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Nina Makretskaya

Observed names: N. A. Makretskaya, N. Makretskaya, N.A. Makretskaya, Nina A. Makretskaya, Nina Alekseevna Makretskaya, Макрецкая Нина Алексеевна, Н. А. Макрецкая
ORCID: 0000-0003-0412-7140
Observed ORCID: 0000-0003-0412-7140
OpenAlex ID: A5066687783
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
2018 · Nina Makretskaya, Olga Bezlepkina, et al. · PLoS ONE · 59
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Clinical guideline of «congenital hypothyroidism»
2022 · V. A. Peterkova, O. B. Bezlepkina, et al. · Problems of Endocrinology · 21
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High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy
2019 · Natalia Zubkova, Fatima Burumkulova, et al. · Acta Diabetologica · 18
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young
2019 · Anatoly Tiulpakov, Natalia Zubkova, et al. · Human Mutation · 9
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Birth weight and length in offsprings of mothers with gestational diabetes mellitus due to mutations in GCK gene
2018 · Natalia A. Zubkova, Fatima F. Burumkulova, et al. · Diabetes Mellitus · 7
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Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects
2021 · N. A. Zubkova, A. A. Kolodkina, et al. · Problems of Endocrinology · 6
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Mutations in transcription factor as rare causes of diabetes in pregnancy
2019 · Natalia A. Zubkova, Fatima F. Burumkulova, et al. · Diabetes Mellitus · 5
Study of molecular basis of thyroid dysgenesis
2018 · Nina A. Makretskaya, Olga B. Bezlepkina, et al. · Clinical and experimental thyroidology · 4
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High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians
2023 · Nina Makretskaya, Natalia Kalinchenko, et al. · Frontiers in Endocrinology · 3
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A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
2019 · Natalia A. Zubkova, Petr M. Rubtsov, et al. · Diabetes Mellitus · 3
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The results of the analysis of clinical and laboratory features of congenital hyperinsulinism in Beckwith–Wiedemann syndrome
2025 · S.D. Mikhalina, E.A. Yanar, et al. · Neonatology News Opinions Training · 2
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Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2
2023 · N. A. Makretskaya, U. S. Nanzanova, et al. · Problems of Endocrinology · 2
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Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes
2021 · N. A. Makretskaya, M. V. Gerasimova, et al. · Problems of Endocrinology · 2
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Case of congenital hypothyroidism related to NKX2-1
2016 · Nina A. Makretskaya, Natalya Y. Kalinchenko, et al. · Problems of Endocrinology · 2
Resistance to thyrotropin: familial case report
2016 · Mariya Aleksandrovna Osipovskaya, Alexey Vasil'evich Kiyaev, et al. · Clinical and experimental thyroidology · 2
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case
2025 · N. A. Makretskaya, N. Y. Kalinchenko, et al. · Problems of Endocrinology · 1
Clinical and molecular genetic features of cases of Floating-Harbor syndrome
2025 · N. A. Makretskaya, O. R. Ismagilova, et al. · Problems of Endocrinology · 1
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Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the HSD17B3 gene
2024 · N. Y. Kalinchenko, N. A. Makretskaya, et al. · Problems of Endocrinology · 1
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A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect
2017 · Nina A. Makretskaya, Olga B. Bezlepkina, et al. · Problems of Endocrinology · 1
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A Rare Clinical Presentation of Variegate Porphyria
2026 · I. Viakhireva, A. Murtazina, et al. · Molecular Genetics & Genomic Medicine
Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene
2025 · N. Y. Kalinchenko, N. A. Makretskaya, et al. · Problems of Endocrinology
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Микроцефальная Остеодиспластическая Примордиальная Карликовость Ii Типа (мопк Ii Типа): Описание Клинического Случая
2025 · Макрецкая Нина Алексеевна, Калинченко Наталья Юрьевна, et al. · Problems of Endocrinology
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype
2024 · Peter Sparber, Evgeniia Ulas, et al. · The Journal of Clinical Endocrinology & Metabolism
Natural course of the congenital subclinical hypothyroidism does not affect physical and neuropsychiatric development of children
2024 · A. V. Kiiaev, M. A. Slovak, et al. · Clinical and experimental thyroidology
Клиническая, Гормональная И Молекулярно-генетическая Характеристика Случаев Нарушения Формирования Пола При Кариотипе 46,xy, Ассоциированных С Вариантами В Гене Hsd17b3
2024 · Макрецкая Нина Алексеевна, Калинченко Наталья Юрьевна, et al. · Problems of Endocrinology
Works count: 46
Citation count: 149
H-index: 6
I10-index: 3
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