Publications by authors named "Meropi Toumba"

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European survey on metabolic and cardiovascular risk in Cushing syndrome.
Alessandro Mondin, Mattia Barbot, Filippo Ceccato, Alberto M Pereira, Anna Angelousi, Meropi Toumba

J Endocrinol Invest· November 2025

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Estrogen receptor signaling and targets: Bones, breasts and brain (Review).
Meropi Toumba, Alexandros Kythreotis, Konstantina Panayiotou, Nicos Skordis

Mol Med Rep· August 2024

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Obesogens in Adolescence: Challenging Aspects and Prevention Strategies.
Marina Nicolaou, Meropi Toumba, Alexandros Kythreotis, Habib Daher, Nicos Skordis

Children (Basel)· May 2024

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Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Nicos Skordis, Leonidas A Phylactou

Orphanet J Rare Dis· April 2024

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Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia.
Trine Holm Johannsen, Jakob Albrethsen, Vassos Neocleous, Federico Baronio, Martine Cools, Meropi Toumba

Endocr Connect· July 2023

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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Pavlos Fanis, Nicos Skordis, Meropi Toumba, Michalis Picolos, George A Tanteles

Front Endocrinol (Lausanne)· June 2023

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Stress, Thyroid Dysregulation, and Thyroid Cancer in Children and Adolescents: Proposed Impending Mechanisms.
Angelos Kyriacou, Vaitsa Tziaferi, Meropi Toumba

Horm Res Paediatr· March 2023

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Methylation status of hypothalamic promoter across puberty.
Pavlos Fanis, Maria Morrou, Marios Tomazou, Kyriaki Michailidou, George M Spyrou, Meropi Toumba

Front Endocrinol (Lausanne)· February 2023

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Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Barbara Gorka, Ioanna Kousiappa

Front Endocrinol (Lausanne)· February 2022

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Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
Meropi Toumba, Pavlos Fanis, Dimitrios Vlachakis, Vassos Neocleous, Leonidas A Phylactou

Int J Mol Med· January 2022

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Microcalcifications without a thyroid nodule as the sole sign of papillary thyroid carcinoma.
Stamatina Ioakim, Vasilis Constantinides, Meropi Toumba, Theodoros Lyssiotis, Angelos Kyriacou

Endocrinol Diabetes Metab Case Rep· September 2021

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GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in , and Genes in a Case Series and Review of the Literature.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, George A Tanteles, Melpo Schiza

Front Endocrinol (Lausanne)· May 2021

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Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted Gene.
Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris

Front Endocrinol (Lausanne)· October 2019

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46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Vassos Neocleous, Pavlos Fanis, Feride Cinarli, Vasilis Kokotsis, Anastasios Oulas, Meropi Toumba

Hormones (Athens)· September 2019

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The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Charilaos Stylianou, Michalis Picolos

Horm Metab Res· September 2019

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Variations in the 3'UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A P Phedonos, Michalis Picolos

Int J Endocrinol· April 2017

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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Meropi Toumba

Nat Rev Endocrinol· February 2017

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Evidence of digenic inheritance in autoinflammation-associated genes.
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas

J Genet· December 2016

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A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.
Vassos Neocleous, Christos Shammas, Marie M Phelan, Pavlos Fanis, Maria Pantelidou, Meropi Toumba

Hormones (Athens)· July 2016

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Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Christos Shammas, Stefania Byrou, Marie M Phelan, Meropi Toumba, Charilaos Stylianou

Hormones (Athens)· April 2016

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Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
Vassos Neocleous, Constantina Costi, Christina Kyriakou, Tassos C Kyriakides, Christos Shammas, Meropi Toumba

Ann Hum Genet· January 2015

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A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove

J Pediatr Endocrinol Metab· August 2014

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A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.
Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove

J Pediatr Endocrinol Metab· July 2014

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Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential.
Meropi Toumba, Vasilis Kokotsis, Savvas C Savva, Nicos Skordis

J Pediatr Endocrinol Metab· March 2014

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Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A P Phedonos

Genet Test Mol Biomarkers· September 2012

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