Results 71 to 80 of about 75,225 (256)

SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis

Risk Management and Healthcare Policy, 2021
Hailong Huang,1,2,* Meiying Cai,1,2,* Yan Wang,1,2 Bin Liang,1,2 Na Lin,1,2 Liangpu Xu1,2 1Center for Prenatal Diagnosis, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian Province, People&
Huang H, Cai M, Wang Y, Liang B, Lin N, Xu L   +5 more
doaj  

Large-scale deployment of a rice 6 K SNP array for genetics and breeding applications

Rice, 2017
Background Fixed arrays of single nucleotide polymorphism (SNP) markers have advantages over reduced representation sequencing in their ease of data analysis, consistently higher call rates, and rapid turnaround times.
Michael J. Thomson, Namrata Singh, Maria S. Dwiyanti, Diane R. Wang, Mark H. Wright, Francisco Agosto Perez, Genevieve DeClerck, Joong Hyoun Chin, Geraldine A. Malitic-Layaoen, Venice Margarette Juanillas, Christine J. Dilla-Ermita, Ramil Mauleon, Tobias Kretzschmar, Susan R. McCouch   +13 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping [PDF]

The Journal of Molecular Diagnostics, 2003
With the completion of the Human Genome Project, over 2 million sequence-verified single nucleotide polymorphisms (SNPs) have been deposited in public databases. The challenge has shifted from SNP identification to high-throughput SNP genotyping.
Daniel C, Chen, Janna, Saarela, Ilpo, Nuotio, Anne, Jokiaho, Leena, Peltonen, Aarno, Palotie   +5 more
openaire   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes

Risk Management and Healthcare Policy, 2021
Meiying Cai,* Hailong Huang,* Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Liangpu Xu, Na Lin Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for ...
Cai M, Huang H, Su L, Wu X, Xie X, Xu L, Lin N   +6 more
doaj  

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Multimodal Integration of Protein Interactomes With Genomic and Molecular Data Discovers Distinct Rheumatoid Arthritis Endotypes

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) is a heterogeneous autoimmune disease characterized by clinical and molecular heterogeneity, notably in the presence of anti–cyclic citrullinated peptide (CCP) antibodies. Patients with CCP+ RA exhibit more severe disease progression and distinct treatment responses compared to patients with CCP− RA.
Javad Rahimikollu, Priyamvada Guha Roy, Akash Kishore, Danica Morgan Lee, Lauren A. Vanderlinden, Kiran Nazarali, Fan Zhang, Dana P. Ascherman, Daniella M. Schwartz, Larry Moreland, Jishnu Das   +10 more
wiley   +1 more source