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European Journal of Medical Genetics|July 24, 2012
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic stateÉrika L Freitas, Susan M Gribble, Milena Simioni, et al.
Genes|January 8, 2025
Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling ImplicationsDaniela Koeller R Vieira, Ingrid Bendas Feres Lima, Carla Rosenberg, et al.
Human Genetics|May 19, 2006
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek, Karoly Szuhai, Sarina G Kant, et al.
International Journal of Molecular and Cellular Medicine|March 10, 2021
Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 MicroduplicationGiovanna Cantini Tolezano, Silvia Souza da Costa, Marília de Oliveira Scliar, et al.
International Journal of Legal Medicine|February 28, 2025
Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literatureCintia Fridman, João Paulo Gervasio Batista, Pamela Viana Bianchini, et al.
Melanoma Research|February 4, 2015
LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasisÉrica S S De Araújo, André Y Kashiwabara, Maria I W Achatz, et al.
Clinics and Research in Hepatology and Gastroenterology|April 14, 2021
DNA methylation as a key epigenetic player for hepatoblastoma characterizationMaria Rivas, Talita Aguiar, Gustavo Fernandes, et al.
BMC Cancer|June 14, 2012
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletionAmanda Gonçalves Silva, Ingrid Petroni Ewald, Marina Sapienza, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|May 13, 2018
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletionAlexsandro Dos Santos, Francine Campagnari, Ana Cristina Victorino Krepischi, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotypeTobias Laurell, Johanna Lundin, Britt-Marie Anderlid, et al.
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