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Identification of complex and cryptic chromosomal rearrangements by optical genome map**
BackgroundOptical genome map** (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex...
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Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
BackgroundA rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an...
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
BackgroundHaploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and...
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One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report
BackgroundCryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can...
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FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions
BackgroundChronic myeloid leukaemia (CML) is one of the most well characterised human malignancies. Most patients have a cytogenetically visible...
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Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological...
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Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation
BackgroundUnbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and...
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De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation
IntroductionDe novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced...
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Genetic dissection of TLR9 reveals complex regulatory and cryptic proinflammatory roles in mouse lupus
In lupus, Toll-like receptor 7 (TLR7) and TLR9 mediate loss of tolerance to RNA and DNA, respectively. Yet, TLR7 promotes disease, while TLR9...
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FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR
AbstractDetection of translocations in subtelomeric regions of chromosomes is a serious diagnostic problem, because they are difficult to determine...
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Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome map**
The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely unknown. Pathogenic variants in WNT4 and HNF1B have been...
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Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
Intronic deletions that critically shorten donor-to-branchpoint (D-BP) distance of a precursor mRNA impose biophysical space constraint on assembly...
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FISH-Banding for Characterization of Simple and Complex Chromosomal Rearrangements in Cancer
While interphase and metaphase-directed molecular cytogenetics is a standard technique in routine tumor (cyto)genetics, fluorescence in situ...
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The Role of Cytogenetic Rearrangements in the Formation of Resistance in Relapse of Acute Lymphoblastic Leukemia
AbstractCytogenetic rearrangements were studied in bone marrow cells of 24 patients with relapse of acute lymphoblastic leukemia (ALL). The authors...
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Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis
BackgroundT-cell acute lymphoblastic leukemia (T-ALL) represents a rare and clinically and genetically heterogeneous disease that constitutes 10–15%...
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Long-term climatic stability drives accumulation and maintenance of divergent freshwater fish lineages in a temperate biodiversity hotspot
Anthropogenic climate change is forecast to drive regional climate disruption and instability across the globe. These impacts are likely to be...
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Identification of a familial complex chromosomal rearrangement by optical genome map**
BackgroundComplex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as...
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Microorganisms in the Pathogenesis and Management of Anti-phospholipid Syndrome (Hughes Syndrome)
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by thrombosis and pregnancy complications in subjects with persistently...
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Emerging Therapies and Novel Targets for TDP-43 Proteinopathy in ALS/FTD
Nuclear clearance and cytoplasmic mislocalization of the essential RNA binding protein, TDP-43, is a pathologic hallmark of amyotrophic lateral...
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Autoimmunity and Microbiome
The interaction since the birth of the microbiome with the immune system influences the development of autoimmune disorders. The cross-talk between...