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Distinguishing Deficiencies in the Steroidogenic Acute Regulatory Protein and the Cholesterol Side Chain Cleavage Enzyme Causing Neonatal Adrenal Failure

The Journal of pediatrics, 2013-04, Vol.162 (4), p.819-822

2013

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

Journal of the American Society of Nephrology, 2015-03, Vol.26 (3), p.543-551

2015

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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

The New England journal of medicine, 2015-01, Vol.372 (4), p.341-350

2015

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Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1378-1382

2010

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Idursulfatase Therapy in Mucopolysaccharidosis Type II: After 2.5 Years of Treatment—No Benefit for Older Patients With Multisystem Involvement

Pediatric neurology, 2012-03, Vol.46 (3), p.199-200

2012

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Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Human molecular genetics, 2013-04, Vol.22 (8), p.1625-1631

2013

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Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication

Clinical dysmorphology, 2019-07, Vol.28 (3), p.142-142

2019

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Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty

Journal of Pediatric Endocrinology and Metabolism, 2014-01, Vol.27 (1-2), p.199

2014

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Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2688-2690

2008

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The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS)

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2013, Vol.34 (2), p.79-83

2013

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Novel β‐galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1736-1740

2008

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Papillorenal Syndrome after Beta-Interferon Treatment in Pregnancy

Renal failure, 2009, Vol.31 (7), p.602-605

2009

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Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes

PRILOZI, 2023-07, Vol.44 (2), p.171-174

2023

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Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2014, Vol.35 (1), p.129-132

2014

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Childhood craniopharyngioma in Macedonia: incidence and outcome after subtotal resection and cranial irradiation

World journal of pediatrics : WJP, 2011-02, Vol.7 (1), p.74-78

2011

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A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response

Journal of genetics, 2009-08, Vol.88 (2), p.239-243

2009

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Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report

Cases journal, 2009-12, Vol.2 (1), p.9403-9403, Article 9403

2009

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Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Human molecular genetics, 2013-04, Vol.22 (8), p.1625-1631

2013

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Insulin-like growth factor binding protein 3 mediates retinoic acid- and transforming growth factor β2-induced growth inhibition in human breast cancer cells

Cancer research (Chicago, Ill.), 1996-04, Vol.56 (7), p.1545-1550

1996

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Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Prilozi. Contributions, 2015-05, Vol.36 (1), p.205-208

2015

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Renal Dysplasia in Bardet-Biedl Syndrome/ Бубрежна Дисплазија Кај Бардет Бидл Синдром

Prilozi. Contributions, 2015-05, Vol.36 (1), p.213-217

2015

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Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2023-07, Vol.44 (2), p.171

2023

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Chapter 11 - Disorders in the initial steps in steroidogenesis

Genetic Steroid Disorders, 2023, p.217-237

Second Edition, 2023

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CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2688-2690

2008

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Greenberg dysplasia (hydrops–ectopic calcification–moth‐eaten skeletal dysplasia): Prenatal ultrasound diagnosis and review of literature

American journal of medical genetics, 2002-09, Vol.111 (4), p.415-419

2002

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Distinguishing Deficiencies in the Steroidogenic Acute Regulatory Protein and the Cholesterol Side Chain Cleavage Enzyme Causing Neonatal Adrenal Failure

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

Idursulfatase Therapy in Mucopolysaccharidosis Type II: After 2.5 Years of Treatment—No Benefit for Older Patients With Multisystem Involvement

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication

Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS)

Novel β‐galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

Papillorenal Syndrome after Beta-Interferon Treatment in Pregnancy

Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes

Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty

Childhood craniopharyngioma in Macedonia: incidence and outcome after subtotal resection and cranial irradiation

A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Insulin-like growth factor binding protein 3 mediates retinoic acid- and transforming growth factor β2-induced growth inhibition in human breast cancer cells

Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Renal Dysplasia in Bardet-Biedl Syndrome/ Бубрежна Дисплазија Кај Бардет Бидл Синдром

Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes

Chapter 11 - Disorders in the initial steps in steroidogenesis

CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

Greenberg dysplasia (hydrops–ectopic calcification–moth‐eaten skeletal dysplasia): Prenatal ultrasound diagnosis and review of literature

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