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Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

International journal of molecular sciences, 2023-11, Vol.24 (21), p.15965

2023

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Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.167-167

2024

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miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

The Journal of biological chemistry, 2014-02, Vol.289 (7), p.3923-3935

2014

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Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle

BMC developmental biology, 2011-06, Vol.11 (1), p.34-34, Article 34

2011

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Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

PloS one, 2015-04, Vol.10 (4), p.e0125341-e0125341

2015

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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular therapy. Methods & clinical development, 2020-09, Vol.18, p.230-239

2020

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RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Life (Basel, Switzerland), 2023-06, Vol.13 (6), p.1332

2023

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Down-regulation of myogenin can reverse terminal muscle cell differentiation

PloS one, 2012-01, Vol.7 (1), p.e29896-e29896

2012

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Methylation status of hypothalamic Mkrn3 promoter across puberty

Frontiers in endocrinology (Lausanne), 2023-01, Vol.13, p.1075341-1075341

2023

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In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

Clinical endocrinology (Oxford), 2016-01, Vol.84 (1), p.80-84

2016

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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Frontiers in endocrinology (Lausanne), 2023-05, Vol.14, p.1156616-1156616

2023

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Age-Related Exosomal and Endogenous Expression Patterns of miR-1, miR-133a, miR-133b, and miR-206 in Skeletal Muscles

Frontiers in physiology, 2021-11, Vol.12, p.708278-708278

2021

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Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Frontiers in endocrinology (Lausanne), 2019-10, Vol.10, p.677-677

2019

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GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature

Frontiers in endocrinology (Lausanne), 2020-08, Vol.11, p.626-626

2020

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Selective Delivery to Cardiac Muscle Cells Using Cell-Specific Aptamers

Pharmaceuticals (Basel, Switzerland), 2023-09, Vol.16 (9), p.1264

2023

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Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Frontiers in endocrinology (Lausanne), 2018-12, Vol.9, p.733-733

2018

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Special Issue--Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Molecules (Basel, Switzerland), 2015-07, Vol.20 (7), p.12944-12945

Phylactou, Leonidas A

2015

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Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-409, Article 409

2021

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Intramuscular Evaluation of Chimeric Locked Nucleic Acid/2′OMethyl-Modified Antisense Oligonucleotides for Targeted Exon 23 Skipping in Mdx Mice

Pharmaceuticals (Basel, Switzerland), 2021-10, Vol.14 (11), p.1113

2021

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Hydrophilic Cationic Star Homopolymers Based on a Novel Diethanol-N-Methylamine Dimethacrylate Cross-Linker for siRNA Transfection: Synthesis, Characterization, and Evaluation

Biomacromolecules, 2011-05, Vol.12 (5), p.1468-1479

2011

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Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

Frontiers in integrative neuroscience, 2020-08, Vol.14, p.45-45

2020

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Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.745048-745048

2021

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Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Molecular therapy. Nucleic acids, 2018-03, Vol.10, p.199-214

2018

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Muscle‐derived exosomes encapsulate myomiRs and are involved in local skeletal muscle tissue communication

The FASEB journal, 2021-02, Vol.35 (2), p.e21279-n/a

2021

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Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center

miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle

Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Down-regulation of myogenin can reverse terminal muscle cell differentiation

Methylation status of hypothalamic Mkrn3 promoter across puberty

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Age-Related Exosomal and Endogenous Expression Patterns of miR-1, miR-133a, miR-133b, and miR-206 in Skeletal Muscles

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature

Selective Delivery to Cardiac Muscle Cells Using Cell-Specific Aptamers

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Special Issue--Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

Intramuscular Evaluation of Chimeric Locked Nucleic Acid/2′OMethyl-Modified Antisense Oligonucleotides for Targeted Exon 23 Skipping in Mdx Mice

Hydrophilic Cationic Star Homopolymers Based on a Novel Diethanol-N-Methylamine Dimethacrylate Cross-Linker for siRNA Transfection: Synthesis, Characterization, and Evaluation

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Muscle‐derived exosomes encapsulate myomiRs and are involved in local skeletal muscle tissue communication

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