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Author/Creator Kosma, Konstantina

1. A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47, XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion. Issue 1 (December 2016)

Authors:
Kolaitis, Gerasimos; Bouwkamp, Christian; Papakonstantinou, Alexia; Otheiti, Ioanna; Belivanaki, Maria; Haritaki, Styliani; Korpa, Terpsihori; Albani, Zinovia; Terzioglou, Elena; Apostola, Polyxeni; Skamnaki, Aggeliki; Xaidara, Athena; Kosma, Konstantina; Kitsiou-Tzeli, Sophia; Tzetis, Maria
Journal:
Child and adolescent psychiatry and mental health
Issue:
Volume 10:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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2. Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms. (2nd January 2023)

Authors:
Veltra, Danai; Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M.; Svingou, Maria; Mitrakos, Anastasios; Kosma, Konstantina; Tsoutsou, Irene; Makrythanasis, Periklis; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Vartzelis, Georgios; Dinopoulos, Argirios; Evangeliou,...
Journal:
Expert review of molecular diagnostics
Issue:
Volume 23:Number 1(2023)
Page Start:
85
Record Type:
Journal Article
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3. Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses. Issue 7 (11th March 2016)

Authors:
Tzetis, Maria; Konstantinidou, Anastasia; Sofocleous, Christalena; Kosma, Konstantina; Mitrakos, Anastasios; Tzannatos, Christina; Kitsiou‐Tzeli, Sofia
Journal:
Birth defects research
Issue:
Volume 106:Issue 7(2016)
Page Start:
536
Record Type:
Journal Article
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4. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience. Issue 7 (3rd October 2019)

Authors:
Kokkinou, Eleftheria; Roka, Kleoniki; Alexopoulos, Alexis; Tsina, Efthymia; Nikas, Ioannis; Krallis, Panagiotis; Thanopoulou, Ioanna; Nasi, Lambrini; Makrygianni, Evanthia; Tsoutsou, Eirini; Kosma, Konstantina; Tsipi, Maria; Tzetis, Maria; Frysira, Helen; Kattamis, Antonis; Pons, Roser
Journal:
Postgraduate medicine
Issue:
Volume 131:Issue 7(2019)
Page Start:
445
Record Type:
Journal Article
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5. Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies. Issue 3 (20th December 2013)

Authors:
Karavitakis, Emmanouil; Kitsiou‐Tzeli, Sofia; Xaidara, Athena; Kosma, Konstantina; Makrythanasis, Periklis; Apazidou, Eleni; Kanavakis, Emmanuel; Tzetis, Maria
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 3(2014.)
Page Start:
666
Record Type:
Journal Article
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6. NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1). (3rd June 2022)

Authors:
Roka, Kleoniki; Kokkinou, Eleftheria; Gavra, Maria; Tsina, Efthymia; Mparka, Konstantina; Zarafonitis, Georgios; Kosma, Konstantina; Makrythanasis, Periklis; Tzetis, Maria; Chasiotou, Maria; Kanaka-Gantenbein, Christina; Pons, Roser; Kattamis, Antonis
Journal:
Neuro-oncology
Issue:
Volume 24(2022)Supplement 1
Page Start:
i131
Record Type:
Journal Article
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7. Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Issue 8 (19th May 2021)

Authors:
Marinakis, Nikolaos M.; Svingou, Maria; Veltra, Danai; Kekou, Kyriaki; Sofocleous, Christalena; Tilemis, Faidon‐Nikolaos; Kosma, Konstantina; Tsoutsou, Eirini; Fryssira, Helen; Traeger‐Synodinos, Joanne
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2561
Record Type:
Journal Article
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8. The TREAT‐NMD DMD Global Database: Analysis of More than 7, 000 Duchenne Muscular Dystrophy Mutations. Issue 4 (17th March 2015)

Authors:
Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Pe...
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
395
Record Type:
Journal Article
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