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ArticlesPeer ReviewedFull Text
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
Author / Creator:Papadopoulos, George ; Papadopoulou, Anna ; Kosma, Konstantina ; Papadimitriou, Anastasios ; Papaevangelou, Vassiliki ; Kanaka-Gantenbein, Christina ; Bountouvi, Evangelia ; Kitsiou-Tzeli, Sophia
Publisher:Berlin: Springer Nature B.V
Journal title:European journal of pediatrics, 2022-10, Vol.181 (10), p.3691-3700
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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations
Author / Creator:Bountouvi, Evangelia ; Papadopoulou, Anna ; Vanier, Marie T. ; Nyktari, Georgia ; Kanellakis, Spyridon ; Michelakakis, Helen ; Dinopoulos, Argyrios
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-05, Vol.18 (1), p.51-8, Article 51
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The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders
Author / Creator:Papadopoulou, Anna ; Bountouvi, Evangelia ; Karachaliou, Fotini-Eleni
Publisher:Basel: MDPI AG
Journal title:Genes, 2021-05, Vol.12 (5), p.734
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Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece
Author / Creator:Papadopoulos, Iordanis ; Bountouvi, Evangelia ; Attilakos, Achilleas ; Gole, Evangelia ; Dinopoulos, Argirios ; Peppa, Melpomeni ; Nikolaidou, Polyxeni ; Papadopoulou, Anna
Publisher:Berlin: Springer Nature B.V
Journal title:European journal of pediatrics, 2019-03, Vol.178 (3), p.323-329
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Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and A...
Author / Creator:Papadopoulou, Anna ; Bountouvi, Evangelia ; Gole, Evangelia ; Doulgeraki, Artemis ; Tournis, Symeon ; Papadimitriou, Anastasios ; Nicolaidou, Polyxeni
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2014-01, Vol.82 (3), p.206-212
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Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients

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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

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The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders

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Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece

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Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and A...

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