H. Fryssira

发表

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

G. Chrousos, E. Kanavakis, C. Sofocleous, 2015, Menopause.

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

S. Kitsiou-Tzeli, A. Papadopoulou, H. Fryssira, 2011, European Journal of Pediatrics.

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

H. Fryssira, V. Kitra, C. Kelaidi, 2019, Journal of pediatric hematology/oncology.

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

E. Kanavakis, C. Sofocleous, H. Fryssira, 2012, Neuromuscular Disorders.

Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

K. Kosaki, E. Kanavakis, P. Makrythanasis, 2011, Molecular Syndromology.

Running headline: Functional play and language in Williams syndrome NON-VERBAL COMMUNICATION, FUNCTIONAL PLAY AND LANGUAGE IN GREEK TODDLERS WITH WILLIAMS SYNDROME

M. Kaila, H. Fryssira, C. Papaeliou, 2008 .

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

P. Wicart, J. Argente, P. Bougnères, 2012, The Journal of clinical endocrinology and metabolism.

Cohen syndrome: two new cases in siblings

H. Fryssira, L. Thomaidis, E. Katsarou, 1999, European Journal of Pediatrics.

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.

E. Denayer, P. Makrythanasis, H. Fryssira, 2010, Clinical and experimental rheumatology.

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

M. Kaila, H. Fryssira, C. Papaeliou, 2011, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment

E. Lanino, N. Bishop, A. Teti, 2005, Journal of Medical Genetics.

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

K. Anagnostopoulou, F. Santorelli, R. Artuch, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

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

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2013, Pediatric Research.

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

E. Kanavakis, C. Sofocleous, H. Fryssira, 2005, Pediatric Research.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

E. Kanavakis, S. Kitsiou-Tzeli, H. Fryssira, 2006, Genetic counseling.

Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings

G. Chrousos, C. Kanaka-Gantenbein, G. Mastorakos, 2004, American journal of medical genetics. Part A.

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

J. Soulier, P. Rohrlich, C. Borg, 2014, Journal of Hematology & Oncology.

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

M. Tzetis, E. Kanavakis, P. Makrythanasis, 2010, Journal of Human Genetics.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

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

E. Kanavakis, S. Kitsiou-Tzeli, H. Fryssira, 2009, Pediatric neurology.

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

C. Boerkoel, D. Lewis, A. Baradaran‐Heravi, 2015, Clinical immunology.

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

J. Charrow, C. Boerkoel, D. Lewis, 2012, Journal of dental research.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion.

C. Sofocleous, A. Mavrou, H. Fryssira, 2015, Molecular and cellular probes.

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

P. Vorgia, J. Traeger-Synodinos, H. Fryssira, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.

G. Tsangaris, E. Kanavakis, S. Kitsiou-Tzeli, 2004, In vivo.

Cantú Syndrome Associated with Ovarian Agenesis

C. Sofocleous, H. Fryssira, E. Manolakos, 2017, Molecular Syndromology.

Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia

G. Chrousos, C. Kanaka-Gantenbein, G. Mastorakos, 2006, Journal of pediatric endocrinology & metabolism : JPEM.

PHACE Syndrome: A New Case

A. Tsitsika, H. Fryssira, N. Manolaki, 2006, La Clinica pediatrica.

Tumor development in three patients with Noonan syndrome

E. Kanavakis, H. Fryssira, N. Stavrianeas, 2008, European Journal of Pediatrics.

Schimke immunoosseous dysplasia: defining skeletal features

C. Boerkoel, D. Bonneau, S. Smithson, 2009, European Journal of Pediatrics.

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

E. Kanavakis, H. Fryssira, T. Kakourou, 2011, Acta paediatrica.

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

A. Jauch, K. Kutsche, C. Zweier, 2014, Orphanet Journal of Rare Diseases.

Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype

G. Chrousos, C. Kanaka-Gantenbein, H. Fryssira, 2007, Hormone Research in Paediatrics.

A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stigmata

C. Sofocleous, H. Fryssira, G. Ntali, 2012, Hormone Research in Paediatrics.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Xavier Estivill, Andrew J Sharp, Stefano Vicari, 2013, Genome research.

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

M. Tzetis, C. Sofocleous, A. Pampanos, 2016, Clinical genetics.

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

S. Kitsiou‐Tzeli, M. Tzetis, K. Giannikou, 2012, Gene.

Unravelling X-Inactivation through Time: Implications of X-Linked Disorders in Humans

C. Sofocleous, H. Fryssira, S. Amenta, 2011 .

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

H. Fryssira, I. Chatziioannidis, P. Karagianni, 2016, American journal of medical genetics. Part A.

Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).

G. Tsangaris, C. Sofocleous, A. Mavrou, 2006, In vivo.

Growth Hormone Deficiency in a Child with Williams-Beuren Syndrome. The Response to Growth Hormone Therapy

P. Xekouki, C. Kanaka-Gantenbein, H. Fryssira, 2005, Journal of pediatric endocrinology & metabolism : JPEM.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

- Beuren syndrome patients with atypical segmental aneuploidies identify new Two high throughput technologies to detect

C. Howald, A. Reymond, S. Deutsch, 2006 .

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

C. Howald, A. Reymond, S. Antonarakis, 2005, Journal of Medical Genetics.

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

S. Kitsiou‐Tzeli, M. Tzetis, H. Fryssira, 2018, Journal of the Neurological Sciences.

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

A. Chaidemenos, C. Sofocleous, H. Fryssira, 2013, Neuroscience Letters.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

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

S. Bens, C. Kanaka-Gantenbein, C. Sofocleous, 2015, BMC Medical Genetics.

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

J. Traeger-Synodinos, C. Sofocleous, H. Fryssira, 2021, American journal of medical genetics. Part A.

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

H. Ropers, A. Tzschach, A. Konstantinidou, 2013, Clinical genetics.

10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.

G. Tsangaris, E. Kanavakis, C. Sofocleous, 2008, In vivo.

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

D. Zafeiriou, M. Tzetis, K. Giannikou, 2017, Pediatric Research.

Geleophysic dysplasia: A patient with a severe form of the disorder

H. Fryssira, V. Benetou, A. Antsaklis, 2005, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

K. Devriendt, J. Vermeesch, B. Thienpont, 2009, European journal of medical genetics.

Three Novel Mutations in Greek Sotos Patients with Rare Clinical Manifestations

E. Kanavakis, P. Willems, H. Fryssira, 2008, Hormone Research in Paediatrics.

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

W. Reardon, D. Donnai, H. Fryssira, 1997, Journal of medical genetics.

Non-Hodgkin lymphoma in a child with Williams syndrome.

M. Moschovi, C. Sofocleous, H. Fryssira, 2004, Cancer genetics and cytogenetics.

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

S. Kitsiou‐Tzeli, M. Tzetis, H. Fryssira, 2015, Molecular Cytogenetics.

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

M. Tzetis, C. Kanaka-Gantenbein, H. Fryssira, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Cranioectodermal dysplasia: A probable ciliopathy

E. Patsouris, A. Konstantinidou, S. Sifakis, 2009, American journal of medical genetics. Part A.

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

S. Gallati, P. Itin, P. Lapunzina, 2016, Molecular genetics & genomic medicine.

A female with Coffin-Lowry syndrome and "cataplexy".

H. Fryssira, J. Delaunoy, L. Thomaidis, 2002, Genetic counseling.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

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

S. Kitsiou‐Tzeli, M. Tzetis, H. Fryssira, 2018, Neuropediatrics.

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol.

H. Fryssira, P. Manta, A. Mavrou, 2005, Molecular and cellular probes.

Medical genetics and genomic medicine in Greece: achievements and challenges

I. Manoli, H. Fryssira, 2015, Molecular genetics & genomic medicine.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

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

C. Boerkoel, K. Choi, T. Hunley, 2015, Clinical immunology.

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.

A. Bertoli-Avella, C. Beetz, P. Willems, 2022, European journal of medical genetics.