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

por Sorkina, Ekaterina, Makarova, Polina, Bolotskaya, Liubov, Ulyanova, Irina, Chernova, Tatyana, Tiulpakov, Anatoly
Publicado 2020

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

por Mamedova, Elizaveta, Vasilyev, Evgeny, Petrov, Vasily, Buryakina, Svetlana, Tiulpakov, Anatoly, Belaya, Zhanna
Publicado 2021

G protein β interacts with the glucocorticoid receptor and suppresses its transcriptional activity in the nucleus

por Kino, Tomoshige, Tiulpakov, Anatoly, Ichijo, Takamasa, Chheng, Ly, Kozasa, Tohru, Chrousos, George P.
Publicado 2005

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians

por Makretskaya, Nina, Kalinchenko, Natalia, Tebieva, Inna, Ionova, Sofya, Zinchenko, Rena, Marakhonov, Andrey, Tiulpakov, Anatoly
Publicado 2023

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

por Yukina, Marina, Nuralieva, Nurana, Sorkina, Ekaterina, Troshina, Ekaterina, Tiulpakov, Anatoly, Belaya, Zhanna, Melnichenko, Galina
Publicado 2021

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

por Krupinova, Julia, Mokrysheva, Natalya, Petrov, Vasiliy, Pigarova, Ekaterina, Eremkina, Anna, Dobreva, Ekaterina, Ajnetdinova, Alina, Melnichenko, Galina, Tiulpakov, Anatoly
Publicado 2021

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

por Mamedova, Elizaveta, Mokrysheva, Natalya, Vasilyev, Evgeny, Petrov, Vasily, Pigarova, Ekaterina, Kuznetsov, Sergey, Kuznetsov, Nikolay, Rozhinskaya, Liudmila, Melnichenko, Galina, Dedov, Ivan, Tiulpakov, Anatoly
Publicado 2017

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

por Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V., Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I., Tiulpakov, Anatoly
Publicado 2018

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

por Aftab, Sommayya, Gubaeva, Diliara, Houghton, Jayne A L, Dastamani, Antonia, Sotiridou, Ellada, Gilbert, Clare, Flanagan, Sarah E, Tiulpakov, Anatoly, Melikyan, Maria, Shah, Pratik
Publicado 2022

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

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

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

por Papadimitriou, Dimitrios T., Kleanthous, Kleanthis, Manolakos, Emmanouil, Tiulpakov, Anatoly, Nikolopoulos, Thomas, Delides, Alexandros, Voros, Gerasimos, Dinopoulos, Argyrios, Zoupanos, George, Papadimitriou, Anastasios, Mastorakos, Georgios, Urano, Fumihiko
Publicado 2019

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

por Rozhinskaya, Liudmila, Pigarova, Ekaterina, Sabanova, Ekaterina, Mamedova, Elizaveta, Voronkova, Iya, Krupinova, Julia, Dzeranova, Larisa, Tiulpakov, Anatoly, Gorbunova, Vera, Orel, Nadezhda, Zalian, Artur, Melnichenko, Galina, Dedov, Ivan
Publicado 2017

Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking

por Tiulpakov, Anatoly, White, Carl W., Abhayawardana, Rekhati S., See, Heng B., Chan, Audrey S., Seeber, Ruth M., Heng, Julian I., Dedov, Ivan, Pavlos, Nathan J., Pfleger, Kevin D. G.
Publicado 2016

Differences in Menin Expression in Pituitary Adenomas in Multiple Endocrine Neoplasia Type 1, Its Phenocopies and Sporadic Acromegaly

por Dimitrova, Diana A, Mamedova, Elizaveta O, Lapshina, Anastasia M, Azizyan, Vilen N, Grigoriev, Andrey Y, Vasilyev, Evgeny V, Tiulpakov, Anatoly N, Belaya, Zhanna E, Melnichenko, Galina A
Publicado 2021

Insulinoma in childhood: a retrospective review of 22 patients from one referral centre

por Melikyan, Maria, Gubaeva, Diliara, Shadrina, Anna, Bolmasova, Anna, Kareva, Maria, Tiulpakov, Anatoly, Efremenkov, Artem, Sokolov, Yuri, Brusgaard, Klaus, Christesen, Henrik T., Andersen, Kirstine, Stepanov, Alexey, Averyanova, Julia, Makarov, Sergey, Gurevich, Larisa
Publicado 2023

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

por Panova, Alexandra V., Klementieva, Natalia V., Sycheva, Anna V., Korobko, Elena V., Sosnovtseva, Anastasia O., Krasnova, Tatiana S., Karpova, Maria R., Rubtsov, Petr M., Tikhonovich, Yulia V., Tiulpakov, Anatoly N., Kiselev, Sergey L.
Publicado 2022