Deletion of p2 promoter of GJB1 gene a cause of charcot-marie-tooth disease
Kulshrestha, R, Burton-Jones, S, Antoniadi, T, Rogers, M, Jaunmuktane, Z, Brandner, S, Kiely, N, Manuel, R, Willis, T
Published in Neuromuscular disorders : NMD (01.08.2017)
Published in Neuromuscular disorders : NMD (01.08.2017)
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A novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhidrosis (CIPA)
Forrester, N, Burton-Jones, S, Antoniadi, T, Norman, A, Majumdar, A, Vijayakumar, K
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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G.P.240
Majumdar, A, Vijayakumar, K, Merrison, A, Buxton, C, Burton-Jones, S, Crosby, C, Antoniadi, T
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P72 Unraveling the genetic cause in patients with inherited peripheral neuropathy using gene panel testing
Buxton, C, Burton-Jones, S, Crosby, C, Scurr, I, Majumdar, A, Williams, M, Antoniadi, T
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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P3.21 A missense mutation in Mitofusin 2 causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a child
Hewawitharana, G.P, Antoniadi, T, Faulkner, C, Williams, M, Rankin, J, Majumdar, A
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
Antoniadi, T., Grønskov, K., Sand, A., Pampanos, A., Brøndum-Nielsen, K., Petersen, M.B.
Published in Human mutation (01.07.2000)
Published in Human mutation (01.07.2000)
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High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
Antoniadi, T, Rabionet, R, Kroupis, C, Aperis, G A, Economides, J, Petmezakis, J, Economou-Petersen, E, Estivill, X, Petersen, M B
Published in Clinical genetics (01.05.1999)
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Published in Clinical genetics (01.05.1999)
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Prelingual nonsyndromic hearing loss in Greece: Molecular and clinical findings
ILIADES, T, ELEFTHERIADES, N, KONSTANTOPOULOU, I, YANNOUKAKOS, D, GRIGORIADOU, M, SKEVAS, A, PETERSEN, M. B, ILIADOU, V, PAMPANOS, A, VOYIATZIS, N, ECONOMIDES, J, LEOTSAKOS, P, NEOU, P, TSAKANIKOS, M, ANTONIADI, T
Published in O.R.L. Journal for oto-rhino-laryngology and its related specialties (01.09.2002)
Published in O.R.L. Journal for oto-rhino-laryngology and its related specialties (01.09.2002)
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G.P.331 - A novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhidrosis (CIPA)
Forrester, N., Burton-Jones, S., Antoniadi, T., Norman, A., Majumdar, A., Vijayakumar, K.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors
Hatzis, T, Cardamakis, E, Drivalas, E, Makatsoris, K, Bevan, D, Pantos, C, Malliopoulou, V, Tsagaris, N, Kreatsa, O, Antoniadi, T, Petersen, M B, Karageorgiou, H, Mantouvalos, H
Published in The European journal of contraception & reproductive health care (01.09.1999)
Published in The European journal of contraception & reproductive health care (01.09.1999)
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G.P.240: Next Generation Sequencing reveals IGHMBP2 variants as a cause for distal hereditary motor neuronopathy in two children
Majumdar, A., Vijayakumar, K., Merrison, A., Buxton, C., Burton-Jones, S., Crosby, C., Antoniadi, T.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population
Kokotas, Haris, Grigoriadou, Maria, Hatzaki, Angeliki, Antoniadi, Thalia, Giannoulia-Karantana, Aglaia, Petersen, Michael B
Published in Genetic testing and molecular biomarkers (01.04.2010)
Published in Genetic testing and molecular biomarkers (01.04.2010)
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Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association
Karadimas, Charalampos, Trouvas, Dimitrios, Haritatos, George, Makatsoris, Constantinos, Dedoulis, Evangelos, Velissariou, Voula, Antoniadi, Thalia, Hatzaki, Angeliki, Petersen, Michael B.
Published in Prenatal diagnosis (01.03.2006)
Published in Prenatal diagnosis (01.03.2006)
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