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Items: 36

1.

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

Kosma K, Mitrakos A, Sofokleous C, Papadimas G, Fryssira H, Kitsiou-Tzeli S, Tzetis M.

Neuropediatrics. 2018 Dec 12. doi: 10.1055/s-0038-1676513. [Epub ahead of print]

PMID:
30541163
2.

Multiple Light Coupling and Routing via a Microspherical Resonator Integrated in a T-Shaped Optical Fiber Configuration System.

Konstantinou G, Milenko K, Kosma K, Pissadakis S.

Micromachines (Basel). 2018 Oct 15;9(10). pii: E521. doi: 10.3390/mi9100521.

3.

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.

Tsipi M, Poulou M, Fylaktou I, Kosma K, Tsoutsou E, Pons MR, Kokkinou E, Kitsiou-Tzeli S, Fryssira H, Tzetis M.

J Neurol Sci. 2018 Dec 15;395:95-105. doi: 10.1016/j.jns.2018.10.006. Epub 2018 Oct 4.

PMID:
30308447
4.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

5.

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.

Kolaitis G, Bouwkamp CG, Papakonstantinou A, Otheiti I, Belivanaki M, Haritaki S, Korpa T, Albani Z, Terzioglou E, Apostola P, Skamnaki A, Xaidara A, Kosma K, Kitsiou-Tzeli S, Tzetis M.

Child Adolesc Psychiatry Ment Health. 2016 Sep 15;10:33. doi: 10.1186/s13034-016-0121-8. eCollection 2016.

6.

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Tsipi M, Tzetis M, Kosma K, Moschos M, Braoudaki M, Poulou M, Kanavakis E, Kitsiou-Tzeli S.

Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun.

7.

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

Tzetis M, Konstantinidou A, Sofocleous C, Kosma K, Mitrakos A, Tzannatos C, Kitsiou-Tzeli S.

Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):536-41. doi: 10.1002/bdra.23492. Epub 2016 Mar 11.

PMID:
26969897
8.

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.

Clin Genet. 2016 Jun;89(6):708-18. doi: 10.1111/cge.12740. Epub 2016 Feb 9.

PMID:
26777411
9.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

10.

UBE3A, c.1347_1348delGA: a mutation in question.

Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S.

Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. No abstract available.

PMID:
26457786
11.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.

Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

12.

Rectal cancer surgery in older people does not increase postoperative complications--a retrospective analysis.

Singh J, Stift A, Brus S, Kosma K, Mittlböck M, Riss S.

World J Surg Oncol. 2014 Nov 23;12:355. doi: 10.1186/1477-7819-12-355.

13.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Karavitakis E, Kitsiou-Tzeli S, Xaidara A, Kosma K, Makrythanasis P, Apazidou E, Kanavakis E, Tzetis M.

Am J Med Genet A. 2014 Mar;164A(3):666-70. doi: 10.1002/ajmg.a.36346. Epub 2013 Dec 20.

PMID:
24375959
14.

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Fylaktou I, Megremis S, Mitsioni A, Kitsiou-Tzeli S, Kosma K, Bitsori M, Stefanidis CJ, Kanavakis E, Traeger Synodinos J.

J Genet. 2013 Dec;92(3):577-81. No abstract available.

15.

Whispering gallery mode microsphere resonator integrated inside a microstructured optical fiber.

Kosma K, Zito G, Schuster K, Pissadakis S.

Opt Lett. 2013 Apr 15;38(8):1301-3. doi: 10.1364/OL.38.001301.

PMID:
23595465
16.

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E.

Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12.

PMID:
23481551
17.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.

Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

PMID:
23352671
18.

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E.

Gene. 2012 Sep 15;506(2):360-8. doi: 10.1016/j.gene.2012.06.060. Epub 2012 Jul 2.

PMID:
22766398
19.

An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P, Kitsiou-Tzeli S.

Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):561-6. doi: 10.1002/bdra.23038. Epub 2012 Jun 22.

PMID:
22730277
20.

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M.

Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8. doi: 10.1002/bdra.23015. Epub 2012 Apr 18.

PMID:
22511562
21.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.

Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20.

PMID:
22037486
22.

CRASY: mass- or electron-correlated rotational alignment spectroscopy.

Schröter C, Kosma K, Schultz T.

Science. 2011 Aug 19;333(6045):1011-5. doi: 10.1126/science.1204352. Epub 2011 Jul 7.

23.

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Papadopoulou A, Issakidis M, Gole E, Kosma K, Fryssira H, Fretzayas A, Nicolaidou P, Kitsiou-Tzeli S.

Eur J Pediatr. 2012 Jan;171(1):51-8. doi: 10.1007/s00431-011-1487-5. Epub 2011 May 18.

PMID:
21590266
24.

Photodissociation of group-6 hexacarbonyls: observation of coherent oscillations in an antisymmetric (pseudorotation) vibration in Mo(CO)(5) and W(CO)(5).

Kosma K, Trushin SA, Fuss W, Schmid WE, Schneider BM.

Phys Chem Chem Phys. 2010 Oct 28;12(40):13197-214. doi: 10.1039/c0cp00731e. Epub 2010 Aug 31.

PMID:
20820586
25.

Excited-state dynamics of cytosine tautomers.

Kosma K, Schröter C, Samoylova E, Hertel IV, Schultz T.

J Am Chem Soc. 2009 Nov 25;131(46):16939-43. doi: 10.1021/ja907355a.

PMID:
19874018
26.

Chitotriosidase plasma activity in nephropathic cystinosis.

Xaidara A, Karavitakis EM, Kosma K, Emma F, Dimitriou E, Michelakakis H.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S157-9. doi: 10.1007/s10545-009-1118-8. Epub 2009 May 20.

PMID:
19455402
27.

Cyclohexadiene ring opening observed with 13 fs resolution: coherent oscillations confirm the reaction path.

Kosma K, Trushin SA, Fuss W, Schmid WE.

Phys Chem Chem Phys. 2009 Jan 7;11(1):172-81. doi: 10.1039/b814201g. Epub 2008 Nov 6.

PMID:
19081921
28.

Ultrafast dynamics and coherent oscillations in ethylene and ethylene-d4 excited at 162 nm.

Kosma K, Trushin SA, Fuss W, Schmid WE.

J Phys Chem A. 2008 Aug 21;112(33):7514-29. doi: 10.1021/jp803548c. Epub 2008 Jul 29.

PMID:
18661929
29.

[Neuroleptic Malignant Syndrome after whithdrawal of anticholinergic agents].

Kosma K, Roumbos B, Mamali M, Xipas K, Kolovou K, Kalogiratos G, Fortos A.

Psychiatriki. 2008 Jul;19(3):245-7. Greek, Modern.

PMID:
22218008
30.

Headache as a first manifestation of Vogt-Koyanagi-Harada disease.

Kosma KK, Kararizou E, Markou I, Eforakopoulou E, Kararizos G, Mitsonis C, Gkiatas K.

Med Princ Pract. 2008;17(3):253-4. doi: 10.1159/000117802. Epub 2008 Apr 10.

31.

Vacuum ultraviolet pulses of 11 fs from fifth-harmonic generation of a Ti:sapphire laser.

Kosma K, Trushin SA, Schmid WE, Fuss W.

Opt Lett. 2008 Apr 1;33(7):723-5.

PMID:
18382530
32.

Sub-10-fs supercontinuum radiation generated by filamentation of few-cycle 800 nm pulses in argon.

Trushin SA, Kosma K, Fuss W, Schmid WE.

Opt Lett. 2007 Aug 15;32(16):2432-4.

PMID:
17700809
33.

Changes in LORETA and conventional patterns of P600 after steroid treatment in multiple sclerosis patients.

Papageorgiou CC, Sfagos C, Kosma KK, Kontoangelos KA, Triantafyllou N, Vassilopoulos D, Rabavilas AD, Soldatos CR.

Prog Neuropsychopharmacol Biol Psychiatry. 2007 Jan 30;31(1):234-41. Epub 2006 Sep 7.

PMID:
16959393
34.

Serum ferritin, transferrin and soluble transferrin receptor levels in multiple sclerosis patients.

Sfagos C, Makis AC, Chaidos A, Hatzimichael EC, Dalamaga A, Kosma K, Bourantas KL.

Mult Scler. 2005 Jun;11(3):272-5.

PMID:
15957506
35.

Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece.

Chrysohoou C, Panagiotakos DB, Pitsavos C, Kosma K, Barbetseas J, Karagiorga M, Ladis I, Stefanadis C.

Lipids Health Dis. 2004 Mar 15;3:3.

36.

Working memory deficits in multiple sclerosis: a controlled study with auditory P600 correlates.

Sfagos C, Papageorgiou CC, Kosma KK, Kodopadelis E, Uzunoglu NK, Vassilopoulos D, Rabavilas AD.

J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1231-5.

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