Results 81 to 90 of about 86,674 (251)

Polygenic Risk Score Analysis of Alzheimer's Disease in Cases without APOE4 or APOE2 Alleles [PDF]

, 2019
Valentina Escott‐Price, A. Myers, MJ Huentelman, Maryam Shoai, John Hardy   +4 more
openalex   +1 more source

Haplotype Diversity at Sub1 Locus and Allelic Distribution Among Rice Varieties of Tide and Flood Prone Areas of South-East Asia

Rice Science, 2017
Single nucleotide polymorphisms and restriction digestion-based haplotype variations among 160 flood prone rice varieties were analyzed with enzymes Alu I and Cac8 I to generate polymorphisms at Sub1A and Sub1C loci (conferring submergence tolerance ...
A.S.M. Masuduzzaman, Md. Maksudul Haque, A.K.M. Shamsuddin, M.A. Salam, Md. Ansar Ali   +4 more
doaj   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy–Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial [PDF]

, 2019
Christina Ekenberg, Man‐Hung Eric Tang, Adrian G. Zucco, Daniel D. Murray, Cameron Ross MacPherson, Xiaojun Hu, Brad T. Sherman, Marcelo Losso, Robin Wood, Roger Paredes, Jean‐Michel Molina, Marie Helleberg, Nureen Jina, Cissy Kityo, Éric Florence, Mark N. Polizzotto, James D. Neaton, H. Clifford Lane, Jens Lundgren   +18 more
openalex   +1 more source

The effect of LGB gene polymorphism on milk productivity indicators of Kholmogorsky cows

RUDN Journal of Agronomy and Animal Industries
In modern breeding work, considerable attention is paid to genetic resources of cattle, genetic assessment of which, with proper crossbreeding and selection, can increase efficiency of the entire industry.
Natalya A. Khudyakova, Ekaterina N. Shchipakova, Andrey S. Kashin   +2 more
doaj   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

ABO Rhesus phenotypic and allelic frequencies in blood donors in Oran

Journal de la Faculté de Médecine d'Oran, 2017
Introduction - The objective of this study is to estimate the phenotypic and gene frequencies of the ABO and Rhesus (D) systems in blood donors in Oran.
Tahar Deba, Sarah Ayad, Hichem Setti, Anouar Lahmer, Mohamed Hammadi   +4 more
doaj  

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Results in table beet breeding (Review)

International Journal of Horticultural Science, 2000
Results in table beet breeding (Review)
M. Takácsné Hájos
doaj   +1 more source

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin, Thomas R. Riley IV, Kristin Wipfler, Kaleb Michaud, Austin Wheeler, Bryant R. England, Brian Sauer, Katherine D. Wysham, Rui Xiao, Michael March, Grant W. Cannon, Sylvanus Toikumo, Henry R. Kranzler, Rachel L. Kember, Ted R. Mikuls, Joshua F. Baker   +15 more
wiley   +1 more source