Results 11 to 20 of about 7,265 (207)
Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene. [PDF]
Pediatr DermatolABSTRACT We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.
Sánchez-Espino LF +5 more
europepmc +2 more sources
Klotho and vitamin D in multiple sclerosis: an Italian study [PDF]
, 2020 Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental ...
Bruna Lo Sasso +10 more
core +1 more source
Diversity Analysis and Genetic Relationships among Local Brazilian Goat Breeds Using SSR Markers
Animals, 2020 The genetic diversity of six Brazilian native goats was reported using molecular markers. Hair samples of 332 animals were collected from different goat breeds (Moxotó, Canindé, Serrana Azul, Marota, Repartida, and Graúna) from five states of Northeast ...
Marcos Paulo Carrera Menezes +7 more
doaj +1 more source
Genetic signature detected in T cell receptors from patients with severe COVID-19
iScience, 2023 Summary: Characterization of host genetic factors contributing to COVID-19 severity promises advances on drug discovery to fight the disease. Most genetic analyses to date have identified genome-wide significant associations involving loss-of-function ...
Manuel Corpas +12 more
doaj +1 more source
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]
, 2018 : Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni +9 more
core +1 more source
Revista Brasileira de Zootecnia, 2011 Este trabalho foi realizado com o objetivo de avaliar alternativas para modelagem de efeitos genéticos e ambientais que influenciam o peso à desmama de bezerros mestiços Charolês-Zebu.
Fábio Luiz Buranelo Toral +3 more
doaj +1 more source
Ribogospodarsʹka Nauka Ukraïni, 2016 Purpose. Study of the peculiarities of the genetic structure based on genetic-biochemical markers in age-1+ and 2+ rainbow trout of the fish farm “Sloboda Banilov”, Chernivtsi region Methodology.
Р. Mendrishora +2 more
doaj +1 more source
Fatal familial insomnia with a Lewy‐like presentation [PDF]
Alzheimers DementAbstract Background Fatal Familial Insomnia (FFI) is a rare autosomal dominant prion disease. Herein, we present a case of a patient who was diagnosed with FFI, with symptoms initially resembling dementia with Lewy bodies (DLB). Method A 48‐year‐old Brazilian male with a six‐year history of insomnia presented with rapidly progressive dementia with ...
Teixeira M +6 more
europepmc +2 more sources
Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient [PDF]
Brazilian Journal of Medical and Biological Research, 2003 We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the aaaanti-3.7 allele was the probable cause for the clinical occurrence of thalassemia intermedia.
E.M. Kimura +4 more
doaj +1 more source
Ciência Rural, 2008 Foram avaliados, durante a terminação, os efeitos da heterozigose e do grupo genético nas medidas corporais de novilhos puros (Charolês - C e Nelore - N) e mestiços da segunda (G2) (3/4C1/4N e 3/4N1/4C), da terceira (G3) (5/8C3/8N e 5/8N3/8C) e da quarta
Luís Fernando Glasenapp de Menezes +6 more
doaj +1 more source