov
Published 2018-01-01

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome

by Elizaveta Mamedova, Natalya Mokrysheva, Evgeny Vasilyev, Vasily Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina Melnichenko, Ivan Dedov, Anatoly Tiulpakov
Published 2017-10-01

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

by Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno
Published 2019-04-01

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

by Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano
Published 2019-12-01

Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases

by Liudmila Rozhinskaya, Ekaterina Pigarova, Ekaterina Sabanova, Elizaveta Mamedova, Iya Voronkova, Julia Krupinova, Larisa Dzeranova, Anatoly Tiulpakov, Vera Gorbunova, Nadezhda Orel, Artur Zalian, Galina Melnichenko, Ivan Dedov
Published 2017-03-01