Search Results - "Singhellakis, Panagiotis N"

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations by Ichikawa, Shoji, Baujat, Geneviève, Seyahi, Aksel, Garoufali, Anastasia G., Imel, Erik A., Padgett, Leah R., Austin, Anthony M., Sorenson, Andrea H., Pejin, Zagorka, Topouchian, Vicken, Quartier, Pierre, Cormier-Daire, Valerie, Dechaux, Michele, Malandrinou, Fotini Ch, Singhellakis, Panagiotis N., Le Merrer, Martine, Econs, Michael J.

“…The GALNT3 gene encodes GalNAc‐T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either…”
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Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels by Whyte, Michael P, Singhellakis, Panagiotis N, Petersen, Michael B, Davies, Michael, Totty, William G, Mumm, Steven

“…The oldest person (60 yr) with juvenile Paget's disease is homozygous for the TNFRSF11B mutation 966_969delTGACinsCTT. Elevated circulating levels of…”
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Association of prolactin receptor (PRLR) variants with prolactinomas by Gorvin, Caroline M, Newey, Paul J, Rogers, Angela, Stokes, Victoria, Neville, Matt J, Lines, Kate E, Ntali, Georgia, Lees, Peter, Morrison, Patrick J, Singhellakis, Panagiotis N, Malandrinou, Fotini Ch, Karavitaki, Niki, Grossman, Ashley B, Karpe, Fredrik, Thakker, Rajesh V

“…Abstract Prolactinomas are the most frequent type of pituitary tumors, which represent 10–20% of all intracranial neoplasms in humans. Prolactinomas develop in…”
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Denosumab Treatment for Juvenile Paget's Disease: Results From Two Adult Patients With Osteoprotegerin Deficiency (“Balkan” Mutation in the TNFRSF11B Gene) by Polyzos, Stergios A, Singhellakis, Panagiotis N, Naot, Dorit, Adamidou, Fotini, Malandrinou, Fotini C, Anastasilakis, Athanasios D, Polymerou, Vaia, Kita, Marina

“…Context: Most patients with juvenile Paget's disease (JPD) have homozygous loss-of-function mutations in the TNFRSF11B gene resulting in osteoprotegerin…”
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Vitamin D deficiency in white, apparently healthy, free-living adults in a temperate region by Singhellakis, Panagiotis N., Malandrinou, Fotini Ch, Psarrou, Catherine J., Danelli, Alexandra M., Tsalavoutas, Sotirios D., Constandellou, Evangelia S.

“…OBJECTIVE: The precise incidence of vitamin D deficiency is not known, primarily because there is no consensus on the optimal levels of serum 25(OH)Vitamin D…”
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