12 Result(s)
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Periklis Makrythanasis
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Article
Open AccessFOXI3 pathogenic variants cause one form of craniofacial microsomia
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...
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Open AccessInternational registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts
Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable ...
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Open AccessSingle cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene expression. We study gene and allele-specific expressi...
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Open AccessExome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.
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Open AccessCATCHing putative causative variants in consanguineous families
Consanguinity is an important risk factor for autosomal recessive (AR) disorders. Extended genomic regions identical by descent (IBD) in the offspring of consanguineous parents give rise to recessive disorders wi...
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Open AccessRecessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report
Inherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulti...
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Alteration of the number of copies of double minutes (DMs) with oncogenic EGFR mutations in response to tyrosine kinase inhibitors is a novel adaptive mechanism of glioblastoma. Here we provide evidence that such...
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Open AccessEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common chara...
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Open AccessNext generation diagnostics on cardiomyopathy
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Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
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 convention...
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From sequence to functional understanding: the difficult road ahead
DNA sequencing has become cheap, rapid and accurate, allowing us to access thousands of genomes and reveal the extensive variation among individuals. The major problem that arises from this is distinguishing b...
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Efficient targeted transcript discovery via array-based normalization of RACE libraries
Rapid amplification of cDNA ends (RACE) is a widely used approach for transcript identification. Random clone selection from the RACE mixture, however, is an ineffective sampling strategy if the dynamic range ...
