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Roberta Santos Guilherme

Federal University of São Paulo

28

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403

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Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

2019 Molecular Syndromology
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Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

2016 Cytogenetic and Genome Research
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Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

2016 Cytogenetic and Genome Research
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X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

2015 American Journal of Medical Genetics
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Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

2015 Fertility and Sterility
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Duplication 9p and their implication to phenotype

2014 BMC Medical Genetics
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Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24.2‐q25.2 deletion inherited from a paternal insertion

2014 American Journal of Medical Genetics Part A
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Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

2013 The Journal of Pediatrics
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Clinical, cytogenetic and molecular characterization of three patients with r(22), including one with 22q11.2 deletion

2013 Chromosome Research
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Human Ring Chromosomes – New Insights for their Clinical Significance

2013 Balkan Journal of Medical Genetics
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Citations (13)