R. S. Guilherme

Publications29
h-index11
Citations389
Highly Influential Citations26
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Mechanisms of ring chromosome formation, ring instability and clinical consequences
BackgroundThe breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients.MethodsSeveral techniques were performed such as genome-wide array, MLPA (Multiplex… Expand
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Ring chromosome instability evaluation in six patients with autosomal rings.
Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated… Expand
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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than… Expand
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Duplication 9p and their implication to phenotype
BackgroundTrisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements… Expand
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X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations
Detailed molecular characterization of chromosomal rearrangements involving X‐chromosome has been a key strategy in identifying X‐linked intellectual disability‐causing genes. We fine‐mapped the… Expand
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Complex small supernumerary marker chromosomes – an update
BackgroundComplex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one… Expand
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How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set
Here a new fluorescence in situ hybridization (FISH-) based probe set is presented and its possible applications are highlighted in 34 exemplary clinical cases. The so-called pericentric-ladder-FISH… Expand
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Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype
The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS… Expand
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Ring chromosome 10: report on two patients and review of the literature
Ring chromosome 10—r(10)—is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients… Expand
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Clinical, Cytogenetic and Molecular Study in a Case of r(3) with 3p Deletion and Review of the Literature
Ring chromosome 3 is a rare abnormality with only 10 patients described in the literature. We report a patient with r(3) and ∼6-Mb distal 3p deletion. Single nucleotide polymorphism array, multiplex… Expand
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