Investigation and characterization of genomic imbalances in individuals with developmental delay / intellectual disability and (or) congenital anomalies

Autor: Laiara Cristina de Souza

Publikováno v: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

Orientadores: Társis Antonio Paiva Vieira; Vera Lúcia Gil da Silva Lopes Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: Em 2010, The International Standards for Cytogenomic Array (ISCA) Consort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30792fcfbdf052080988e2a9cecb80e7

A rare 19p13.11-p13.12 deletion in a patient with microcephaly and developmental delay

Autor: Laiara Cristina de Souza, Vera Lúcia Gil da Silva Lopes, Ilária Cristina Sgardioli, Társis Paiva Vieira

Publikováno v: Semina: Ciências Biológicas e da Saúde. 38:63

Submicroscopic deletions in chromosome 19 have been rarely reported. The aim of this study was to describe the genotype-phenotype correlation of a 19p13.11-p13.12 deletion . A male patient was referred for genetic evaluation by presenting neurodevelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38ff3f66867f16a85a817bd080279946
https://doi.org/10.5433/1679-0367.2017v38n1suplp63

A recognizable phenotype related to 19p13.12 microdeletion.

Autor: de Souza, Laiara Cristina, Sgardioli, Ilária Cristina, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Társis Paiva

Publikováno v: American Journal of Medical Genetics. Part A; Aug2018, Vol. 176 Issue 8, p1753-1759, 7p