Search Results - "Bonaldi, Adriano"

Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.

Authors: Mazzonetto, Patricia C. Villela, Darine Krepischi, Ana C. V. et al.

Source: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-9, 9p

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Authors: Fonseca, Ana Carolina S. Bonaldi, Adriano Fonseca, Simone A. S. et al.

Source: Molecular Cytogenetics (17558166). 12/30/2015, Vol. 8, p106-115. 10p.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Authors: Fonseca, Ana Carolina S. Bonaldi, Adriano Bertola, Débora R. et al.

Source: BMC Medical Genetics. 2013, Vol. 14 Issue 1, p1-10. 10p. 1 Chart, 3 Graphs.

A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.

Authors: Guarischi-Sousa, Rodrigo Kroll, José Eduardo Bonaldi, Adriano et al.

Source: Diagnostics (2075-4418). Nov2023, Vol. 13 Issue 21, p3293. 13p.

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Authors: Bonaldi, Adriano Mazzeu, Juliana F. Costa, Silvia S. et al.

Source: American Journal of Medical Genetics. Part A; Oct2011, Vol. 155A Issue 10, p2479-2483, 5p

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting.

Authors: Mazzonetto, Patricia C. Villela, Darine da Costa, Silvia Souza et al.

Source: Annals of Human Genetics. Mar2024, Vol. 88 Issue 2, p113-125. 13p.

COMPARATIVE ASSESSMENT OF CYTOGENETIC AND MOLECULAR APPROACHES FOR PRODUCT OF CONCEPTION: A RETROSPECTIVE STUDY OF 726 CASES.

Authors: Nardelli Gonçalves, Natalia Juliana Madaschi, Camila Paternostro, Priscila et al.

Source: Fertility & Sterility. 2022 Supplement, Vol. 118 Issue 4, pe179-e179. 1p.