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Multiple endocrine neoplasia type 1 variants and phenocopies

Terapevtic̆eskii arhiv, 2014-01, Vol.86 (10), p.87

2014

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Primary hyperparathyroidism in children

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

2023

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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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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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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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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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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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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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The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)

Problemy ėndokrinologii, 2011-02, Vol.57 (1), p.26-34

Tiul'pakov, A N

2011

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The prevalence of the non-classical form of congenital adrenal hyperplasia as exemplified (by the population of the Moscow region)

Problemy ėndokrinologii, 2013-08, Vol.59 (4), p.18-22

2013

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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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Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects

Problemy ėndokrinologii, 2010-04, Vol.56 (2), p.3-9

2010

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Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2

Molekuliarnaia biologiia, 2014-03, Vol.48 (2), p.288

2014

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The non-classical form of congenital adrenal cortical hyperplasia due to 11Β-hydroxylase deficiency: the description of three clinical cases

Problemy ėndokrinologii, 2013-06, Vol.59 (3), p.36-44

2013

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Pheochromocytoma/paraganglioma: clinical and genetic aspects

Problemy ėndokrinologii, 2013-06, Vol.59 (3), p.19-26

2013

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Familial isolated glucocorticoid deficiency: three clinical cases and a brief overview of the current literature

Problemy ėndokrinologii, 2013-06, Vol.59 (3), p.30-35

2013

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The comparative assessment of the effectiveness of immunoanalysis and tandem mass spectrometry applied for re-testing the children with suspected congenital adrenal cortical hyperplasia

Problemy ėndokrinologii, 2013-04, Vol.59 (2), p.12-18

2013

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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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Monogenic diabetes mellitus associated with a mutation in the insulin gene (INS)

Problemy ėndokrinologii, 2013-04, Vol.59 (2), p.45-48

2013

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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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Von Hippel-Lindau disease (VHL-syndrome)

Problemy ėndokrinologii, 2012-04, Vol.58 (2), p.34-41

2012

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Diagnostics of medullary thyroid cancer and the strategy of its management in the absence of biochemical remission

Problemy ėndokrinologii, 2011-12, Vol.57 (6), p.45-51

2011

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Multiple endocrine neoplasia type 1 variants and phenocopies

Primary hyperparathyroidism in children

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

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

HEREDITARY DISORDERS OF CALCIUM-PHOSPHORUS METABOLISM: DIAGNOSIS AND TREATMENT

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

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

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

The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)

The prevalence of the non-classical form of congenital adrenal hyperplasia as exemplified (by the population of the Moscow region)

Growth in children with craniopharyngioma following surgery

Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects

Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2

The non-classical form of congenital adrenal cortical hyperplasia due to 11Β-hydroxylase deficiency: the description of three clinical cases

Pheochromocytoma/paraganglioma: clinical and genetic aspects

Familial isolated glucocorticoid deficiency: three clinical cases and a brief overview of the current literature

The comparative assessment of the effectiveness of immunoanalysis and tandem mass spectrometry applied for re-testing the children with suspected congenital adrenal cortical hyperplasia

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

Monogenic diabetes mellitus associated with a mutation in the insulin gene (INS)

Diagnosis of medullary thyroid cancer and prognostic factors of disease aggressiveness

Von Hippel-Lindau disease (VHL-syndrome)

Diagnostics of medullary thyroid cancer and the strategy of its management in the absence of biochemical remission

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