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Sylvia Satomi Takeno

Federal University of São Paulo

22

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324

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Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome

2018 Journal of Intellectual Disability Research
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19q13.33→qter trisomy in a girl with intellectual impairment and seizures

2014 Meta Gene
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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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Citations (4)
Clinical Phenotypes and ABCC6 Gene Mutations in Brazilian Families with Pseudoxanthoma Elasticum

2013 Acta Dermato-venereologica
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Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.

2012 Journal of Medical Case Reports
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Citations (8)
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

2012 Molecular Cytogenetics
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Citations (13)
Clinical, Cytogenetic and Molecular Study in a Case of r(3) with 3p Deletion and Review of the Literature

2011 Cytogenetic and Genome Research
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Mechanisms of ring chromosome formation, ring instability and clinical consequences.

2011 BMC Medical Genetics
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Genomic alterations in diffuse-type gastric cancer as shown by high-resolution comparative genomic hybridization

2009 Cancer Genetics and Cytogenetics
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Citations (16)