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Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Endocrine, 2020-08, Vol.69 (2), p.262-277

2020

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

International journal of neonatal screening, 2021-03, Vol.7 (1), p.15

2021

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Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Frontiers in endocrinology (Lausanne), 2022-01, Vol.12, p.788812-788812

2022

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The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

European journal of medical research, 2019-06, Vol.24 (1), p.21-6, Article 21

2019

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Genetics of Gland- in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

Frontiers in endocrinology (Lausanne), 2020-07, Vol.11, p.413

2020

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A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia

Endocrine, 2021-07, Vol.73 (1), p.196-202

2021

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Old syndrome–new approach: Mauriac syndrome treated with continuous insulin delivery

SAGE open medical case reports, 2018, Vol.6, p.2050313X18785510

2018

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Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up

Endocrine Connections, 2018-04, Vol.7 (4), p.544-552

2018

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Thyroid function and dysfunction in preterm infants—Challenges in evaluation, diagnosis and therapy

Clinical endocrinology (Oxford), 2021-10, Vol.95 (4), p.556-570

2021

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Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Balkan medical journal, 2023-07, Vol.40 (4), p.252-261

2023

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Newborn Screening for Thyroid-stimulating Hormone as an Indicator for Assessment of Iodine Status in the Republic of Macedonia

Journal of medical biochemistry, 2016-10, Vol.35 (4), p.385-389

2016

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Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

International journal of neonatal screening, 2017-06, Vol.3 (2), p.7

2017

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Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism

Endocrine Connections, 2018-02, Vol.7 (2), p.278-285

2018

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Current Status of Newborn Screening in Southeastern Europe

Frontiers in pediatrics, 2021-05, Vol.9, p.648939-648939

2021

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Association of IL-1ra and Adiponectin With C-Peptide and Remission in Patients With Type 1 Diabetes

Diabetes (New York, N.Y.), 2008-04, Vol.57 (4), p.929-937

2008

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Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. Tincheva, H. Tahirovic, A. Toromanovic,

Molecular genetics and metabolism reports, 2015-12, Vol.5 (C), p.110-110

2015

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Good Metabolic Control Is Associated With Better Quality of Life in 2,101 Adolescents With Type 1 Diabetes

Diabetes care, 2001-11, Vol.24 (11), p.1923-1928

2001

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Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency

Journal of medical biochemistry, 2015-01, Vol.34 (1), p.52-57

2015

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Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

International journal of neonatal screening, 2017-08, Vol.3 (3), p.22

2017

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Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia

Journal of Pediatric Endocrinology and Metabolism, 2017-04, Vol.30 (4), p.405

2017

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Submental thyroid ectopy might cause subclinical hypothyroidism in early childhood

SAGE open medical case reports, 2016-01, Vol.4, p.2050313X16683623

2016

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Metabolic Setup and Risks in Obese Children

Journal of medical biochemistry, 2015-01, Vol.34 (1), p.31-37

2015

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Phenylketonuria screening in the Republic of Macedonia

Orphanet journal of rare diseases, 2016-08, Vol.11 (1), p.112-112, Article 112

2016

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Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

Genetics of Gland- in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia

Old syndrome–new approach: Mauriac syndrome treated with continuous insulin delivery

Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up

Thyroid function and dysfunction in preterm infants—Challenges in evaluation, diagnosis and therapy

Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Newborn Screening for Thyroid-stimulating Hormone as an Indicator for Assessment of Iodine Status in the Republic of Macedonia

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism

Current Status of Newborn Screening in Southeastern Europe

Association of IL-1ra and Adiponectin With C-Peptide and Remission in Patients With Type 1 Diabetes

Good Metabolic Control Is Associated With Better Quality of Life in 2,101 Adolescents With Type 1 Diabetes

Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency

Persistent Differences Among Centers Over 3 Years in Glycemic Control and Hypoglycemia in a Study of 3,805 Children and Adolescents With Type 1 Diabetes From the Hvidøre Study Group

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia

Submental thyroid ectopy might cause subclinical hypothyroidism in early childhood

Metabolic Setup and Risks in Obese Children

Phenylketonuria screening in the Republic of Macedonia

Trends and cyclical variation in the incidence of childhood type 1 diabetes in 26 European centres in the 25year period 1989-2013: a multicentre prospective registration study

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