Emotional and behavioural difficulties in children of parents with multiple sclerosis: a controlled study in Greece

…, DC Anagnostopoulos, C Voumvourakis… - European child & …, 2006 - Springer
Emotional and behavioural problems were investigated in children who have a parent with
multiple sclerosis (MS), in relation to factors such as family dysfunction, parental depression …

Is neurofibromatosis type 1–noonan syndrome a phenotypic result of combined genetic and epigenetic factors?

C Yapijakis, N Pachis, S Natsis, C Voumvourakis - in vivo, 2016 - iv.iiarjournals.org
Background/Aim: Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined
characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The …

Bilateral sphenopalatine ganglion block reduces blood pressure in never treated patients with essential hypertension. A randomized controlled single-blinded study

…, I Ikonomidis, C Batistaki, C Voumvourakis… - International Journal of …, 2018 - Elsevier
Background Sympathetic fibers connect sphenopalatine ganglion (SPG) with the central
nervous system. We aimed to study the effect of SPG block in blood pressure (BP) in never …

Neurofibromatosis-Noonan syndrome: a possible paradigm of the combination of genetic and epigenetic factors

C Yapijakis, N Pachis, C Voumvourakis - GeNeDis 2016: Genetics and …, 2017 - Springer
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of
autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). …

Potential prevention of thromboembolism by genetic counseling and testing for two common thrombophilia mutations

C Yapijakis, T Antoniadi, K Salavoura, C Voumvourakis… - in vivo, 2012 - iv.iiarjournals.org
Background/Aim: Thrombophilia is a multifactorial predisposition for thromboembolism affecting
about a tenth of any population. We investigated whether genetic counseling combined …

Mutation screening of her-2, n-ras and nf1 genes in brain tumor biopsies

…, K Tasiouka, C Voumvourakis… - Anticancer …, 2016 - ar.iiarjournals.org
Background/Aim: A deeper understanding of the complex molecular pathology of brain
malignancies is needed in order to develop more effective and targeted therapies of these highly …

Craniofacial and neurological phenotype in a patient with de novo 18q microdeletion and 18p microduplication

…, E Manolakos, C Voumvourakis - GeNeDis 2018: Genetics …, 2020 - Springer
Introduction: Chromosome 18q deletion syndrome (18q-) is a rare chromosomal disorder
with phenotypic variability, including mental deficiency, short stature, hypotonia, cleft palate, …

Preimplantation genetic testing for spastic paraplegia type 3

C Yapijakis, I Gintoni, C Voumvourakis… - GeNeDis 2020: Genetics …, 2021 - Springer
Introduction: Spastic paraplegia type 3 (SPG3) is a common autosomal dominant neurogenetic
disease, presenting during childhood with symptoms of mildly progressive spasticity and …

Genetic counseling for adult-onset spinal and bulbar muscular atrophy (Kennedy syndrome): multiple cases of prenatal testing in a family

…, A Angelopoulou, C Voumvourakis - GeNeDis 2018: Genetics …, 2020 - Springer
X-linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy syndrome, is
an adult-onset neurodegenerative disorder characterized by slowly progressive muscle …

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1

…, GP Chrousos, C Voumvourakis - GeNeDis 2020: Genetics …, 2021 - Springer
Introduction: Frontometaphyseal dysplasia 1 (FMD1) is a rare X-linked craniofacial syndrome
belonging in the otopalatodigital spectrum of disorders. Here we present a case with …