Alpha 2.0
Login Register
» Authors » Helen Fryssira

Helen Fryssira

Explore the profile of Helen Fryssira including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 41
Citations 382
Followers 0
Related Specialties
Pediatrics
Genetics
Endocrinology
Top 10 Co-Authors
Emmanuel Kanavakis
Maria Tzetis
Christalena Sofocleous
Sophia Kitsiou-Tzeli
Konstantina Kosma
Stavroula Psoni
Christina Kanaka-Gantenbein
Sofia Kitsiou-Tzeli
Radovan Bogdanovic
Cornelius F Boerkoel
Published In
J Pediatr Endocrinol Metab
Am J Med Genet A
Eur J Pediatr
Spec Care Dentist
Hum Mutat
Affiliations
Soon will be listed here.
Recent Articles
1.
Oral manifestations of nine individuals with Williams syndrome. A case series
Vavetsi K, Panagopoulou O, Koromantzos P, Fryssira H, Bobetsis S, Emmanouil D, et al.
Spec Care Dentist . 2023 May; 44(2):438-449. PMID: 37243919
Aims: Williams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been...
2.
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, et al.
Nat Commun . 2023 Apr; 14(1):2026. PMID: 37041148
Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with...
3.
Oral manifestations of eleven individuals with Noonan syndrome. A case series
Vavetsi K, Panagopoulou O, Fryssira H, Bobetsis S, Emmanouil D, Madianos P, et al.
Spec Care Dentist . 2022 Sep; 43(4):492-500. PMID: 36117271
Aims: Noonan syndrome (NS) is a clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, and congenital heart defects. The oral manifestations have not been sufficiently described....
4.
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 N, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis F, et al.
Am J Med Genet A . 2021 May; 185(8):2561-2571. PMID: 34008892
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been described and almost 4500 causative gene(s) have been identified. The advent of next-generation sequencing (NGS) technologies has...
5.
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, et al.
J Pediatr Hematol Oncol . 2019 Jul; 41(8):612-617. PMID: 31259830
Prognostic refinement in Fanconi anemia (FA) is needed, especially when considering allogeneic hematopoietic stem cell transplantation (HCT). We studied 20 children with FA and bone marrow failure from a single...
6.
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, et al.
Eur J Paediatr Neurol . 2019 Feb; 23(3):427-437. PMID: 30799092
Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the...
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 M, et al.
J Neurol Sci . 2018 Oct; 395:95-105. PMID: 30308447
Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim of this study was to identify the genetic causes underlying the disease, attempt possible phenotype/genotype correlations...
8.
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
Suter A, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, et al.
Mol Genet Genomic Med . 2016 Jun; 4(3):359-66. PMID: 27247962
Background: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as...
9.
Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication
Giannakopoulos A, Fryssira H, Tzetis M, Xaidara A, Kanaka-Gantenbein C
J Pediatr Endocrinol Metab . 2016 May; 29(11):1307-1311. PMID: 27235670
The 22q13 deletion syndrome or Phelan-McDermid syndrome is a neurodevelopmental disorder associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic faces. We...
10.
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, et al.
Clin Immunol . 2015 Oct; 161(2):355-65. PMID: 26499378
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the...