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Article
Fokale dermale Hypoplasie durch pathogene Variante im PORCN-Gen in postzygotischer, unilateraler Mosaik-Konstellation
Wir berichten über eine 29-jährige Patientin mit ab dem Grundschulalter bemerkbaren diskreten zum Teil erythematösen, zum Teil hyperpigmentierten Streifen entlang der Blaschko-Linien an der rechten Körperhälft...
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Article
Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations
Age-related hearing impairment (ARHI) is the most frequent sensory disease in the elderly, which is caused by an interaction between genetic and environmental factors. Here we examined the ethnic differences, ...
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Article
Open AccessTargeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counse...
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Article
Open AccessCorrection to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
Following publication of the original article [1], the authors requested a correction to the details of one of the co-authors.
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Article
Open AccessNovel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapulop...
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Article
Open AccessKleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyeb...
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Article
Open AccessPartial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype
Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications...
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Article
Open AccessPhenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
Interstitial deletions of 4q21 (MIM 613509) have already been reported in more than a dozen patients with deletions ranging from 2 to 15.1 Mb delineating a common phenotype including marked growth restriction,...
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Article
Open AccessDeletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension
The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac an...
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Article
Infantile hemangiomas and retinopathy of prematurity: clues to the regulation of vasculogenesis
Retinopathy of prematurity (ROP) and infantile hemangiomas are vascular disorders that may share common mechanisms. This study examined a potential clinical association between these disorders in populations o...
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Chapter
Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
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Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNASer(UCN) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, w...
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Article
Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees
Here, we present a male infant with clinical signs of typical Leigh syndrome. The first symptom, myoclonus was presented already on the 5th day of life; at 7 months of age limb convulsions and cerebral paresis...
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Article
Analysis of mtDNA A3243G mutation frequency in Hungary
The A3243G mutation in the mitochondrial tRNALeu (UUR) gene is one of the most common causes of mitochondrial DNA related disorders. Originally it was described in MELAS syndrome (Mitochondrial Encephalomyopathy,...
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Article
Protein tyrosine phosphatase gene C1858T allele confers risk for rheumatoid arthritis in Hungarian subjects
The C1858T allele of the PTPN22 gene has been reported to confer risk for RA; but in some reports, the effect was restricted to RF- and/or anti-CCP-seropositive patients. Hungarian RA patients and matched cont...
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Article
Determination of Carnitine Ester Patterns During the Second Half of Pregnancy, at Delivery, and in Neonatal Cord Blood by Tandem Mass Spectrometry: Complex and Dynamic Involvement of Carnitine in the Intermediary Metabolism
We studied plasma concentrations of free carnitine and 30 carnitine esters by electron spray ionization (ESI) tandem mass spectrometry in 37 pregnant women at the 20th and 30th weeks of gestation and at delive...
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Article
Does Glycoprotein IIIa Gene(PlA) Polymorphism Influence Clopidogrel Resistance?
Clopidogrel is a potent antiplatelet drug used for secondary prevention after ischaemic cardiovascular or cerebrovascular events. In patients with aspirin (acetylsalicylic acid) intolerance or resistance, it i...
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Article
Prevalence of SLC22A4 1672T and SLC22A5 −207C combination defined TC haplotype in Hungarian ulcerative colitis patients
Ulcerative colitis (UC) is a chronic inflammatory disease of the gastrointestinal tract. The aim of this study was to verify the prevalence rate of the haplotype called TC, determined by combination of two fun...
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Article
Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke
The possible pathogenic role of triglycerides (TG) in the development of ischemic stroke is still under extensive investigation. Recently, apolipoprotein (apo)A5 gene promoter region T-1131C polymorphism has b...
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Article
Angiotensin II type-1 receptor A1166C polymorphism is associated with increased risk of ischemic stroke in hypertensive smokers
Recent observations revealed a novel role of angiotensin-converting enzyme 2 and the angiotensin II type-1 receptor (AT1R) in lung injury, thereby extending knowledge about the functions of the angiotensin sys...
