Works matching DE "HOMOZYGOSITY"

Results: 1469

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1117, doi. 10.3390/biomedicines13051117

By:

D'Esposito, Fabiana;
Capobianco, Matteo;
Gagliano, Caterina;
Avitabile, Alessandro;
Gagliano, Giuseppe;
Esposito, Gabriella;
Dammino, Edoardo;
Carotenuto, Antonio;
Zeppieri, Marco

Publication type:

Article

Search for Ancient Selection Traces in Faverolle Chicken Breed (Gallus gallus domesticus) Based on Runs of Homozygosity Analysis.

Published in:

Animals (2076-2615), 2025, v. 15, n. 10, p. 1487, doi. 10.3390/ani15101487

By:

Ryabova, Anna E.;
Azovtseva, Anastasiia I.;
Shcherbakov, Yuri S.;
Dysin, Artem P.;
Dementieva, Natalia V.

Publication type:

Article

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 11, p. 1651, doi. 10.1007/s10815-015-0565-4

By:

Ghédir, Houda;
Gribaa, Moez;
Mamaî, Ons;
Ben Charfeddine, Ilhem;
Braham, Asma;
Amara, Abdelbasset;
Mehdi, Meriem;
Saad, Ali;
Ibala-Romdhane, Samira

Publication type:

Article

An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10391-9

By:

Kong, Xiangsha;
Feng, Bo;
Huang, Zixiang;
Rao, Huiying;
Chen, Hongsong;
Liu, Feng;
Liu, Xiaofang;
Shi, Yijun;
Wu, Nan

Publication type:

Article

Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 1, p. 71, doi. 10.1007/s00414-018-1811-y

By:

Guzmán-Alberto, Jesica Carina;
Martínez-Cortes, Gabriela;
Rangel-Villalobos, Héctor

Publication type:

Article

Carnosinase concentration, activity, and CNDP1 genotype in patients with type 2 diabetes with and without nephropathy.

Published in:

Amino Acids, 2019, v. 51, n. 4, p. 611, doi. 10.1007/s00726-018-02692-0

By:

Zhang, Shiqi;
Albrecht, Thomas;
Rodriguez-Niño, Angelica;
Qiu, Jiedong;
Schnuelle, Peter;
Peters, Verena;
Schmitt, Claus Peter;
van den Born, Jacob;
Bakker, Stephan J. L.;
Lammert, Alexander;
Krämer, Bernhard K.;
Yard, Benito A.;
Hauske, Sibylle J.

Publication type:

Article

veqtl-mapper: variance association mapping for molecular phenotypes.

Published in:

Bioinformatics, 2017, v. 33, n. 17, p. 2772, doi. 10.1093/bioinformatics/btx273

By:

Brown, Andrew Anand

Publication type:

Article

GenomeScope: fast reference-free genome profiling from short reads.

Published in:

Bioinformatics, 2017, v. 33, n. 14, p. 2202, doi. 10.1093/bioinformatics/btx153

By:

Vurture, Gregory W.;
Sedlazeck, Fritz J.;
Nattestad, Maria;
Underwood, Charles J.;
Han Fang;
Gurtowski, James;
Schatz, Michael C.

Publication type:

Article

GARLIC: Genomic Autozygosity Regions Likelihood-based Inference and Classification.

Published in:

Bioinformatics, 2017, v. 33, n. 13, p. 2059, doi. 10.1093/bioinformatics/btx102

By:

Szpiech, Zachary A.;
Blant, Alexandra;
Pemberton, Trevor J.

Publication type:

Article

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data.

Published in:

Bioinformatics, 2016, v. 32, n. 11, p. 1749, doi. 10.1093/bioinformatics/btw044

By:

Narasimhan, Vagheesh;
Danecek, Petr;
Scally, Aylwyn;
Yali Xue;
Tyler-Smith, Chris;
Durbin, Richard

Publication type:

Article

Modeling genome coverage in single-cell sequencing.

Published in:

Bioinformatics, 2014, v. 30, n. 22, p. 3159, doi. 10.1093/bioinformatics/btu540

By:

Daley, Timothy;
Smith, Andrew D.

Publication type:

Article

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Published in:

Bioinformatics, 2014, v. 30, n. 20, p. 2852, doi. 10.1093/bioinformatics/btu401

By:

Magi, Alberto;
Tattini, Lorenzo;
Palombo, Flavia;
Benelli, Matteo;
Gialluisi, Alessandro;
Giusti, Betti;
Abbate, Rosanna;
Seri, Marco;
Gensini, Gian Franco;
Romeo, Giovanni;
Pippucci, Tommaso

Publication type:

Article

FSuite: exploiting inbreeding in dense SNP chip and exome data.

Published in:

Bioinformatics, 2014, v. 30, n. 13, p. 1940, doi. 10.1093/bioinformatics/btu149

By:

Gazal, Steven;
Sahbatou, Mourad;
Babron, Marie-Claude;
Génin, Emmanuelle;
Leutenegger, Anne-Louise

Publication type:

Article

HomSI: a homozygous stretch identifier from next-generation sequencing data.

Published in:

Bioinformatics, 2014, v. 30, n. 3, p. 445, doi. 10.1093/bioinformatics/btt686

By:

Görmez, Zeliha;
Bakir-Gungor, Burcu;
Sağıroğlu, Mahmut Şamil

Publication type:

Article

深县猪催乳素受体（PRLR）基因 SNPs 位点多态性及其与繁殖性能的相关分析.

Published in:

Feed Research, 2022, v. 45, n. 23, p. 78, doi. 10.13557/j.cnki.issn1002-2813.2022.23.016

By:

贾梦雨;
芦春莲;
李尚;
宋佳纯;
李美杰;
桂若虹;
李赛;
曹洪战

Publication type:

Article

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.

Published in:

Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00237-w

By:

Barton, James C.;
Barton, J. Clayborn;
Acton, Ronald T.

Publication type:

Article

Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 9, p. 232, doi. 10.3390/jcm7090232

By:

Karan, Radmila;
Cvjeticanin, Suzana;
Kovacevic-Kostic, Natasa;
Nikolic, Dejan;
Velinovic, Milos;
Milicevic, Vladimir;
Obrenovic-Kircanski, Biljana

Publication type:

Article

Morphogenetic Variability and Hypertension in Ischemic Stroke Patients—Preliminary Study.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 7, p. 162, doi. 10.3390/jcm7070162

By:

Savic, Milan;
Cvjeticanin, Suzana;
Lazovic, Milica;
Nikcevic, Ljubica;
Nikolic, Dejan

Publication type:

Article

The Gender Impact on Morphogenetic Variability in Coronary Artery Disease: A Preliminary Study.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 5, p. 103, doi. 10.3390/jcm7050103

By:

Karan, Radmila;
Obrenovic-Kircanski, Biljana;
Cvjeticanin, Suzana;
Kovacevic-Kostic, Natasa;
Velinovic, Milos;
Milicevic, Vladimir;
Vranes-Stoimirov, Milica;
Nikolic, Dejan

Publication type:

Article

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

Published in:

Journal of Neurogenetics, 2018, v. 32, n. 4, p. 316, doi. 10.1080/01677063.2018.1476510

By:

Pironti, Erica;
Salpietro, Vincenzo;
Cucinotta, Francesca;
Granata, Francesca;
Mormina, Enricomaria;
Efthymiou, Stephanie;
Scuderi, Carmela;
Gagliano, Antonella;
Houlden, Henry;
Di Rosa, Gabriella

Publication type:

Article

A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.

Published in:

Journal of Neurogenetics, 2018, v. 32, n. 4, p. 313, doi. 10.1080/01677063.2018.1473862

By:

Todd, Brittany P.;
Bassuk, Alexander G.

Publication type:

Article

Meta‐analysis of the Influence of UGT Genetic Polymorphisms on Lamotrigine Concentration.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2019, v. 124, n. 2, p. 163, doi. 10.1111/bcpt.13120

By:

Kim, Su Cheol;
Kim, Myeong Gyu

Publication type:

Article

Genetic Diversity and Population Structure of Common Bean (Phaseolus vulgaris L.) Landraces in the Lazio Region of Italy.

Published in:

Plants (2223-7747), 2023, v. 12, n. 4, p. 744, doi. 10.3390/plants12040744

By:

Catarcione, Giulio;
Paolacci, Anna Rita;
Alicandri, Enrica;
Gramiccia, Elena;
Taviani, Paola;
Rea, Roberto;
Costanza, Maria Teresa;
De Lorenzis, Gabriella;
Puccio, Guglielmo;
Mercati, Francesco;
Ciaffi, Mario

Publication type:

Article

Identifying Parameters for Defining "Essentially Derived Varieties" of Maize Inbred Lines Using High-Throughput Genome-Wide SNP Markers.

Published in:

Plants (2223-7747), 2022, v. 11, n. 15, p. 1909, doi. 10.3390/plants11151909

By:

Yan, Yuanyuan;
Sun, Shanqiu;
Xing, Ruixia;
Jiang, Haiyang;
Cheng, Beijiu

Publication type:

Article

Differential Expression Profiling Reveals Stress-Induced Cell Fate Divergence in Soybean Microspores.

Published in:

Plants (2223-7747), 2020, v. 9, n. 11, p. 1510, doi. 10.3390/plants9111510

By:

Hale, Brett;
Phipps, Callie;
Rao, Naina;
Wijeratne, Asela;
Phillips, Gregory C.

Publication type:

Article

Homozygous Transgenic Barley (Hordeum vulgare L.) Plants by Anther Culture.

Published in:

Plants (2223-7747), 2020, v. 9, n. 7, p. 918, doi. 10.3390/plants9070918

By:

Ohnoutková, Ludmila;
Vlčko, Tomáš

Publication type:

Article

Genetic Variance Estimates for Maize Yield, Grain Moisture, and Stalk Lodging for Doubled-Haploid and Conventional Selfed-Line Hybrids.

Published in:

Plants (2223-7747), 2020, v. 9, n. 2, p. 138, doi. 10.3390/plants9020138

By:

Mowers, Ronald P.;
Foster, David J.

Publication type:

Article

Never the Two Shall Mix: Robust Indel Markers to Ensure the Fidelity of Two Pivotal and Closely-Related Accessions of Brachypodium distachyon.

Published in:

Plants (2223-7747), 2019, v. 8, n. 6, p. 153, doi. 10.3390/plants8060153

By:

Brew-Appiah, Rhoda A. T.;
Peracchi, Luigi M.;
Sanguinet, Karen A.

Publication type:

Article

Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 2, p. 448, doi. 10.1002/acn3.52293

By:

Zubair, Umar;
Yang, Kathryn;
Schierbaum, Luca;
Tam, Amy;
Battaglia, Nicole;
Rong, Joshua;
Quiroz, Vicente;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

<italic>GLS</italic> loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 216, doi. 10.1002/acn3.522

By:

Lynch, David S.;
Chelban, Viorica;
Vandrovcova, Jana;
Pittman, Alan;
Wood, Nicholas W.;
Houlden, Henry

Publication type:

Article

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 276, doi. 10.1002/acn3.401

By:

McGlade, Amelia;
Myers, Kenneth A.;
Berkovic, Samuel F.;
Scheffer, Ingrid E.;
Petrovski, Slavé;
Hildebrand, Michael S.

Publication type:

Article

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 272, doi. 10.1002/acn3.402

By:

Guinto, Cheick O.;
Diarra, Salimata;
Diallo, Salimata;
Cissé, Lassana;
Coulibaly, Thomas;
Diallo, Seybou H.;
Taméga, Abdoulaye;
Chen, Ke‐Lian;
Schindler, Alice B.;
Bagayoko, Koumba;
Simaga, Assiatou;
Blackstone, Craig;
Fischbeck, Kenneth H.;
Landouré, Guida

Publication type:

Article

Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 278, doi. 10.1002/acn3.403

By:

Strug, Lisa J.;
Pal, Deb K.

Publication type:

Article

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372

By:

Kambouris, Marios;
Thevenon, Julien;
Soldatos, Ariane;
Cox, Allison;
Stephen, Joshi;
Ben‐Omran, Tawfeg;
Al‐Sarraj, Yasser;
Boulos, Hala;
Bone, William;
Mullikin, James C.;
Masurel‐Paulet, Alice;
St‐Onge, Judith;
Dufford, Yannis;
Chantegret, Corrine;
Thauvin‐Robinet, Christel;
Al‐Alami, Jamil;
Faivre, Laurence;
Riviere, Jean Baptiste;
Gahl, William A.;
Bassuk, Alexander G.

Publication type:

Article

Novel Graphical Analyses of Runs of Homozygosity among Species and Livestock Breeds.

Published in:

International Journal of Genomics, 2016, p. 1, doi. 10.1155/2016/2152847

By:

Iacolina, Laura;
Stronen, Astrid V.;
Pertoldi, Cino;
Tokarska, Małgorzata;
Nørgaard, Louise S.;
Muñoz, Joaquin;
Kjærsgaard, Anders;
Ruiz-Gonzalez, Aritz;
Kamiński, Stanisław;
Purfield, Deirdre C.

Publication type:

Article

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Published in:

2016

By:

LOIZIDOU, MARIA A.;
HADJISAVVAS, ANDREAS;
TANTELES, GEORGE A.;
SPANOU-ARISTIDOU, ELENA;
KYRIACOU, KYRIACOS;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

Publication type:

Case Study

Identification of runs of homozygosity in Western honey bees (Apis mellifera) using whole‐genome sequencing data.

Published in:

Ecology & Evolution (20457758), 2023, v. 13, n. 1, p. 1, doi. 10.1002/ece3.9723

By:

Gmel, Annik Imogen;
Guichard, Matthieu;
Dainat, Benjamin;
Williams, Geoffrey Rhys;
Eynard, Sonia;
Vignal, Alain;
Servin, Bertrand;
Neuditschko, Markus

Publication type:

Article

Heterozygosity levels and estimation of self‐fertilization in an invasive species.

Published in:

Ecology & Evolution (20457758), 2020, v. 10, n. 24, p. 14451, doi. 10.1002/ece3.6885

By:

Hedrick, Philip W.

Publication type:

Article

Estimating the inbreeding level and genetic relatedness in an isolated population of critically endangered Sichuan taimen (Hucho Bleekeri) using genome‐wide SNP markers.

Published in:

Ecology & Evolution (20457758), 2020, v. 10, n. 3, p. 1390, doi. 10.1002/ece3.5994

By:

Zhang, Yongquan;
Luan, Peixian;
Ren, Guangming;
Hu, Guo;
Yin, Jiasheng

Publication type:

Article

A loss of heterozygosity, a loss in competition? The effects of inbreeding, pre- and postnatal conditions on nestling development.

Published in:

Ecology & Evolution (20457758), 2016, v. 6, n. 21, p. 7921, doi. 10.1002/ece3.2496

By:

Boer, Raïssa A.;
Eens, Marcel;
Müller, Wendt

Publication type:

Article

Runs of homozygosity and testicular cancer risk.

Published in:

Andrology, 2019, v. 7, n. 4, p. 555, doi. 10.1111/andr.12667

By:

Loveday, C.;
Sud, A.;
Litchfield, K.;
Levy, M.;
Holroyd, A.;
Broderick, P.;
Kote‐Jarai, Z.;
Dunning, A. M.;
Muir, K.;
Peto, J.;
Eeles, R.;
Easton, D. F.;
Dudakia, D.;
Orr, N.;
Pashayan, N.;
Reid, A.;
Huddart, R. A.;
Houlston, R. S.;
Turnbull, C.;
Rustin, Gordon

Publication type:

Article

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.

Published in:

Urolithiasis, 2015, v. 43, n. 5, p. 441, doi. 10.1007/s00240-015-0790-4

By:

Gabrikova, Dana;
Bernasovska, Jarmila;
Sokolova, Jitka;
Stiburkova, Blanka

Publication type:

Article

THEME 7 GENETICS.

Published in:: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, p. 148, doi. 10.3109/21678421.2013.838422
Publication type:: Article

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 444, doi. 10.3109/21678421.2012.758288

By:

Droppelmann, Cristian A.;
Wang, Jian;
Campos-Melo, Danae;
Keller, Brian;
Volkening, Kathryn;
Hegele, Robert A.;
Strong, Michael J.

Publication type:

Article

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Published in:

Microarrays (2076-3905), 2015, v. 4, n. 4, p. 490, doi. 10.3390/microarrays4040490

By:

Nickerson, Sarah L.;
Marquis-Nicholson, Renate;
Claxton, Karen;
Ashton, Fern;
Leong, Ivone U. S.;
Prosser, Debra O.;
Love, Jennifer M.;
George, Alice M.;
Taylor, Graham;
Wilson, Callum;
McKinlay Gardner, R. J.;
Love, Donald R.

Publication type:

Article

Determinants of Human Asymmetry: Does Asymmetrical Retinal Vasculature Predict Asymmetry Elsewhere in the Body?

Published in:

Life (2075-1729), 2024, v. 14, n. 8, p. 929, doi. 10.3390/life14080929

By:

Plećaš, Doris;
Gotovac Đogaš, Vesna;
Polašek, Ozren;
Škunca Herman, Jelena

Publication type:

Article

Genetic diversity, population structure and origin of the native goats in Central Laos.

Published in:

Journal of Animal Breeding & Genetics, 2024, v. 141, n. 5, p. 531, doi. 10.1111/jbg.12862

By:

Le, Sang V.;
de las Heras‐Saldana, Sara;
Alexandri, Panoraia;
Olmo, Luisa;
Walkden‐Brown, Stephen W.;
van der Werf, Julius H. J.

Publication type:

Article

Reproductive traits in Pura Raza Española mares manifest inbreeding depression from low levels of homozygosity.

Published in:

Journal of Animal Breeding & Genetics, 2024, v. 141, n. 4, p. 453, doi. 10.1111/jbg.12856

By:

Laseca, Nora;
Ziadi, Chiraz;
Perdomo‐Gonzalez, Davinia I.;
Valera, Mercedes;
Demyda‐Peyras, Sebastián;
Molina, Antonio

Publication type:

Article

Characterization of runs of homozygosity islands in American mink using whole‐genome sequencing data.

Published in:

Journal of Animal Breeding & Genetics, 2024, v. 141, n. 5, p. 507, doi. 10.1111/jbg.12859

By:

Davoudi, Pourya;
Do, Duy Ngoc;
Rathgeber, Bruce;
Colombo, Stefanie;
Sargolzaei, Mehdi;
Plastow, Graham;
Wang, Zhiquan;
Miar, Younes

Publication type:

Article

Inbreeding depression and runs of homozygosity islands in Asturiana de los Valles cattle breed after 30 years of selection.

Published in:

Journal of Animal Breeding & Genetics, 2024, v. 141, n. 4, p. 440, doi. 10.1111/jbg.12853

By:

Cortes, Oscar;
Cañon, Javier;
Andrino, Sara;
Fernanadez, María;
Carleos, Carlos

Publication type:

Article