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Case Reports in Genetics|December 24, 2025
A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon SyndromeDébora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 7, 2005
Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphomaRemco Dijkman, Cornelis P Tensen, Ekaterina S Jordanova, et al.
European Journal of Human Genetics : EJHG|March 8, 2007
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletionJeroen Knijnenburg, Arie van Haeringen, Kerstin B M Hansson, et al.
European Journal of Endocrinology|June 1, 2014
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathwaysAna P M Canton, Sílvia S Costa, Tatiane C Rodrigues, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|March 30, 2026
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?Henrique Regonaschi Serigatto, Siulan Vendramini-Pittoli, Priscila Padilha Moura, et al.
American Journal of Medical Genetics. Part A|September 20, 2012
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridiaMilena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, et al.
The Application of Clinical Genetics|September 4, 2018
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative casesThaise Nr Carneiro, Ana Cv Krepischi, Silvia S Costa, et al.
Future Oncology (London, England)|August 23, 2014
Large germline copy number variations as predisposing factor in childhood neoplasmsAna Cristina Victorino Krepischi, Leonardo Pires Capelli, Amanda Gonçalves Silva, et al.
Future Oncology (London, England)|March 30, 2016
Role of rare germline copy number variation in melanoma-prone patientsFelipe Fidalgo, Tatiane Cristina Rodrigues, Amanda Gonçalves Silva, et al.
Cancer|June 17, 2006
Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrationsLeida B Rozeman, Karoly Szuhai, Yvonne M Schrage, et al.
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