User profiles for E. G. Serra
Eduardo Gonçalves SerraUniversidade Federal do Rio de Janeiro Verified email at poli.ufrj.br Cited by 117 |
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
…, S McCarthy, T Ahmad, C Edwards, EG Serra… - Nature …, 2017 - nature.com
To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative
colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low …
colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low …
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
AK Nicholas, EG Serra, H Cangul… - The Journal of …, 2016 - academic.oup.com
… Detailed investigation of the contribution of oligogenicity to genotype-phenotype variability
mandates the study of large kindreds with a spectrum of genotypes, eg, F10 (Figure 5). In this …
mandates the study of large kindreds with a spectrum of genotypes, eg, F10 (Figure 5). In this …
[HTML][HTML] NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset
inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel …
inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel …
[HTML][HTML] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
…, S Barone, P Srichomkwun, H Iwayama, EG Serra… - JCI insight, 2018 - ncbi.nlm.nih.gov
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital
hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in …
hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in …
[HTML][HTML] Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
EG Serra, T Schwerd, L Moutsianas… - Nature …, 2020 - nature.com
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype
associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-…
associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-…
DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom
…, E Schoenmakers, G Lyons, S Langham, EG Serra… - Thyroid, 2019 - liebertpub.com
… This may reflect variable compensation by other thyroidal H 2 O 2 -producing enzymes (eg,
DUOX1), influence of other genetic variants affecting thyroid hormone biosynthesis, or …
DUOX1), influence of other genetic variants affecting thyroid hormone biosynthesis, or …
[HTML][HTML] Construction of biodigesters to optimize the production of biogas from anaerobic co-digestion of food waste and sewage
CS Guimaraes, DRS Maia, EG Serra - Energies, 2018 - mdpi.com
The objective of this study was to build and develop anaerobic biodigesters for optimization
of biogas production using food waste (FW) and sewage (S) co-digestion from a wastewater …
of biogas production using food waste (FW) and sewage (S) co-digestion from a wastewater …
Consequences of identifying XIAP deficiency in an adult patient with inflammatory bowel disease
M Quaranta, R Wilson, EG Serra, S Pandey… - …, 2018 - gastrojournal.org
Dear Editors: In some patients with extreme phenotypes of inflammatory bowel disease (IBD;
in particular in those with infantile or very early onset IBD with< 6 years of onset, …
in particular in those with infantile or very early onset IBD with< 6 years of onset, …
Methods for assessing energy efficiency of buildings
EG Serra - Journal of Sustainable Development of Energy, Water …, 2019 - hrcak.srce.hr
This article analyzes the case of a Brazilian Institute of Higher Education, in relation to
compliance with a normative instruction, according to which all federal public buildings must …
compliance with a normative instruction, according to which all federal public buildings must …
The use of animal manure in the organic cultivation of Passiflora incarnata L. increases the content of phenolic compounds in the leaf and the antioxidant activity of …
AC Pacheco, LGT Feba, EG Serra, WHS Takata… - Organic Agriculture, 2021 - Springer
Organic cultivation of the medicinal species Passiflora incarnata L. is generally a
requirement of the herbal industries. However, there is little information about the nutritional …
requirement of the herbal industries. However, there is little information about the nutritional …