Hannes Syryn
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View article: A laser capture microdissection-based method for high-sensitivity transcriptomics from archived FFPE tissue slides with single-cell resolution using LCM-FFPEseq
A laser capture microdissection-based method for high-sensitivity transcriptomics from archived FFPE tissue slides with single-cell resolution using LCM-FFPEseq Open
Understanding gene expression within its spatial context is essential for unravelling biological processes. Laser Capture Microdissection (LCM) has emerged as a transformative technology, enabling targeted isolation of individual cells or …
View article: P-594 Genetic screening in patients with oocyte/zygote/embryo maturation arrest and failed fertilization
P-594 Genetic screening in patients with oocyte/zygote/embryo maturation arrest and failed fertilization Open
Study question Can variant screening identify the genetic causes of female-related oocyte/zygote/embryo maturation arrest (OZEMA) and male-related failed fertilization (FF)? Summary answer Genetic analysis revealed CHEK1/WEE2/TUBB8 mutatio…
View article: <i>HRAS</i> ‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects
<i>HRAS</i> ‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects Open
Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were prev…
View article: Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series
Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series Open
STUDY QUESTION What is the long-term outcome of individuals born with bilateral testicular regression (BTR) in relation to its underlying etiology? SUMMARY ANSWER Statural growth and pubertal development are adequate with incremental doses…
View article: Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies Open
Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomat…
View article: Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management
Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management Open
Background: Ovotesticular disorder/difference of sex development (DSD) refers to the co-presence of testicular and ovarian tissue in one individual. Childhood management is challenging as there are many uncertainties regarding etiology, go…