Fryssira H - Search Results

1

Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.

Kelaidi C, Makis A, Petrikkos L, Antoniadi K, Selenti N, Tzotzola V, Ioannidou ED, Tsitsikas K, Kitra V, Kalpini-Mavrou A, Fryssira H, Polychronopoulou S. Kelaidi C, et al. Among authors: fryssira h. J Pediatr Hematol Oncol. 2019 Nov;41(8):612-617. doi: 10.1097/MPH.0000000000001549. J Pediatr Hematol Oncol. 2019. PMID: 31259830

2

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Selenti N, Tzetis M, Braoudaki M, Giannikou K, Kitsiou-Tzeli S, Fryssira H. Selenti N, et al. Among authors: fryssira h. Mol Cytogenet. 2015 Sep 30;8:73. doi: 10.1186/s13039-015-0174-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 26430469 Free PMC article.

3

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Selenti N, Tzetis M, Braoudaki M, Gianikou K, Kitsiou-Tzeli S, Fryssira H. Selenti N, et al. Among authors: fryssira h. Mol Cytogenet. 2015 Aug 12;8:64. doi: 10.1186/s13039-015-0169-9. eCollection 2015. Mol Cytogenet. 2015. PMID: 26269715 Free PMC article.

4

Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.

Amenta S, Sofocleous C, Kolialexi A, Thomaidis L, Giouroukos S, Karavitakis E, Mavrou A, Kitsiou S, Kanavakis E, Fryssira H. Amenta S, et al. Among authors: fryssira h. Pediatr Res. 2005 Jun;57(6):789-95. doi: 10.1203/01.PDR.0000157675.06850.68. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774842

5

A clinical study of Sotos syndrome patients with review of the literature.

Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. Leventopoulos G, et al. Among authors: fryssira h. Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Pediatr Neurol. 2009. PMID: 19380072 Review.

6

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. Syrmou A, et al. Among authors: fryssira h. Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12. Pediatr Res. 2013. PMID: 23481551

7

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. Tsipi M, et al. Among authors: fryssira h. J Neurol Sci. 2018 Dec 15;395:95-105. doi: 10.1016/j.jns.2018.10.006. Epub 2018 Oct 4. J Neurol Sci. 2018. PMID: 30308447

8

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.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: fryssira h. Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008892

9

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch R, Pons R. Zouvelou V, et al. Among authors: fryssira h. Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14. Eur J Paediatr Neurol. 2019. PMID: 30799092

10

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. Giannikou K, et al. Among authors: fryssira h. Gene. 2012 Sep 15;506(2):360-8. doi: 10.1016/j.gene.2012.06.060. Epub 2012 Jul 2. Gene. 2012. PMID: 22766398

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