Results 91 to 100 of about 10,451,845 (193)

A lack of association between genetic polymorphisms in beta-defensins and susceptibility of psoriasis in Taiwanese: A case–control study

Dermatologica Sinica, 2016
Background: Genetic predisposition of the inflammatory-host response may affect the development of psoriasis. Previous studies have shown that copy number variations (CNVs) of β-defensin genes (DEFB) are associated with the susceptibility of psoriasis in
Yu-Jui Hsieh, Ya-Ching Chang, Yu-Huei Huang, Wen-Hung Chung, Hsin-Yi Tsai, Lung-An Hsu   +5 more
doaj   +1 more source

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies [PDF]

, 2008
Background: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing.
McCauley, J, A. Ferlini, Martoni Elena, Cecilia Trabanelli, Ashton Emma, Ciccone, R, S. Abbs, Elena Bassi, Venturoli A, F. Muntoni, Emma Ashton, Rimessi P, Brioschi S, Neri M, Venturoli, A, Elena Martoni, Bovolenta, M, McCauley J, M. Neri, Trabanelli Cecilia, Maria S Falzarano, McCauley Joanne, Ferlini Alessandra, Muntoni Francesco, J. McCauley, Fabris M, CICCONE, ROBERTO, Merlini Luciano, Gualandi, F, Shu Yau, Yau S, Martoni, E, Paola Rimessi, Yau Shu, M. S. Falzarano, E. Martoni, Venturoli Anna, Ferlini, A, Luciano Merlini, Merlini L, Brioschi Simona, Spitali, P, Falzarano Maria S, Ciccone Roberto, Martoni E, Anna Venturoli, Spitali P, Abbs S, Marina Fabris, Sergio Fini, Abbs, S, Bassi E, Ferlini A., Ashton E, E. Bassi, Merlini, L, C. Trabanelli, Fini Sergio, M. Bovolenta, Roberto Ciccone, Fini, S, Yau, S, M. Fabris, Ashton, E, Alessandra Ferlini, L. Merlini, S. Fini, E. Ashton, Muntoni, F, Rimessi, P, Simona Brioschi, P. Rimessi, F. Gualandi, Francesco Muntoni, Brioschi, S, Neri, M, Matteo Bovolenta, Marcella Neri, Gualandi F, Bassi, E, Falzarano MS, Pietro Spitali, P. Spitali, S. Yau, Fabris, M, Abbs Stephen, S. Brioschi, Trabanelli C, Falzarano, MS, Fabris Marina, A. Venturoli, Spitali Pietro, Stephen Abbs, Francesca Gualandi, Bassi Elena, Muntoni F, Trabanelli, C, Bovolenta Matteo, Bovolenta M, Gualandi Francesca, Joanne McCauley, Neri Marcella, Rimessi Paola, Fini S   +103 more
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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders [PDF]

, 2015
Background\ud Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with
Malini Sathanoori, Sally Kochmar, Jun Liao, Hu, J, Hu, Jie, Surti, Urvashi, Kochmar, Sally, Jessica Sebastian, Svetlana A. Yatsenko, Liao, Jun, Surti, U, Sebastian, Jessica, Yatsenko, SA, Kochmar, S, Urvashi Surti, Sathanoori, M, Yatsenko, Svetlana A., Liao, J, Jie Hu, Sebastian, J, Sathanoori, Malini   +20 more
core   +1 more source

Application of chromosomal microarray for evaluation of idiopathic short stature in Asian Indian children: A pilot study

Indian Journal of Endocrinology and Metabolism, 2018
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%–80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of ...
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur   +6 more
doaj   +1 more source

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in Sub-Saharan Africa [PDF]

, 2013
AIDS, caused by the retrovirus HIV, remains the largest cause of morbidity in sub-Saharan Africa yet almost all genetic studies have focused on cohorts from Western countries.
F. Mugusi (7640813), Makonnen, Eyasu, Bowdrey, Jennifer, Viskaduraki Maria, Lee R. Machado (7638830), Eleni Aklillu (316254), Eyasu Makonnen (157087), Mugusi Sabina, Omary Minzi, Mugusi Ferdinand, Getachew Aderaye, Hollox, Edward J, Mohammed Janabi, Yimer Getnet, Machado, Lee, J. Bowdrey (7640783), Eleni Aklillu, Maria Viskaduraki (481734), Bowdrey Jennifer, W. Amogne (7640801), Habtewold Abiy, Minzi Omary, Viskaduraki, Maria, A. Habtewold (7640789), M. Viskaduraki (7640816), Ngaimisi Eliford, Ferdinand Mugusi, Jennifer Bowdrey (481733), Mugusi, Ferdinand, Lee R Machado, Edward J. Hollox (7583051), Abiy Habtewold, Wondwossen Amogne (338194), Lee R. Machado, L. R. Machado (7640780), Sabina Mugusi (316245), O. Minzi (7640792), G. Aderaye (7640810), Aklillu Eleni, Wondwossen Amogne, S. Mugusi (7640804), Getnet Yimer (338188), Ngaimisi, Eliford, Amogne Wondwossen, G. Yimer (7640798), Machado Lee R., E. Aklillu (7640819), Aderaye, Getachew, Hollox Edward J., Minzi, Omary, Aderaye Getachew, Omary Minzi (316248), Makonnen Eyasu, Maria Viskaduraki, Abiy Habtewold (338191), Habtewold, Abiy, E. Ngaimisi (7640786), Jennifer Bowdrey, Eliford Ngaimisi (316246), Eliford Ngaimisi, Mugusi, Sabina, E. Makonnen (7640795), Yimer, Getnet, Amogne, Wondwossen, Mohammed Janabi (431118), Eyasu Makonnen, Edward J. Hollox, Janabi, Mohammed, Aklillu, Eleni, Machado, Lee; id_orcid, Janabi Mohammed, Edward J Hollox, M. Janabi (7640807), Ferdinand Mugusi (214835), Sabina Mugusi, Getnet Yimer, Getachew Aderaye (338201)   +76 more
core   +2 more sources

Structural variations in oil crops: Types, and roles on domestication and breeding

Oil Crop Science
Structural variations (SVs), a newly discovered genetic variation, have gained increasing recognition for their importance, yet much about them remains unknown.
Xiaobo Cui, Miao Yao, Meili Xie, Ming Hu, Shengyi Liu, Lijiang Liu, Chaobo Tong   +6 more
doaj   +1 more source

Variations of genes copy number in populations of Bluetongue-virus [PDF]

, 2018
Viruses have the largest diversity of genome architectures. Among them, segmented viruses possess a genome divided in several chromosomes or segments, encapsidated together.
Moreau, Yannis, Breard, Emmanuel, Loire, Etienne, Gutiérrez, Serafin, Gil, Patricia   +4 more
core  

A Potential Method to Help Predict Genetic Diseases and Arrange Healthcare: Copy Number Variation Analysis

Erciyes Medical Journal, 2019
Munis Dündar, Saide Betül Arslan
doaj   +1 more source

Copy number variations and rough colony morphology in bioethanol yeast

, 2021
This thesis work introduces the analysis of bioethanol yeast from two main prospective. Analyzing gene copy number variations for 4 different strains of bioethanol yeast. Also, while looking closely at the rough colony morphology and the genes related to
Elsayed, Moumen
core  

Estimating Shared Copy Number Aberrations for Array CGH Data: The Linear-Median Method

, 2010
Motivation: Existing methods for estimating copy number variations in array comparative genomic hybridization (aCGH) data are limited to estimations of the gain/loss of chromosome regions for single sample analysis.
V. Baladandayuthapani, Y.-X. Lin, V. Bonato, K.-A. Do   +3 more
core   +1 more source