Results 21 to 30 of about 305,564 (250)

Genotype–phenotype correlation in long QT syndrome families

Indian Pacing and Electrophysiology Journal, 2015
Heterogeneity in clinical manifestations is a well-known feature in Long QT Syndrome (LQTS). The extent of this phenomenon became evident in families wherein both symptomatic and asymptomatic family members are reported.
Sameera Fatima Qureshi, Altaf Ali, Ananthapur Venkateshwari, Hygriv Rao, M.P. Jayakrishnan, Calambur Narasimhan, Jayaprakash Shenthar, Kumarasamy Thangaraj, Pratibha Nallari   +8 more
doaj   +1 more source

Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
core   +2 more sources

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Epilepsia Open, 2023
Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation.
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp   +19 more
doaj   +1 more source

Whole Genome Sequencing and Morphological Trait-Based Evaluation of UPOV Option 2 for DUS Testing in Rice

Frontiers in Genetics, 2022
To evaluate the application potential of high-density SNPs in rice distinctness, uniformity, and stability (DUS) testing, we screened 37,929 SNP loci distributed on 12 rice chromosomes based on whole-genome resequencing of 122 rice accessions.
Hong Liu, Hong Liu, Dehua Rao, Tao Guo, Sunil S. Gangurde, Sunil S. Gangurde, Sunil S. Gangurde, Yanbin Hong, Mengqiang Chen, Zhanquan Huang, Yuan Jiang, Zhenjiang Xu, Zhiqiang Chen   +12 more
doaj   +1 more source

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

BMC Medical Genetics, 2019
Background MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2 ...
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang   +7 more
doaj   +1 more source

Genotype-phenotype correlation of HbH disease in northern Iraq

BMC Medical Genetics, 2020
Background HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations.
Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus, Mohamad D. Ali   +3 more
doaj   +1 more source

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy

Frontiers in Neurology, 2022
IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated.
Xingzhi Chang, Risheng Wei, Cuijie Wei, Jieyu Liu, Lun Qin, Hui Yan, Yinan Ma, Zhaoxia Wang, Hui Xiong   +8 more
doaj   +1 more source

Crop Yield Prediction Using Deep Neural Networks [PDF]

, 2019
Crop yield is a highly complex trait determined by multiple factors such as genotype, environment, and their interactions. Accurate yield prediction requires fundamental understanding of the functional relationship between yield and these interactive ...
Khaki, Saeed, Wang, Lizhi, Wang, Lizhi
core   +4 more sources

High Heritability Is Compatible with the Broad Distribution of Set Point Viral Load in HIV Carriers. [PDF]

, 2015
Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors ...
Bonhoeffer, S, Fraser, C, Leventhal, GE
core   +3 more sources

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +1 more source