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Research Square|January 3, 2024
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generationsSilvia Souza Costa, Veniamin Fishman, Mara Pinheiro, et al.
Cancer Genetics and Cytogenetics|August 25, 2004
Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the larynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8Károly Szuhai, Jeroen Knijnenburg, Marije Ijszenga, et al.
Cancer Research|March 3, 2006
Chromosomal instability in MYH- and APC-mutant adenomatous polypsJoana Cardoso, Lia Molenaar, Renee X de Menezes, et al.
Cancer Genetics and Cytogenetics|December 19, 2006
Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcomaKároly Szuhai, Marije IJszenga, Hans J Tanke, et al.
European Journal of Medical Genetics|December 20, 2011
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiencyLeonardo P Capelli, Ana C V Krepischi, Juliana Gurgel-Giannetti, et al.
Medical Oncology (Northwood, London, England)|October 3, 2013
Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMMLAmanda Gonçalves Silva, Mariana Maschietto, Daniel Onofre Vidal, et al.
Meta Gene|September 13, 2016
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterizationNatália D Linhares, Eugênia R Valadares, Silvia S da Costa, et al.
European Journal of Medical Genetics|February 12, 2013
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palateGiselle Izzo, Érika L Freitas, Ana Cristina V Krepischi, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|March 20, 2024
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generationsSilvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, et al.
American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.
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