Carolina Sismani

ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 22

Top Venues

Genes

BMC medical genomics

PloS one

Case reports in genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. BMC medical genomics 17 (1) (2024)
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. BMC medical genomics 17 (1) (2024)
Constantinos Patsalis, Skevi Kyriakou, Michaella Georgiadou, Lygia Ioannou, Louisa Constantinou, Valando Soteriou, Antonis Jossif, Paola Evangelidou, Carolina Sismani, Elena Kypri, Marios Ioannides, George Koumbaris
Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study. American journal of medical genetics. Part A (2024)
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. BMC medical genomics 17 (1) (2024)
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. BMC medical genomics 17 (1) (2024)
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C Anastasiadou, Carolina Sismani
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies. Genes 15 (1) (2024)
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C Anastasiadou, Carolina Sismani
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies. Genes 15 (1) (2024)
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C Anastasiadou, Carolina Sismani
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies. Genes 15 (1) (2024)
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C Anastasiadou, Carolina Sismani
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies. Genes 15 (1) (2024)
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. Genes 14 (1) (2022)
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. Genes 14 (1) (2022)
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. Genes 14 (1) (2022)
Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. Genes 14 (1) (2022)
Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population. PloS one 16 (7) (2021)
Carolina Sismani, Stamatia-Maria Rapti, Pavlina Iliopoulou, Anastasia Spring, Rozalia Neroutsou, Magdalini Lagou, Marianna Robola, Efstathios Tsitsopoulos, Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Athina Theodosiou, Maria Syrrou, Sigrid Fuchs, Maja Hempel, Dagmar Huhle, Thomas Liehr, Monika Ziegler, Max Duesberg, Voula Velissariou
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population. Journal of human genetics 65 (9) (2020)
Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou-Anastasiadou, Carolina Sismani
De novo mosaic MECP2 mutation in a female with Rett syndrome. Clinical case reports 7 (2) (2019)
Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Goncalves, Diane N Abuelo, Sabrina Rita Giglio, Ivana Ricca, Fabrizia Franchi, Philippos C Patsalis, Carolina Sismani, María Angeles Morí, Julián Nevado, Niels Tommerup, Orsetta Zuffardi
De novo unbalanced translocations have a complex history/aetiology. Human genetics 137 (10) (2018)
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M Mehrjouy, Niels Tommerup, Carolina Sismani
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement. Molecular cytogenetics 11 (2018)
Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, George Tanteles, Violetta C Anastasiadou, Carolina Sismani
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene. American journal of medical genetics. Part A 179 (1) (2018)
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. PloS one 13 (10) (2018)
Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PloS one 12 (1) (2017)
Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E Konstantinidou, Voula Velissariou
A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus. Case reports in genetics 2015 (2015)
Vassos Neocleous, Panayiotis K Yiallouros, George A Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C Patsalis, Carolina Sismani, Leonidas A Phylactou
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. Case reports in genetics 2014 (2014)

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Publication Activity (10 Years)

Top Topics

Top Venues

Carolina Sismani