Social injustice unveiled by genetic analysis: Argentina as a case study
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Human Biology"
DOI: 10.1002/ajhb.23820
Abstract: The population of the American countries is genetically heterogeneous, whose genesis result from of recent admixture events. In this process, the transoceanic European component displaced the original inhabitants of the continent. read more here.
Keywords: analysis argentina; social injustice; argentina case; genetic analysis ... See more keywords
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23647
Abstract: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be… read more here.
Keywords: diagnosis; albinism; oculocutaneous albinism; analysis prenatal ... See more keywords
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis‐associated genes in the Slovenian family with idiopathic erythrocytosis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23715
Abstract: Erythrocytosis is a condition with an excessive number of erythrocytes, accompanied by an elevated haemoglobin and/or haematocrit value. Congenital erythrocytosis has a diverse genetic background with several genes involved in erythropoiesis. In clinical practice, nine… read more here.
Keywords: erythrocytosis; family; erythrocytosis hereditary; analysis erythrocytosis ... See more keywords
Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23781
Abstract: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe… read more here.
Keywords: clinical molecular; hereditary elliptocytosis; elliptocytosis; molecular genetic ... See more keywords
Genetic analysis combined with 3D‐printing assistant surgery in diagnosis and treatment for an X‐linked hypophosphatemia patient
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24243
Abstract: Hypophosphatemia is mainly characterized by hypophosphatemia and a low level of 1alpha,25‐Dihydroxyvitamin D2 (1,25‐(OH)2D2) and/or 1alpha,25‐Dihydroxyvitamin D3 (1,25‐(OH)2D3) in the blood. Previous studies have demonstrated that variants in PHEX and FGF23 are primarily responsible for… read more here.
Keywords: analysis; printing assistant; genetic analysis; combined printing ... See more keywords
Genetic analysis of neuraminidase gene of influenza A(H1N1)pdm09 virus circulating in Southwest India from 2009 to 2012
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Virology"
DOI: 10.1002/jmv.24625
Abstract: Genetic analysis of neuraminidase gene sequences in 23 archived isolates of influenza A(H1N1)pdm09 virus, isolated during the 2009–2012 influenza seasons, was carried out to determine the genetic variability. Amino acid substitutions were observed at the… read more here.
Keywords: neuraminidase gene; analysis neuraminidase; influenza h1n1; gene ... See more keywords
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1260
Abstract: Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading to delay in definitive diagnosis. Conversely, an early genetic diagnosis is very important in determining the disease course,… read more here.
Keywords: resolves differential; diagnosis; analysis resolves; syndromic dilated ... See more keywords
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1933
Abstract: Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high‐throughput sequencing approach. read more here.
Keywords: family; observation genetic; analysis syns1; clinical observation ... See more keywords
Genetic Analysis of Resistance to Wheat Rusts.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7249-4_12
Abstract: Leaf rust, stripe rust, and stem rust pose a significant threat to global wheat production. Growing rust resistant cultivars is the most efficient and environment friendly method to reduce yield losses. Genetic analysis is undertaken… read more here.
Keywords: wheat; analysis; analysis resistance; resistance ... See more keywords
Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Surgery International"
DOI: 10.1007/s00383-018-4280-y
Abstract: PurposeTesticular torsion (TT) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operative management. The etiology of TT is still controversial. Observed familiar recurrence suggests the presence of a genetic involvement.… read more here.
Keywords: testicular torsion; torsion; gene; pediatric patients ... See more keywords
Genetic analysis and forensic evaluation of 47 autosomal InDel markers in four different Chinese populations
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Legal Medicine"
DOI: 10.1007/s00414-019-02059-4
Abstract: This study aims to investigate the population-wide genetic data and forensic efficiency of 47 autosomal InDels in the four Chinese populations of Chinese Han, Tibetan, Uighur, and Chinese Hui. The allele frequencies and forensic parameters… read more here.
Keywords: analysis forensic; autosomal indel; evaluation autosomal; forensic evaluation ... See more keywords