Works matching DE "GENETIC variation"

Results: 5000

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100038

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Agarwal, Kamlesh Kumar;
Agarwal, Lokesh Kumar;
Mathur, Avisha;
Choudhary, Deepti

Publication type:

Article

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100037

By:

Yuanfan Yuan;
Qianqian Huang;
Jiehan Zhang;
Zehua Zhou;
Qing Wan;
Lulu Chen;
Tianshu Zeng;
Huiqing Li;
Qiao Zhang;
Xiang Hu

Publication type:

Article

The genetic susceptibility of SOD2 gene polymorphism in sudden sensorineural hearing loss (SSNHL).

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100021

By:

Jiahong Deng;
Guifang Ma;
Xianbao Cao;
Yulian Chen;
Lv Hu;
Jinqian Zhang

Publication type:

Article

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100035

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Vijay, Urvashi;
Gupta, Ashok;
Agarwal, Kamlesh;
Agrawal, Lokesh

Publication type:

Article

Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100008

By:

Krishnamurthy, Nandini;
Krishna, Devi;
Sanjana;
Rathinasamy, Jebaraj;
Kumar, Ashok;
Francis, Andrea Mary

Publication type:

Article

Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children.

Published in:

JAMA Pediatrics, 2025, v. 179, n. 6, p. 655, doi. 10.1001/jamapediatrics.2025.0205

By:

Bourque, Vincent-Raphaël;
Schmilovich, Zoe;
Huguet, Guillaume;
England, Jade;
Okewole, Adeniran;
Poulain, Cécile;
Renne, Thomas;
Jean-Louis, Martineau;
Saci, Zohra;
Zhang, Xinhe;
Rolland, Thomas;
Labbé, Aurélie;
Vorstman, Jacob;
Rouleau, Guy A.;
Baron-Cohen, Simon;
Mottron, Laurent;
Bethlehem, Richard A. I.;
Warrier, Varun;
Jacquemont, Sébastien

Publication type:

Article

Leveraging shared variation among traits for the discovery of genetic variants in complex phenotypes such as obesity.

Published in:

Obesity (19307381), 2025, v. 33, n. 6, p. 1025, doi. 10.1002/oby.24313

By:

Fernández‐Verdejo, Rodrigo;
Hughes, David;
Ravussin, Eric

Publication type:

Article

Enhancing Genetic Studies on Rheumatic Diseases in Latin America: The IARGE-RD Initiative.

Published in:

Journal of Rheumatology, 2025, v. 52, n. 6, p. 614, doi. 10.3899/jrheum.2024-1233

By:

Durán, Josefina;
Pons-Estel, Bernardo A.;
Alarcón-Riquelme, Marta E.;
Peña, Roberto Díaz

Publication type:

Article

Ancestry Adjustments in Genome-Wide Association Studies of Randomized Clinical Trials.

Published in:

Statistics in Biopharmaceutical Research, 2014, v. 6, n. 2, p. 137, doi. 10.1080/19466315.2013.873000

By:

Lunceford, Jared K.;
Cheng, Jeff;
Wong, Peggy;
Mehrotra, Devan V.

Publication type:

Article

Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 289, doi. 10.1159/000538895

By:

Uehara, Erika;
Hori, Naoaki;
Tanase-Nakao, Kanako;
Akiba, Kazuhisa;
Sueoka, Hidefumi;
Matsubara, Keiko;
Narumi, Satoshi

Publication type:

Article

Agromorphological Characterization of Passiflora edulis f. flavicarpa Degener in Miraflores, Colombia.

Published in:

International Journal of Agronomy, 2025, v. 2025, p. 1, doi. 10.1155/ioa/3277821

By:

Muñoz-Fonseca, Daniel Alberto;
Manjarres-Hernández, Elsa Helena;
Morillo-Coronado, Ana Cruz;
Chaudhary, Nidhi

Publication type:

Article

Genetic insights into forensic features and population structure of the Hajong tribe in the Indian regions of Eastern Himalaya.

Published in:

Molecular Genetics & Genomics, 2025, v. 300, n. 1, p. 1, doi. 10.1007/s00438-025-02262-6

By:

Vahinde, Avinash;
Niranjan, Penny H.;
Priyank, Gaurav;
Niji, Chubi;
Sahajpal, Vivek;
Rana, Ajay S.;
Bhandari, Deepika;
Kumar, Satish;
Nidhi, Sweta;
Singh, Abhishek

Publication type:

Article

Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing.

Published in:

Acta Diabetologica, 2025, v. 62, n. 6, p. 935, doi. 10.1007/s00592-024-02410-1

By:

Liu, Yanxia;
Ren, Shuxin;
Zhu, Chaofeng;
Chen, Sufang;
Zhang, Huijuan;
Zhang, Juan;
Li, Jianhua;
Jiang, Yanyan

Publication type:

Article

Assessment the Correlation and Heritability of Promising Sugarcane Varieties for Yield and Quality Attributes Affected by Pre-Harvest Irrigation Withholding Periods.

Published in:

Journal of Plant Production, 2025, v. 16, n. 5, p. 217, doi. 10.21608/jpp.2025.376271.1448

By:

A. S. A., Saadan;
Abazied, Sakina R.;
Abu-Ellail, F. F. B.

Publication type:

Article

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1

By:

Kobayashi, Yuki;
Adachi, Takeya;
Tahara, Umi;
Tanaka, Moemi;
Arakawa, Hiroki;
Funatsu, Yohei;
Moritani, Kazunori;
Yamada, Mamiko;
Kosaki, Kenjiro;
Inazumi, Toyoko

Publication type:

Article

白及SRAP-PCR 反应体系正交设计优化及引物筛选.

Published in:

Fujian Agricultural Science & Technology, 2025, v. 56, n. 3, p. 18, doi. 10.13651/j.cnki.fjnykj.2025.03.003

By:

桂腾琴;
李春艳;
韦燕;
武忠亮;
张思平

Publication type:

Article

Expression of kinetochore component NDC80 promotes esophageal squamous cell carcinoma cells proliferation and migration.

Published in:

BMC Gastroenterology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12876-025-04048-x

By:

Shi, Youwu;
Sun, Jing;
Du, Feng;
Sun, Zhiwei;
Yang, Ying;
Yu, Jing;
Xiao, Yanjie;
Sun, Xiaoyu;
Zhang, Wen;
Zheng, Hongkun;
Zhang, Xiaodong;
Jia, Jun

Publication type:

Article

Pytrf: a python package for finding tandem repeats from genomic sequences.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06168-3

By:

Du, Lianming;
Sun, Dalin;
Chen, Jiahao;
Zhou, Xinyi;
Zhao, Kelei;
Zeng, Qianglin;
Yang, Nan

Publication type:

Article

Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 225, doi. 10.1159/000542147

By:

Yin, Lizhong;
Wang, Jing;
Zhang, Bin;
Wang, Wenli;
Yu, Bin

Publication type:

Article

Chlorella vulgaris mutants with altered cell walls show increased permeability and enhanced extractability of intracellular molecules.

Published in:

Biotechnology for Biofuels & Bioproducts, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13068-025-02663-0

By:

Canteri, Paolo;
Battarra, Claudia;
Mandalà, Giulia;
Monti, Francesca;
Bellini, Erika;
Hidasi, Nora;
Guardini, Zeno;
Ferrari, Simone;
Bassi, Roberto;
Dall'Osto, Luca

Publication type:

Article

基于全基因组重测序的重庆市水稻稻曲菌遗传多样性分析.

Published in:

Southwest China Journal of Agricultural Sciences, 2025, v. 38, n. 3, p. 562, doi. 10.16213/j.enki.sejas.2025.3.013

By:

黎青;
何焕然;
李诗雨;
郭静微;
唐贵婷;
魏真真;
宋正富

Publication type:

Article

黄灯笼辣椒叶绿体基因组特征分析.

Published in:

Southwest China Journal of Agricultural Sciences, 2025, v. 38, n. 3, p. 498, doi. 10.16213/j.enki.sejas.2025.3.007

By:

付文婷;
吴迪;
王楠艺;
涂祥敏;
黄冬福;
杨万荣;
何建文

Publication type:

Article

Household clustering and seasonal genetic variation of Plasmodium falciparum at the community-level in The Gambia.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.103047

By:

Guery, Marc-Antoine;
Ceesay, Sukai;
Drammeh, Sainabou;
Jaiteh, Fatou K.;
D'Alessandro, Umberto;
Bousema, Teun;
Conway, David J.;
Claessens, Antoine

Publication type:

Article

Wild Cicer species exhibit superior leaf photosynthetic phosphorus‐ and water‐use efficiencies compared with cultivated chickpea under low‐phosphorus conditions.

Published in:

New Phytologist, 2025, v. 247, n. 1, p. 144, doi. 10.1111/nph.70185

By:

Pang, Jiayin;
Li, Simiao;
Mathesius, Ulrike;
Berger, Jens;
Zhang, Weina;
Sawant, Komal D.;
Varshney, Rajeev K.;
Siddique, Kadambot H. M.;
Lambers, Hans

Publication type:

Article

Genetic diversity of nine elite Rosa damascena genotypes using molecular markers.

Published in:

Iranian Journal of Genetics & Plant Breeding (IJGPB), 2024, v. 13, n. 2, p. 21, doi. 10.30479/ijgpb.2025.21355.1386

By:

Mohammadi, Yousef;
Banaei-asl, Farzad

Publication type:

Article

Assessment of genetic diversity among local accessions of melon and identification of DNA markers linked with agro-morphological characteristics.

Published in:

Iranian Journal of Genetics & Plant Breeding (IJGPB), 2024, v. 13, n. 2, p. 11, doi. 10.30479/ijgpb.2025.20366.1371

By:

Ajalli, Pedram;
Mohebalipour, Nasser;
Nourafcan, Hassan;
HatamiMaleki, Hamaid;
Faramarzi, Ali

Publication type:

Article

Distribution and genotypic analysis of Enterocytozoon bieneusi from cats in Korea.

Published in:

Parasites, Hosts & Diseases, 2025, v. 63, n. 2, p. 188, doi. 10.3347/PHD.25019

By:

Park, Heon-Moo;
Lee, Haeseung;
Sung, So-Young;
Nazim, Kaifa;
Jang, Bo-Yoon;
Sung, Ki-Chang;
Lee, Seung-Hun;
Seo, Min-Goo;
Rhee, Man Hee;
Kwak, Dongmi

Publication type:

Article

Analysis of post-authorisation safety studies in developing countries: the middle eastern and north African experience.

Published in:

Pan African Medical Journal One Health, 2025, v. 16, p. 1, doi. 10.11604/pamj-oh.2025.16.8.45075

By:

Panourgia, Alina;
Talbot, John;
Kopečná, Eva

Publication type:

Article

Broadening the gene base of peanut breeding using incompatible wild species.

Published in:

Oil Crop Science, 2025, v. 10, n. 1, p. 44, doi. 10.1016/j.ocsci.2024.11.004

By:

Chunjiao Jiang;
Jiakai Li;
Haojie Sun;
Zhiwei Wang;
Zhen Yang;
Chuantang Wang

Publication type:

Article

CCL11 rs16969415 and CCR3 rs4987053 gene variants and endometrial cancer risk.

Published in:

Anatolian Clinic Journal of Medical Sciences, 2025, v. 30, n. 2, p. 162, doi. 10.21673/anadoluklin.1598648

By:

Yagci, Emine;
Olgen, Muhammed;
Zengin, Gamze;
Ozbayer, Cansu;
Oge, Tufan;
Kurt, Hulyam

Publication type:

Article

Does genetically determined variation in C-reactive protein affect disease activity assessment in rheumatoid arthritis?

Published in:

2025

By:

Acosta-Herrera, Marialbert;
Martin, Javier;
González-Gay, Miguel A

Publication type:

Editorial

An enrichment‐based capture method from nuclear environmental DNA presents new opportunities for population genomics: A case study on the common frog.

Published in:

Methods in Ecology & Evolution, 2025, v. 16, n. 6, p. 1106, doi. 10.1111/2041-210X.70039

By:

Manel, Stéphanie;
Gauthier, Jérémy;
Benestan, Laura;
Dubois, Marie‐Pierre;
Romant, Lola;
Macé, Bastien;
Bruno, Morgane;
Arnal, Véronique;
Testud, Guillaume;
Garcia, Manon;
Carrasquer Puyal, Inés;
Bilat, Julia;
Miaud, Claude;
Alvarez, Nadir

Publication type:

Article

Contributing to the Functional Classification of Missense Variants in RAG1 Protein from Structural Perspective.

Published in:

Experimed, 2025, v. 15, n. 1, p. 31, doi. 10.26650/experimed.1562959

By:

Kutlu, Asli;
Isikgil, Begum;
Firtina, Sinem

Publication type:

Article

Ekmeklik buğdayda (Triticum aestivum L.) önemli tane verimi özellikleri için heterosis ve heterobeltiosis etkisinin belirlenmesi.

Published in:

Mustafa Kemal University Journal of Agricultural Sciences / Mustafa Kemal Üniversitesi Tarım Bilimleri Dergisi, 2025, v. 30, n. 1, p. 48, doi. 10.37908/mkutbd.1558468

By:

KURT, Pakize Özlem

Publication type:

Article

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1

By:

Kobayashi, Yuki;
Adachi, Takeya;
Tahara, Umi;
Tanaka, Moemi;
Arakawa, Hiroki;
Funatsu, Yohei;
Moritani, Kazunori;
Yamada, Mamiko;
Kosaki, Kenjiro;
Inazumi, Toyoko

Publication type:

Article

The genetic landscape of pediatric postural orthostatic tachycardia syndrome.

Published in:

Clinical Autonomic Research, 2025, v. 35, n. 3, p. 431, doi. 10.1007/s10286-025-01110-2

By:

Qu, Huiqi;
Qu, Jingchun;
Chang, Xiao;
Williams, Nolan;
Mentch, Frank;
Snyder, James;
Lemma, Maria;
Nguyen, Kenny;
Behr, Meckenzie;
March, Michael;
Connolly, John;
Glessner, Joseph;
Boris, Jeffrey R.;
Hakonarson, Hakon

Publication type:

Article

EVALUATION ON GENETIC DIVERSITY OF PHENOTYPIC TRAITS IN MYROBALAN PLUM (Prunus Cerasifera EHRH.).

Published in:

South-Western Journal of Horticulture Biology & Environment, 2018, v. 9, n. 1, p. 25

By:

COSMULESCU, Sina Niculina;
IONICA, Mira Elena;
MUTU, Nicoleta

Publication type:

Article

Unveiling the virulence, genetic links, and enzyme profiles of bivalve-associated Vibrio parahaemolyticus from the southwest coast of India.

Published in:

Letters in Applied Microbiology, 2025, v. 78, n. 5, p. 1, doi. 10.1093/lambio/ovaf069

By:

Bhaskaran, Remya;
Ramachandra, Krupesha Sharma Sulumane;
Peter, Reynold;
Gopakumar, Sumithra T;
Vaiyapuri, Murugadas;
Vineeth, Rajan;
Vijayan, Ardhra;
M, Rithin R;
Ramanathan, Sreenath K

Publication type:

Article

The Impact of Adverse Childhood Experiences on the Development of Adolescent Risk-Taking: The Mediating Effect of Self-Control and Moderating Effect of Genetic Variations.

Published in:

Journal of Youth & Adolescence, 2025, v. 54, n. 6, p. 1356, doi. 10.1007/s10964-025-02136-5

By:

Wang, Lin-Xin;
Li, Jian-Bin;
Liu, Zi-Hao;
Zeng, Jin;
Dou, Kai

Publication type:

Article

Selective Diversity in RNA Viruses: Do They Know How to Evolve? A Hypothesis.

Published in:

BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400281

By:

Nemchinov, Lev G.

Publication type:

Article

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.

Published in:

BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400232

By:

Rodriguez‐Algarra, Francisco;
Whittaker, Elliott;
del Castillo del Rio, Sandra;
Rakyan, Vardhman K.

Publication type:

Article

Pseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.

Published in:

Cardiovascular Diabetology, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12933-025-02799-1

By:

Halperin, Reut;
Horwitz, Roi;
Schwarz, Yair;
Tirosh, Amit

Publication type:

Article

Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers.

Published in:

Arthritis & Rheumatology, 2025, v. 77, n. 5, p. 596, doi. 10.1002/art.43065

By:

Macaraeg, Marci;
Baker, Elizabeth;
Handorf, Elizabeth;
Matt, Michael;
Baker, Elizabeth K.;
Brunner, Hermine;
Grom, Alexei A.;
Henrickson, Michael;
Huggins, Jennifer;
Zhang, Wenying;
Lee, Pui;
Marsh, Rebecca;
Schulert, Grant S.

Publication type:

Article

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease.

Published in:

Arthritis & Rheumatology, 2025, v. 77, n. 5, p. 582, doi. 10.1002/art.43054

By:

Topping, Joanne;
Chang, Leon;
Nadat, Fatima;
Poulter, James A.;
Ibbotson, Alice;
Lara‐Reyna, Samuel;
Watson, Christopher M.;
Carter, Clive;
Pournara, Linda P.;
Zernicke, Jan;
Ross, Rebecca L.;
Cargo, Catherine;
Lyons, Paul A.;
Smith, Kenneth G. C.;
Del Galdo, Francesco;
Rech, Jürgen;
Fautrel, Bruno;
Feist, Eugen;
McDermott, Michael F.;
Savic, Sinisa

Publication type:

Article

Long-term outcome of CblC deficiency complicated with pulmonary hypertension.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03839-5

By:

Ding, Si;
Deng, Yuxin;
Hao, Lili;
Qiu, Wenjuan;
Wu, Shengnan;
Chen, Yongxing;
Chen, Ting;
Zhan, Xia;
Han, Lianshu;
Jiao, Xianting

Publication type:

Article

A full-length S1 gene sequencing of a novel emerged GI-19 and GI-23 lineages of Infectious bronchitis virus currently circulating in chicken flocks in upper Egypt reveals marked genetic diversity and recombination events.

Published in:

Virology Journal, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12985-025-02718-6

By:

Shosha, Eman;
Abdelnaser, Sara;
Zanaty, Ali Mahmoud

Publication type:

Article

An advanced 10K SNP panel for genotyping tomato (Solanum lycopersicum L.) via targeted genome sequencing.

Published in:

Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2025.1582241

By:

Adedze, Yawo Mawunyo Nevame;
Xu, Yanfen;
Liu, Song;
Zhao, Yaran;
Mo, Changjuan;
Zhang, Renxu;
Dong, Jiahui;
Lan, Haofa;
Huang, Jingjing;
Chen, Xingming;
Gao, Xuefei;
Yin, Qingzhen;
Zhang, Jianan

Publication type:

Article

The genome assembly of the westslope cutthroat trout, Oncorhynchus lewisi, reveals interspecific chromosomal rearrangements with the rainbow trout, Oncorhynchus mykissOpen Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 5, p. 1, doi. 10.1093/g3journal/jkaf064

By:

Flores, Anne-Marie;
Christensen, Kris A;
Godin, Theresa;
Palti, Yniv;
Campbell, Matthew R;
Waldbieser, Geoffrey C;
Simpson, Sheron A;
Scheffler, Brian E;
Smith, Seth R;
Whiteley, Andrew R;
Kovach, Ryan P;
Luikart, Gordon;
Boyer, Matthew C;
Kardos, Marty;
Relyea, Scott;
Wells, Craig;
Koop, Ben F

Publication type:

Article

Mining sorghum pangenome enabled identification of new dw3 alleles for breeding stable-dwarfing hybrids Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 5, p. 1, doi. 10.1093/g3journal/jkaf054

By:

Marla, Sandeep R;
Olatoye, Marcus;
Davis, Matthew;
Otchere, Vincent;
Sexton-Bowser, Sarah;
Morris, Geoffrey P;
Felderhoff, Terry

Publication type:

Article

Fraxinus excelsior updated long-read genome reveals the importance of MADS-box genes in tolerance mechanisms against ash dieback Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 5, p. 1, doi. 10.1093/g3journal/jkaf053

By:

Ortega, Sara Franco;
Bedford, James A;
James, Sally R;
Newling, Katherine;
Ashton, Peter D;
Boshier, David H;
Clark, Jo;
Hartley, Susan E;
Harper, Andrea L

Publication type:

Article