List of works - Uira Melo

A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts

article

A novel complex neurological phenotype due to a homozygous mutation in FDX2

scientific article published on 01 August 2018

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

scientific article published on 10 September 2018

Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast?

scientific article published in April 2013

Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration

scientific article published on 13 April 2020

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

scientific article published on 2 February 2018

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

scientific article published on 21 May 2020

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

scientific article published on 19 December 2014

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

scientific article published in Scientific Reports

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

scientific article published on 18 September 2015

Position effects at the FGF8 locus are associated with femoral hypoplasia

scientific article published on 24 August 2021

Progressive Loss of Function in a Limb Enhancer during Snake Evolution

scientific article published on October 2016

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

scientific article published on 13 March 2018

Strategies for genetic study of hearing loss in the Brazilian northeastern region

scientific article published on 17 February 2014

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

scientific article published on 05 October 2020

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome

scientific article published on 01 April 2018

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

scientific article

mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

scientific article published on 16 January 2019

List of works by Uira Melo