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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1343-E1352

2015

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Syndromic growth retardation caused by impaired function of the ribosomal protein eL13

Problemy ėndokrinologii, 2023-10, Vol.70 (3), p.93-97

2023

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Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia

Problemy ėndokrinologii, 2023-06, Vol.69 (6), p.109-112

2023

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Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341/probl12445)

Problemy ėndokrinologii, 2021-12, Vol.67 (6), p.124-126

2021

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Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity

Molecular biology (New York), 2020-09, Vol.54 (5), p.749-756

2020

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Morphological characteristics of pituitary adenomas in the phenocopy of multiple endocrine neoplasia type 1

Problemy ėndokrinologii, 2021-10, Vol.67 (6), p.50-58

2021

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HEREDITARY DISORDERS OF CALCIUM-PHOSPHORUS METABOLISM: DIAGNOSIS AND TREATMENT

Osteoporoz i osteopatii, 2016-12, Vol.19 (1), p.21

Tiulpakov, A N

2016

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Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency

The journal of clinical endocrinology and metabolism, 2005-08, Vol.90 (8), p.4762-4770

2005

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Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects

Problemy ėndokrinologii, 2021-05, Vol.67 (3), p.55-61

2021

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Glucokinase and glucokinase regulatory proteins as molecular targets for novel antidiabetic drugs

Molecular biology (New York), 2015-07, Vol.49 (4), p.494-499

2015

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6C.03: A CASE OF SEVERE HYPERALDOSTERONISM CAUSED BY A DE NOVO KCNJ5 MUTATION

Journal of hypertension, 2015-06, Vol.33 Suppl 1 - ESH 2015 Abstract Book (Supplement 1), p.e79-e80

2015

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Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes

Problemy ėndokrinologii, 2021-05, Vol.67 (3), p.62-67

2021

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A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology

Problemy ėndokrinologii, 2024-01, Vol.69 (6), p.102-108

2024

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A clinical Case and brief literature review of Icenko-Cushing’s Disease in a pediatric patient with atypical onset of the disease

Problemy ėndokrinologii, 2022-05, Vol.68 (4), p.92-101

2022

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Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Problemy ėndokrinologii, 2020-12, Vol.66 (6), p.59-64

2020

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Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2

Problemy ėndokrinologii, 2023-05, Vol.69 (2), p.75-79

2023

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Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity

Molekuliarnaia biologiia, 2020-09, Vol.54 (5), p.849

2020

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A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics

Problemy ėndokrinologii, 2021-11, Vol.67 (5), p.48-52

2021

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Growth in children with craniopharyngioma following surgery

Clinical endocrinology (Oxford), 1998-12, Vol.49 (6), p.733-738

1998

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Diagnosis of medullary thyroid cancer and prognostic factors of disease aggressiveness

Èndokrinnaâ hirurgiâ, 2013-12, Vol. (4), p.4

2013

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Primary hyperparathyroidism in children

Problemy ėndokrinologii, 2023-10, Vol.70 (3), p.74-82

2023

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A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity

The journal of clinical endocrinology and metabolism, 2005-06, Vol.90 (6), p.3696-3705

2005

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Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation

Problemy ėndokrinologii, 2021-05, Vol.67 (3), p.68-72

2021

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G Protein β Interacts with the Glucocorticoid Receptor and Suppresses Its Transcriptional Activity in the Nucleus

The Journal of cell biology, 2005-06, Vol.169 (6), p.885-896

2005

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Effects of oral administration of ibutamoren mesylate, a nonpeptide growth hormone secretagogue, on the growth hormone-insulin-like growth factor I axis in growth hormone-deficient children

Clinical pharmacology and therapeutics, 2001-07, Vol.70 (1), p.91-98

2001

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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

Syndromic growth retardation caused by impaired function of the ribosomal protein eL13

Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia

Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341/probl12445)

Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity

Morphological characteristics of pituitary adenomas in the phenocopy of multiple endocrine neoplasia type 1

HEREDITARY DISORDERS OF CALCIUM-PHOSPHORUS METABOLISM: DIAGNOSIS AND TREATMENT

Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency

Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects

Glucokinase and glucokinase regulatory proteins as molecular targets for novel antidiabetic drugs

6C.03: A CASE OF SEVERE HYPERALDOSTERONISM CAUSED BY A DE NOVO KCNJ5 MUTATION

Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes

A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology

A clinical Case and brief literature review of Icenko-Cushing’s Disease in a pediatric patient with atypical onset of the disease

Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2

Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity

A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics

Growth in children with craniopharyngioma following surgery

Diagnosis of medullary thyroid cancer and prognostic factors of disease aggressiveness

Primary hyperparathyroidism in children

A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity

Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation

G Protein β Interacts with the Glucocorticoid Receptor and Suppresses Its Transcriptional Activity in the Nucleus

Effects of oral administration of ibutamoren mesylate, a nonpeptide growth hormone secretagogue, on the growth hormone-insulin-like growth factor I axis in growth hormone-deficient children

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