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Ali Abbasi

information to fill the evidence gap due to unmeasured confounding or reverse causality (4, 5, 6, 7) . It has been successfully shown that a complementary analysis of genetic data, termed ‘Mendelian randomization,’ has additive value to infer a causal

Open access

K G Samsom, L M van Veenendaal, G D Valk, M R Vriens, M E T Tesselaar and J G van den Berg

genomic landscape of SI-NETs remains poorly elucidated and biomarkers have not yet been identified. Moreover, the genetic constitution of SI-NETs has been shown to differ compared to pancreatic NETs ( 11 ). With this review we aim to provide the clinician

Open access

Anastasia K Armeni, Konstantinos Assimakopoulos, Dimitra Marioli, Vassiliki Koika, Euthychia Michaelidou, Niki Mourtzi, Gregoris Iconomou and Neoklis A Georgopoulos

. Failure to replicate genotype studies is common in candidate gene association studies ( 61 ). In fact, no genetic study on female sexuality has been successfully replicated ( 9 ). Further research and replication of the results are needed to clarify such

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Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

(NGS) approach, we screened 23 PDTC for variants in 48 cancer-relevant genes. The main goal addressed in this exploratory study was to characterise novel genetic changes as potential targets for further research as well as establishing the NGS technique

Open access

M I Stamou, P Varnavas, L Plummer, V Koika and N A Georgopoulos

genetically enriched disease with ~37 genes being implicated in its pathophysiology ( 2 , 3 ). The genetic basis of disorders of sex development has been previously studied with a prevalence of genetic changes ~45% ( 4 , 5 ), whereas in the genetically

Open access

Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang and Xian-Liang Zhou

. Bioinformatics 2009 25 1754 – 1760 . ( https://doi.org/10.1093/bioinformatics/btp324 ) 9 Wang K Li M Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data . Nucleic Acids Research 2010 38 e164

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

Muresan M Schaffler A Reisch N . Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients . Clinical Cancer Research 2009 15 6378 – 6385 . ( doi:10.1158/1078-0432.CCR-09-1237 ). 13 Karasek D Frysak Z

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

). However, as their utility was mostly proven in research genetic centers, there are still missing data regarding its application in a clinical setting, where reporting the genetic result to the patient and their family might be complicated by low

Open access

Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell and Helen L Storr

Research Authority, East of England – Cambridge East Research Ethics Committee (REC reference: 17/EE/0178). Informed written consent for genetic research, skin biopsy and publication of clinical details was obtained from parents/carers and the patients

Open access

Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

) and/or severe complex craniofacial malformations, such as septo-optic dysplasia (SOD). The genetic defects leading to CH were classified in: defects in GH secretion ( GH1 , GHRHR ); defects in pituitary cell differentiation ( PROP1 , POU1F1 ) and