Full Text Journal Articles by
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Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.

Charikleia Kelaidi, Alexandros Makis, Loizos Petrikkos, Kondilia Antoniadi, Nikoletta Selenti, Vasiliki Tzotzola, Eleni-Dikaia Ioannidou, Konstantinos Tsitsikas, Vassiliki Kitra, Ariadni Kalpini-Mavrou, Helen Fryssira, Sophia Polychronopoulou,

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 center. According to Hôpital Saint-Louis risk classification for FA, patients were classified in stage A (no or mild cytopenia/dysplasia), B ... Read more >>

J. Pediatr. Hematol. Oncol. (Journal of pediatric hematology/oncology)
[2019, 41(8):612-617]

Cited: 1 time

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Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome.

Pehlivanidis Artemios, Spyropoulou Areti, Papanikolaou Katerina, Fryssira Helen, Tsoytsoy Eirini, Papageorgiou Charalambos,

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. ... Read more >>

J Autism Dev Disord (Journal of autism and developmental disorders)
[2019, 49(7):3031-3035]

Cited: 2 times

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

Vasiliki Zouvelou, Delia Yubero, Loukia Apostolakopoulou, Eleftheria Kokkinou, Manolis Bilanakis, Zoi Dalivigka, Ioannis Nikas, Elissavet Kollia, Belen Perez-Dueñas, Alfons Macaya, Anna Marcé-Grau, Antonis Voutetakis, Katerina Anagnostopoulou, Kiriaki Kekou, Christalena Sofocleus, Danae Veltra, Xaralabos Kokkinis, Helen Fryssira, Rosa J Torres, Judith Amstrong, Filippo M Santorelli, Rafael Artuch, Roser Pons,

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 clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2019, 23(3):427-437]

Cited: 1 time

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

Maria Tsipi, Myrto Poulou, Irene Fylaktou, Konstantina Kosma, Eirini Tsoutsou, Maria-Roser Pons, Eleftheria Kokkinou, Sofia Kitsiou-Tzeli, Helen Fryssira, Maria Tzetis,

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 and add to the NF1 mutation spectrum. A screening protocol based on genomic DNA was established in 168 patients, encompassing ... Read more >>

J. Neurol. Sci. (Journal of the neurological sciences)
[2018, 395:95-105]

Cited: 4 times

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Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication.

Aris Giannakopoulos, Helen Fryssira, Maria Tzetis, Athina Xaidara, Christina Kanaka-Gantenbein,

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 report the occurrence of central precocious puberty in a boy diagnosed with Phelan-McDermid syndrome. At the age of 1 year, ... Read more >>

J. Pediatr. Endocrinol. Metab. (Journal of pediatric endocrinology & metabolism : JPEM)
[2016, 29(11):1307-1311]

Cited: 1 time

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Aude-Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Helen Fryssira, Usha Kini, Pablo Lapunzina, Peter Miny, Mette Sommerlund, Mohnish Suri, Signe Vaeth, Pradeep Vasudevan, Sabina Gallati,

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 Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2016, 4(3):359-366]

Cited: 3 times

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A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

Nikolaos Settas, Margarita Anapliotou, Emmanuel Kanavakis, Helen Fryssira, Christalena Sofocleous, Catherine Dacou-Voutetakis, George P Chrousos, Antonis Voutetakis,

This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).This study reports on the case of a woman with POI, BPES, and autoimmune endocrine disorder. Bidirectional sequencing of the coding regions and intron/exon boundaries of FOXL2 and ... Read more >>

Menopause (Menopause (New York, N.Y.))
[2015, 22(11):1264-1268]

Cited: 3 times

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Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Mrinmoy Sanyal, Marie Morimoto, Alireza Baradaran-Heravi, Kunho Choi, Neeraja Kambham, Kent Jensen, Suparna Dutt, Kira Y Dionis-Petersen, Lan Xiang Liu, Katie Felix, Christy Mayfield, Benjamin Dekel, Arend Bokenkamp, Helen Fryssira, Encarna Guillen-Navarro, Giuliana Lama, Milena Brugnara, Thomas Lücke, Ann Haskins Olney, Tracy E Hunley, Ayse Ipek Polat, Uluc Yis, Radovan Bogdanovic, Katarina Mitrovic, Susan Berry, Lydia Najera, Behzad Najafian, Mattia Gentile, C Nur Semerci, Michel Tsimaratos, David B Lewis, Cornelius F Boerkoel,

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 SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of ... Read more >>

Clin. Immunol. (Clinical immunology (Orlando, Fla.))
[2015, 161(2):355-365]

Cited: 7 times

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Medical genetics and genomic medicine in Greece: achievements and challenges.

Irini Manoli, Helen Fryssira,

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2015, 3(5):383-390]

Cited: 1 time

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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.

Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, Krinio Giannikou, Sofia Kitsiou-Tzeli, Helen Fryssira,

[This corrects the article DOI: 10.1186/s13039-015-0169-9.]. ... Read more >>

(Molecular cytogenetics)
[2015, 8:73]

Cited: 0 times

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

Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, Krinio Gianikou, Sofia Kitsiou-Tzeli, Helen Fryssira,

BACKGROUND:There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer-Giedion syndrome (LGS) or TRPS type ... Read more >>

(Molecular cytogenetics)
[2015, 8:64]

Cited: 3 times

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A novel large deletion of the ICR1 region including H19 and putative enhancer elements.

Helen Fryssira, Stella Amenta, Deniz Kanber, Christalena Sofocleous, Evangelia Lykopoulou, Christina Kanaka-Gantenbein, Flavia Cerrato, Hermann-Josef Lüdecke, Susanne Bens, Andrea Riccio, Karin Buiting,

Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the IGF2/H19 locus resulting in biallelic expression of IGF2 and biallelic silencing of H19 account for ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2015, 16:30]

Cited: 6 times

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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg, Pierre-Simon Rohrlich,

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region ... Read more >>

J Hematol Oncol (Journal of hematology & oncology)
[2014, 7:82]

Cited: 4 times

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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Periklis Makrythanasis, Mari Nelis, Federico A Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané, Amira Masri, Mona S Aglan, Maha S Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou-Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al-Allawi, Abdelaziz Sefiani, Sana' Al Hait, Siham C Elalaoui, Nadine Jalkh, Lihadh Al-Gazali, Fatma Al-Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, David N Cooper, Hanan Hamamy, Stylianos E Antonarakis,

Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify the underlying molecular defects in patients with unresolved but putatively autosomal-recessive disorders in consanguineous families and postulated ... Read more >>

Hum. Mutat. (Human mutation)
[2014, 35(10):1203-1210]

Cited: 33 times

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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche,

BACKGROUND: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. METHODS: ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2014, 9:53]

Cited: 10 times

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

Areti Syrmou, Maria Tzetis, Helen Fryssira, Konstantina Kosma, Vasilis Oikonomakis, Krinio Giannikou, Periklis Makrythanasis, Sophia Kitsiou-Tzeli, Emmanuel Kanavakis,

BACKGROUND: Congenital heart diseases (CHDs) are often associated with other congenital anomalies, dysmorphic features, and developmental delay, and only a few cases of chromosomal abnormalities are detected by conventional cytogenetic techniques. The microarray comparative genomic hybridization (CGH) analysis allows the identification of submicroscopic genomic rearrangements. METHODS: During the past 3 ... Read more >>

Pediatr. Res. (Pediatric research)
[2013, 73(6):772-776]

Cited: 12 times

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

Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Areti Syrmou, Vasilis Oikonomakis, Konstantina Kosma, Anastasia Kanioura, Emmanuel Kanavakis, Helen Fryssira,

A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype-phenotype correlation and accurate definition ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2013, 17(3):316-320]

Cited: 2 times

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COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study.

Dimitrios Kontis, Eirini Theochari, Helen Fryssira, Spyridon Kleisas, Christalena Sofocleous, Angeliki Andreopoulou, Stamatina Kalogerakou, Anthia Gazi, Lucia Boniatsi, Alexandros Chaidemenos, Eleftheria Tsaltas,

The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate reductase (MTHFR-[rs1801133]) polymorphisms' interaction might shed light into the pathogenetic mechanisms of the cognitive dysfunction in schizophrenia. In an exploratory study, we hypothesized that the MTHFR 677T allele which has been related to a hypoactive MTHFR enzyme would augment the unfavorable effects ... Read more >>

Neurosci. Lett. (Neuroscience letters)
[2013, 537:17-22]

Cited: 19 times

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp, Dominique Bonneau, Anna Buck, Joel Charrow, Pierre Cochat, Isabel Cordeiro, Georges Deschenes, M Semin Fenkçi, Pierre Frange, Stefan Fründ, Helen Fryssira, Encarna Guillen-Navarro, Kory Keller, Salman Kirmani, Christine Kobelka, Petra Lamfers, Elena Levtchenko, David B Lewis, Laura Massella, D Ross McLeod, David V Milford, François Nobili, Jorge M Saraiva, C Nur Semerci, Lawrence Shoemaker, Nataša Stajić, Anja Stein, Doris Taha, Dorothea Wand, Jonathan Zonana, Thomas Lücke, Cornelius F Boerkoel,

Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.We reviewed the records of 65 patients ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2012, 7:70]

Cited: 14 times

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A rare case of a male with 45, XO, SRY+, ZFY+ with short stature and mild Turner stigmata.

Georgia Ntali, Christalena Sofocleous, Elisabeth Kouvidi, Georgia Tsagaraki, Maria Dolianiti, Asteroula Kaimara-Papathanasiou, Helen Fryssira,

Turner syndrome is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation.We present the rare case of a 4-year-old boy who was referred to the pediatric endocrinology unit for evaluation of slight growth delay.Standard cytogenetic analysis showed a 45,XO karyotype. Molecular studies ... Read more >>

Horm Res Paediatr (Hormone research in paediatrics)
[2012, 78(2):127-134]

Cited: 1 time

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

Krinio Giannikou, Helen Fryssira, Vasilis Oikonomakis, Areti Syrmou, Konstantina Kosma, Maria Tzetis, Sofia Kitsiou-Tzeli, Emmanouel Kanavakis,

High resolution oligonucleotide array Comparative Genome Hybridization technology (array-CGH) has greatly assisted the recognition of the 1p36 contiguous gene deletion syndrome. The 1p36 deletion syndrome is considered to be one of the most common subtelomeric microdeletion syndromes and has an incidence of ~1 in 5000 live births, while respectively the ... Read more >>

Gene (Gene)
[2012, 506(2):360-368]

Cited: 14 times

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

Anna Papadopoulou, Michalis Issakidis, Evangelia Gole, Konstantina Kosma, Helen Fryssira, Andreas Fretzayas, Polyxeni Nicolaidou, Sophia Kitsiou-Tzeli,

Noonan syndrome (NS) is a common multiple congenital anomaly entity, the diagnosis of which, on clinical grounds, is based on a comprehensive scoring system in order to select patients for molecular confirmation. Our aim was to evaluate the phenotypic characteristics in the light of PTPN11 mutations. The study revealed 80 ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2012, 171(1):51-58]

Cited: 8 times

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Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.

Helen Fryssira, Talia Kakourou, Manthoula Valari, Kaliopi Stefanaki, Stella Amenta, Emmanuel Kanavakis,

AIM: To describe and evaluate the clinical and molecular findings of patients with incontinentia pigmenti (IP) in Greece. METHODS: We examined 12 female patients, initially aged 2 weeks to 7 months with clinical diagnosis of IP. Standard tests were performed including skin biopsies and ocular, dental and neurologic examinations. Molecular ... Read more >>

Acta Paediatr. (Acta paediatrica (Oslo, Norway : 1992))
[2011, 100(1):128-133]

Cited: 6 times

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Nonverbal communication, play, and language in Greek young children with Williams syndrome.

Christina F Papaeliou, Helen Fryssira, Anastassios Kodakos, Maria Kaila, Evangelia Benaveli, Konstantinos Michaelides, Vassilis Stroggilos, Maria Vrettopoulou, Nikitas Polemikos,

This study investigated nonverbal communicative abilities, functional play, and symbolic play in 11 toddlers with Williams syndrome (WS) during spontaneous communication. The WS group was compared with a group of typically developing (TD) children matched for linguistic abilities. Results demonstrated that children with WS exhibited significantly less spontaneous functional play ... Read more >>

Child Neuropsychol (Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence)
[2011, 17(3):225-241]

Cited: 2 times

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Schimke immunoosseous dysplasia: defining skeletal features.

Kshamta B Hunter, Thomas Lücke, Jürgen Spranger, Sarah F Smithson, Harika Alpay, Jean-Luc André, Yumi Asakura, Radovan Bogdanovic, Dominique Bonneau, Robyn Cairns, Karlien Cransberg, Stefan Fründ, Helen Fryssira, David Goodman, Knut Helmke, Barbara Hinkelmann, Guiliana Lama, Petra Lamfers, Chantal Loirat, Silvia Majore, Christy Mayfield, Bertram F Pontz, Cristina Rusu, Jorge M Saraiva, Beate Schmidt, Lawrence Shoemaker, Sabine Sigaudy, Natasa Stajic, Doris Taha, Cornelius F Boerkoel,

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2010, 169(7):801-811]

Cited: 8 times

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