about
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaRecessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.CATCHing putative causative variants in consanguineous familiesLoss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patientsFrom sequence to functional understanding: the difficult road aheadTissue-specific effects of genetic and epigenetic variation on gene regulation and splicingDNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsExome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.High-throughput sequencing and rare genetic diseases.Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeSimultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsLong term follow up of a woman with classic form of Ehlers-Danlos syndrome associated with rare manifestations and review of the literature.Pathogenic variants in non-protein-coding sequences.Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyExtrachromosomal driver mutations in glioblastoma and low-grade glioma.Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population.Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation.Defining categories of actionability for secondary findings in next-generation sequencing.Choking Fits During Sleep Related to Epilepsy.MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.Awareness of prenatal screening for fetal aneuploidy among pregnant women in Greece.A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitisDiagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
P50
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P50
description
investigador
@es
researcher
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wetenschapper
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name
Periklis Makrythanasis
@en
Periklis Makrythanasis
@nl
type
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Periklis Makrythanasis
@en
Periklis Makrythanasis
@nl
altLabel
Makrythanasis P
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prefLabel
Periklis Makrythanasis
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Periklis Makrythanasis
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P31
P496
0000-0002-3725-0113