Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
Oikonomakis, V., Kosma, K., Mitrakos, A., Sofocleous, C., Pervanidou, P., Syrmou, A., Pampanos, A., Psoni, S., Fryssira, H., Kanavakis, E., Kitsiou-Tzeli, S., Tzetis, M.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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Journal Article
Mutation spectrum and phenotypic manifestation in FSHD Greek patients
Sakellariou, P, Kekou, K, Fryssira, H, Sofocleous, C, Manta, P, Panousopoulou, A, Gounaris, K, Kanavakis, E
Published in Neuromuscular disorders : NMD (01.04.2012)
Published in Neuromuscular disorders : NMD (01.04.2012)
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Journal Article
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment
Del Fattore, A, Peruzzi, B, Rucci, N, Recchia, I, Cappariello, A, Longo, M, Fortunati, D, Ballanti, P, Iacobini, M, Luciani, M, Devito, R, Pinto, R, Caniglia, M, Lanino, E, Messina, C, Cesaro, S, Letizia, C, Bianchini, G, Fryssira, H, Grabowski, P, Shaw, N, Bishop, N, Hughes, D, Kapur, R P, Datta, H K, Taranta, A, Fornari, R, Migliaccio, S, Teti, A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Journal Article
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)
Hoffer, JL, Fryssira, H, Konstantinidou, AE, Ropers, H−H, Tzschach, A
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
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Journal Article
Dental Abnormalities in Schimke Immuno-osseous Dysplasia
Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., DeHaai, K.A., Fenkçi, M.S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C., Kohler, K., Lewis, D.B., Massella, L., McLeod, D.R., Milford, D.V., Nobili, F., Olney, A.H., Semerci, C.N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M., Boerkoel, C.F.
Published in Journal of dental research (01.07.2012)
Published in Journal of dental research (01.07.2012)
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Journal Article
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay
Fryssira, H, Tsoutsou, E, Psoni, S, Amenta, S, Liehr, T, Anastasakis, E, Skentou, Ch, Ntouflia, A, Papoulidis, I, Manolakos, E, Chaliasos, N
Published in Molecular cytogenetics (02.08.2016)
Published in Molecular cytogenetics (02.08.2016)
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Journal Article
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
Howald, C, Merla, G, Digilio, M C, Amenta, S, Lyle, R, Deutsch, S, Choudhury, U, Bottani, A, Antonarakis, S E, Fryssira, H, Dallapiccola, B, Reymond, A
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner-Eidenböck, A, Rimoin, D L, Siderius, L, Superti-Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster
Fryssira, H., Makrythanasis, P., Kattamis, A., Stokidis, K., Menten, B., Kosaki, K., Willems, P., Kanavakis, E.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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Journal Article
10 Years' Experience in Fragile X Testing Among Mentally Retarded Individuals in Greece: A Molecular and Epidemiological Approach
Sofocleous, C, Kitsiou, S, Fryssira, H, Kolialexi, A, Kalaitzidaki, M, Roma, E, Tsangaris, G Th, Chistofidou, C, Metaxotou, C, Kanavakis, E, Mavrou, A
Published in In vivo (Athens) (01.07.2008)
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Published in In vivo (Athens) (01.07.2008)
Journal Article
Detection of 22q11.2 Deletion Among 139 Patients with Di George/Velocardiofacial Syndrome Features
Kitsiou-Tzeli, S, Kolialexi, A, Fryssira, H, Galla-Voumvouraki, A, Salavoura, K, Kanariou, M, Tsangaris, G Th, Kanavakis, E, Mavrou, A
Published in In vivo (Athens) (01.09.2004)
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Published in In vivo (Athens) (01.09.2004)
Journal Article
Clinical manifestations in 17 Greek patients with Goldenhar syndrome
Touliatou, V, Fryssira, H, Mavrou, A, Kanavakis, E, Kitsiou-Tzeli, S
Published in Genetic counseling (2006)
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Published in Genetic counseling (2006)
Journal Article
Two cases of Sotos syndrome with novel mutations of the NSD1 gene
Fryssira, H, Drossatou, P, Sklavou, R, Barambouti, F, Manolaki, N
Published in Genetic counseling (2010)
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Published in Genetic counseling (2010)
Journal Article
Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype
Kanaka-Gantenbein, Ch, Papandreou, E., Stefanaki, K., Fryssira, H., Kolialexi, A., Sophocleous, C., Mavrou, A., Kitsiou-Tzeli, S., Chrousos, G. P.
Published in Hormone research (01.01.2007)
Published in Hormone research (01.01.2007)
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Journal Article
Identification of Autosomal Supernumerary Chromosome Markers (SMCs) by Fluorescent In Situ Hybridization (FISH)
Kolialexi, A, Kitsiou, S, Fryssira, H, Sofocleous, C, Kouvidi, E, Tsangaris, G Th, Salavoura, K, Mavrou, A
Published in In vivo (Athens) (01.07.2006)
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Published in In vivo (Athens) (01.07.2006)
Journal Article
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome
Voutoufianakis, S, Psoni, S, Vorgia, P, Tsekoura, F, Kekou, K, Traeger-Synodinos, J, Kitsiou, S, Kanavakis, E, Fryssira, H
Published in European journal of paediatric neurology (01.07.2007)
Published in European journal of paediatric neurology (01.07.2007)
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Journal Article
Geleophysic dysplasia: a patient with a severe form of the disorder
Panagopoulos, P, Fryssira, H, Koutras, I, Daskalakis, G, Economou, A, Benetou, V, Antsaklis, A
Published in Journal of obstetrics and gynaecology (01.11.2005)
Published in Journal of obstetrics and gynaecology (01.11.2005)
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Journal Article
Cohen syndrome : two new cases in siblings
THOMAIDIS, L, FRYSSIRA, H, KATSAROU, E, METAXOTOU, C
Published in European journal of pediatrics (01.10.1999)
Published in European journal of pediatrics (01.10.1999)
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