Search Results - "Gole, Evangelia"

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes by Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki

“…Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the gene encoding…”
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Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II by Fretzayas, Andreas, Gole, Evangelia, Attilakos, Achilleas, Daskalaki, Anna, Nicolaidou, Polyxeni, Papadopoulou, Anna

“…Bartter syndrome (BS) is a group of genetic disorders characterized by hypokalemic metabolic alkalosis, hyponatremia and elevated renin and aldosterone plasma…”
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Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment by Papadopoulou, Anna, Issakidis, Michalis, Gole, Evangelia, Kosma, Konstantina, Fryssira, Helen, Fretzayas, Andreas, Nicolaidou, Polyxeni, Kitsiou-Tzeli, Sophia

“…Noonan syndrome (NS) is a common multiple congenital anomaly entity, the diagnosis of which, on clinical grounds, is based on a comprehensive scoring system in…”
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3571 GROWTH PATTERNS IN PEDIATRIC KIDNEY TRANSPLANT RECIPIENTS: A RETROSPECTIVE SINGLE CENTER STUDY by Askiti, Varvara, Malakasioti, Georgia, Gole, Evangelia, Mitsioni, Andromachi

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Effect of Leflunomide on Treatment of Pediatric Renal Transplant Recipients With BK Virus Infection by Gole, Evangelia, Mitsioni, Andromachi, Darema, Maria, Malakasioti, Georgia, Askiti, Varvara

“…Infection with the BK virus is a significant complication after renal transplant and can progress to BK virus nephropathy and graft dysfunction. There is no…”
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Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece by Papadopoulos, Iordanis, Bountouvi, Evangelia, Attilakos, Achilleas, Gole, Evangelia, Dinopoulos, Argirios, Peppa, Melpomeni, Nikolaidou, Polyxeni, Papadopoulou, Anna

“…Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of…”
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Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1 by Papadopoulou, Anna, Gole, Evangelia, Melachroinou, Katerina, Trangas, Theoni, Bountouvi, Evaggelia, Papadimitriou, Anastasios

“…OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (…”
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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 alopecia by Papadopoulou, Anna, Bountouvi, Evangelia, Gole, Evangelia, Doulgeraki, Artemis, Tournis, Symeon, Papadimitriou, Anastasios, Nicolaidou, Polyxeni

“…We analyzed the vitamin D receptor (VDR) gene in 2 Greek patients who exhibited the classical features of hereditary vitamin D-resistant rickets (HVDRR) type…”
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Impact of Telephone Reminders on Attendance Rate at Paediatric Clinics by Ahmed, Mansoor, Chinnappan, Sujatha, Gole, Evangelia, Martin, Benjamin, Manzoor, Azhar

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Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia by Papadopoulou, Anna, Gole, Evangelia, Melachroinou, Katerina, Meristoudis, Christos, Siahanidou, Tania, Papadimitriou, Anastasios

“…Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To…”
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Expanding the spectrum of genetic mutations in antenatal B artter syndrome type II by Fretzayas, Andreas, Gole, Evangelia, Attilakos, Achilleas, Daskalaki, Anna, Nicolaidou, Polyxeni, Papadopoulou, Anna

“…B artter syndrome ( BS ) is a group of genetic disorders characterized by hypokalemic metabolic alkalosis, hyponatremia and elevated renin and aldosterone…”
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Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II by Fretzayas, Andreas, Gole, Evangelia, Attilakos, Achilleas, Daskalaki, Anna, Nicolaidou, Polyxeni, Papadopoulou, Anna

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