Works matching DE "HOMOZYGOSITY"

Results: 1484

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.

Published in:

2020

By:

Sezer, abdullah;
Kayhan, Gülsüm;
Koç, altuğ;
Ergün, Mehmet a.;
Perçin, Ferda E.

Publication type:

Abstract

Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.

Published in:

Cytogenetic & Genome Research, 2020, v. 160, n. 1, p. 2, doi. 10.1159/000504908

By:

Henderson, Brittany B.;
Chaubey, alka;
Roth, Lawrence M.;
Robboy, Stanley J.;
Tarasidis, Gregory;
Jones, Julie R.;
Sundermann, John M.;
Chou, Jeff;
Craddock, ann L.;
Stevenson, Leslie;
Friez, Michael J.;
Kincaid, Edward H.;
Stevenson, Roger E.

Publication type:

Article

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.

Published in:

Cytogenetic & Genome Research, 2019, v. 159, n. 1, p. 19, doi. 10.1159/000502598

By:

Paulraj, Prabakaran;
Bosworth, Michelle;
Longhurst, Maria;
Hornbuckle, Callie;
Gotway, Garrett;
Lamb, allen N.;
andersen, Erica F.

Publication type:

Article

Towards artificial seeds from microspore derived embryos of Brassica napus.

Published in:

Plant Cell, Tissue & Organ Culture, 2019, v. 139, n. 2, p. 207, doi. 10.1007/s11240-019-01692-6

By:

Iqbal, Mohammed Cassim Mohammed;
Möllers, Christian

Publication type:

Article

Gametic embryogenesis through isolated microspore culture in Corylus avellana L.

Published in:

Plant Cell, Tissue & Organ Culture, 2016, v. 124, n. 3, p. 635, doi. 10.1007/s11240-015-0921-1

By:

Gniech Karasawa, Marines;
Chiancone, Benedetta;
Gianguzzi, Valeria;
Abdelgalel, Ahmed;
Botta, Roberto;
Sartor, Chiara;
Germanà, Maria

Publication type:

Article

Recovery and characterization of homozygous lines from two sweet orange cultivars via anther culture.

Published in:

Plant Cell, Tissue & Organ Culture, 2015, v. 123, n. 3, p. 633, doi. 10.1007/s11240-015-0866-4

By:

Wang, Shu-Ming;
Lan, Hong;
Cao, Hong-Bo;
Xu, Qiang;
Chen, Chun-Li;
Deng, Xiu-Xin;
Guo, Wen-Wu

Publication type:

Article

Comprehensive characterization of plant material obtained by in vitro androgenesis in apple.

Published in:

Plant Cell, Tissue & Organ Culture, 2015, v. 122, n. 3, p. 617, doi. 10.1007/s11240-015-0794-3

By:

Höfer, Monika;
Flachowsky, Henryk

Publication type:

Article

Creation of a highly homozygous diploid potato using the S locus inhibitor (Sli) gene.

Published in:

Euphytica, 2020, v. 216, n. 11, p. 1, doi. 10.1007/s10681-020-02699-3

By:

Hosaka, Kazuyoshi;
Sanetomo, Rena

Publication type:

Article

Construction of a linkage map flanking the I locus controlling dominant white bulb color and analysis of differentially expressed genes between dominant white and red bulbs in onion (Allium cepa L.).

Published in:

Euphytica, 2020, v. 216, n. 6, p. 1, doi. 10.1007/s10681-020-02638-2

By:

Seo, Inho;
Kim, Ju-Gyeong;
Moon, Jae-Hak;
Kim, Sunggil

Publication type:

Article

QTL mapping in diploid potato by using selfed progenies of the cross S. tuberosum × S. chacoense.

Published in:

Euphytica, 2018, v. 214, n. 7, p. 1, doi. 10.1007/s10681-018-2191-6

By:

Meijer, D.;
Viquez-Zamora, M.;
Van Eck, H. J.;
Hutten, R. C. B.;
Su, Y.;
Rothengatter, R.;
Visser, R. G. F.;
Lindhout, W. H.;
Van Heusden, A. W.

Publication type:

Article

Assessment of wheat variety stability using SSR markers.

Published in:

Euphytica, 2014, v. 195, n. 3, p. 435, doi. 10.1007/s10681-013-1006-z

By:

Wang, Li Xin;
Li, Hong Bo;
Gu, Tie Cheng;
Liu, Li Hua;
Pang, Bin Shuang;
Qiu, Jun;
Zhao, Chang Ping

Publication type:

Article

Genome-wide insights into selection signatures for transcription factor binding sites in cattle ROH regions.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 541, doi. 10.1007/s00335-025-10113-3

By:

Nayak, Sonali Sonejita;
Panigrahi, Manjit;
Dutt, Triveni

Publication type:

Article

Runs of homozygosity and signatures of selection for number of oocytes and embryos in the Gir Indicine cattle.

Published in:

Mammalian Genome, 2023, v. 34, n. 3, p. 482, doi. 10.1007/s00335-023-09989-w

By:

Rocha, Renata de Fátima Bretanha;
Garcia, Arielly Oliveira;
Otto, Pamela Itajara;
da Silva, Marcos Vinícius Barbosa;
Martins, Marta Fonseca;
Machado, Marco Antônio;
Panetto, João Claudio do Carmo;
Guimarães, Simone Eliza Facioni

Publication type:

Article

SPINK1 Overexpression in Localized Prostate Cancer: a Rare Event Inversely Associated with ERG Expression and Exclusive of Homozygous PTEN Deletion.

Published in:

Pathology & Oncology Research, 2017, v. 23, n. 2, p. 399, doi. 10.1007/s12253-016-0119-9

By:

Huang, Kuo-Cheng;
Evans, Andrew;
Donnelly, Bryan;
Bismar, Tarek

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

iRhom2 mutation blocks bulge stem cells assuming the fate of hair follicle.

Published in:

Archives of Dermatological Research, 2016, v. 308, n. 7, p. 503, doi. 10.1007/s00403-016-1663-6

By:

Yang, Leilei;
Li, Wenlong;
Liu, Bing;
Wang, Shaoxia;
Zeng, Lin;
Zhang, Cuiping;
Li, Yang

Publication type:

Article

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.

Published in:

Archives of Dermatological Research, 2015, v. 307, n. 9, p. 793, doi. 10.1007/s00403-015-1590-y

By:

Jan, Abid;
Basit, Sulman;
Wakil, Salma;
Ramzan, Khushnooda;
Ahmad, Wasim

Publication type:

Article

High incidence of primary melanomas in an MC1R RHC homozygote/ CDKN2A mutant genotype patient.

Published in:

Archives of Dermatological Research, 2015, v. 307, n. 8, p. 741, doi. 10.1007/s00403-015-1582-y

By:

Sinnya, Sudipta;
Jagirdar, Kasturee;
De'Ambrosis, Brian;
McMeniman, Erin;
Sturm, Richard;
Soyer, H.

Publication type:

Article

A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle.

Published in:

Genetics Selection Evolution, 2020, v. 52, n. 1, p. N.PAG, doi. 10.1186/s12711-020-00586-y

By:

Becker, Doreen;
Weikard, Rosemarie;
Schulze, Christoph;
Wohlsein, Peter;
Kühn, Christa

Publication type:

Article

Inbreeding depression across the genome of Dutch Holstein Friesian dairy cattle.

Published in:

Genetics Selection Evolution, 2020, v. 52, n. 1, p. N.PAG, doi. 10.1186/s12711-020-00583-1

By:

Doekes, Harmen P.;
Bijma, Piter;
Veerkamp, Roel F.;
de Jong, Gerben;
Wientjes, Yvonne C. J.;
Windig, Jack J.

Publication type:

Article

Impact of merging commercial breeding lines on the genetic diversity of Landrace pigs.

Published in:

Genetics Selection Evolution, 2019, v. 51, n. 1, p. N.PAG, doi. 10.1186/s12711-019-0502-6

By:

Hulsegge, Ina;
Calus, Mario;
Hoving-Bolink, Rita;
Lopes, Marcos;
Megens, Hendrik-Jan;
Oldenbroek, Kor

Publication type:

Article

The impact of genomic selection on genetic diversity and genetic gain in three French dairy cattle breeds.

Published in:

Genetics Selection Evolution, 2019, v. 51, n. 1, p. N.PAG, doi. 10.1186/s12711-019-0495-1

By:

Doublet, Anna-Charlotte;
Croiseau, Pascal;
Fritz, Sébastien;
Michenet, Alexis;
Hozé, Chris;
Danchin-Burge, Coralie;
Laloë, Denis;
Restoux, Gwendal

Publication type:

Article

Analysis of a large dataset reveals haplotypes carrying putatively recessive lethal and semi-lethal alleles with pleiotropic effects on economically important traits in beef cattle.

Published in:

Genetics Selection Evolution, 2019, v. 51, n. 1, p. N.PAG, doi. 10.1186/s12711-019-0452-z

By:

Jenko, Janez;
Gorjanc, Gregor;
Hickey, John M.;
Johnsson, Martin;
McClure, Matthew C.;
Matthews, Daragh;
McClure, Jennifer

Publication type:

Article

Patterns of homozygosity in insular and continental goat breeds.

Published in:

Genetics Selection Evolution, 2018, v. 50, n. 1, p. N.PAG, doi. 10.1186/s12711-018-0425-7

By:

Cardoso, Taina F.;
Amills, Marcel;
Bertolini, Francesca;
Rothschild, Max;
Marras, Gabriele;
Boink, Geert;
Jordana, Jordi;
Capote, Juan;
Carolan, Sean;
Hallsson, Jón H.;
Kantanen, Juha;
Pons, Agueda;
Lenstra, Johannes A.

Publication type:

Article

Genome-wide patterns of homozygosity provide clues about the population history and adaptation of goats.

Published in:

Genetics Selection Evolution, 2018, v. 50, n. 1, p. N.PAG, doi. 10.1186/s12711-018-0424-8

By:

Bertolini, Francesca;
Cardoso, Tainã Figueiredo;
Marras, Gabriele;
Nicolazzi, Ezequiel L.;
Rothschild, Max F.;
Amills, Marcel

Publication type:

Article

Misidentification of runs of homozygosity islands in cattle caused by interference with copy number variation or large intermarker distances.

Published in:

Genetics Selection Evolution, 2018, v. 50, n. 1, p. N.PAG, doi. 10.1186/s12711-018-0414-x

By:

Nandolo, Wilson;
Utsunomiya, Yuri T.;
Mészáros, Gábor;
Wurzinger, Maria;
Khayadzadeh, Negar;
Torrecilha, Rafaela B. P.;
Mulindwa, Henry A.;
Gondwe, Timothy N.;
Waldmann, Patrik;
Ferenčaković, Maja;
Garcia, José F.;
Rosen, Benjamin D.;
Bickhart, Derek;
van Tassell, Curt P.;
Curik, Ino;
Sölkner, Johann

Publication type:

Article

Genomic selection models for directional dominance: an example for litter size in pigs.

Published in:

Genetics Selection Evolution, 2018, v. 50, p. 1, doi. 10.1186/s12711-018-0374-1

By:

Varona, Luis;
Legarra, Andrés;
Herring, William;
Vitezica, Zulma G.

Publication type:

Article

Genome-wide scan for runs of homozygosity identifies potential candidate genes associated with local adaptation in Valle del Belice sheep.

Published in:

Genetics Selection Evolution, 2017, v. 49, p. 1, doi. 10.1186/s12711-017-0360-z

By:

Mastrangelo, Salvatore;
Tolone, Marco;
Sardina, Maria T.;
Sottile, Gianluca;
Sutera, Anna M.;
Di Gerlando, Rosalia;
Portolano, Baldassare

Publication type:

Article

Characterization and management of long runs of homozygosity in parental nucleus lines and their associated crossbred progeny.

Published in:

Genetics Selection Evolution, 2016, v. 48, p. 1, doi. 10.1186/s12711-016-0269-y

By:

Howard, Jeremy T.;
Tiezzi, Francesco;
Yijian Huang;
Gray, Kent A.;
Maltecca, Christian

Publication type:

Article

Obelisc: an identical-by-descent mapping tool based on SNP streak.

Published in:

Bioinformatics, 2020, v. 36, n. 24, p. 5567, doi. 10.1093/bioinformatics/btaa940

By:

Sonehara, Kyuto;
Okada, Yukinori

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

Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches.

Published in:

BioMedInformatics, 2024, v. 4, n. 4, p. 2374, doi. 10.3390/biomedinformatics4040128

By:

Valente, Susana;
Ribeiro, Mariana;
Schnur, Jennifer;
Alves, Filipe;
Moniz, Nuno;
Seelow, Dominik;
Freixo, João Parente;
Silva, Paulo Filipe;
Oliveira, Jorge

Publication type:

Article

Presence of a genetic association between NRG-3 SNP rs17101193 and schizophrenia.

Published in:

Annals of Medical Research, 2020, v. 27, n. 5, p. 1329, doi. 10.5455/annalsmedres.2020.02.170

By:

Sozen, Mustafa Mert;
Acar, Ceren;
Kartalci, Sukru

Publication type:

Article

الگوی هموزیگوسیتی، هتروزیگوسیتی و همخونی ژنومی در جمعیت گوسفندان حساس و مقاوم به گندیدگی سم

Published in:

Iranian Journal of Animal Science (IJAS), 2025, v. 56, n. 1, p. 35, doi. 10.22059/ijas.2024.372913.654001

By:

فاطمه ابراهیمی;
محسن قلیزاده;
ایوب فرهادی;
کرد دروگمولر

Publication type:

Article

Phenotypic and Molecular Assessment for Genetic Diversity of Egyptian Wheat Varieties.

Published in:

Egyptian Journal of Agronomy, 2020, v. 42, n. 3, p. 291, doi. 10.21608/agro.2020.43465.1231

By:

El-Orabey, Walid M.;
Ahmed, Shaimaa M.;
Hamweih, Aladdin

Publication type:

Article

Lack of Association between the IL-13 C-1112T, G2044A Polymorphisms and Graves' Disease Risk: Evidence from a Meta-analysis.

Published in:

Immunological Investigations, 2014, v. 43, n. 4, p. 337, doi. 10.3109/08820139.2013.879170

By:

Chen, Min-Li;
Liao, Ning;
Zhao, Hua;
Huang, Jian;
Xie, Zheng-Fu

Publication type:

Article

Fitness effects of somatic mutations accumulating during vegetative growth.

Published in:

Evolutionary Ecology, 2022, v. 36, n. 5, p. 767, doi. 10.1007/s10682-022-10188-3

By:

Cruzan, Mitchell B.;
Streisfeld, Matthew A.;
Schwoch, Jaime A.

Publication type:

Article

Impact of rs12917 MGMT Polymorphism on [<sup>18</sup>F]FDG-PET Response in Pediatric Hodgkin Lymphoma (PHL).

Published in:

2019

By:

Kewitz-Hempel, Stefanie;
Kurch, Lars;
Cepelova, Michaela;
Volkmer, Ines;
Sauerbrey, Axel;
Conrad, Elke;
Knirsch, Stephanie;
Pöpperl, Gabriele;
Steinbach, Daniel;
Beer, Ambros J.;
Kramm, Christof M.;
Sahlmann, Carsten-Oliver;
Erdlenbruch, Bernhard;
Reinbold, Wolf-Dieter;
Odparlik, Andreas;
Sabri, Osama;
Kluge, Regine;
Staege, Martin S.

Publication type:

journal article

Large-Scale Genome Scanning within Exonic Regions Revealed the Contributions of Selective Sweep Prone Genes to Host Divergence and Adaptation in Magnaporthe oryzae Species Complex.

Published in:

Microorganisms, 2021, v. 9, n. 3, p. 562, doi. 10.3390/microorganisms9030562

By:

Duan, Guohua;
Bao, Jiandong;
Chen, Xiaomin;
Xie, Jiahui;
Liu, Yuchan;
Chen, Huiquan;
Zheng, Huakun;
Tang, Wei;
Wang, Zonghua;
Reverchon, Sylvie

Publication type:

Article

Genetic Diversity Analysis of Monogerm Cytoplasmic Male Sterile and Maintainer Lines of Sugar Beet.

Published in:

Agronomy, 2024, v. 14, n. 10, p. 2217, doi. 10.3390/agronomy14102217

By:

Chen, Pian;
Chen, Shuyuan;
Pi, Zhi;
Li, Shengnan;
Wu, Zedong

Publication type:

Article

Generation of a Homozygous Transgenic Rat Strain Stably Expressing a Calcium Sensor Protein for Direct Examination of Calcium Signaling.

Published in:

Scientific Reports, 2015, p. 12645, doi. 10.1038/srep12645

By:

Szebényi, Kornélia;
Füredi, András;
Kolacsek, Orsolya;
Pergel, Enikő;
Bősze, Zsuzsanna;
Bender, Balázs;
Vajdovich, Péter;
Tóvári, József;
Homolya, László;
Szakács, Gergely;
Héja, László;
Enyedi, Ágnes;
Sarkadi, Balázs;
Apáti, Ágota;
Orbán, Tamás I.

Publication type:

Article

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

Published in:

Scientific Reports, 2015, p. 12028, doi. 10.1038/srep12028

By:

Imai, Atsuko;
Nakaya, Akihiro;
Fahiminiya, Somayyeh;
Tétreault, Martine;
Majewski, Jacek;
Lathrop, Mark;
Sakata, Yasushi;
Takashima, Seiji;
Ott, Jurg

Publication type:

Article

Pharmacological Chaperones and Coenzyme Q<sub>10</sub> Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.

Published in:

Scientific Reports, 2015, p. 10903, doi. 10.1038/srep10903

By:

de la Mata, Mario;
Cotán, David;
Oropesa-Ávila, Manuel;
Garrido-Maraver, Juan;
Cordero, Mario D.;
Villanueva Paz, Marina;
Delgado Pavón, Ana;
Alcocer-Gómez, Elizabet;
de Lavera, Isabel;
Ybot-González, Patricia;
Paula Zaderenko, Ana;
Ortiz Mellet, Carmen;
Fernández, José M. García;
Sánchez-Alcázar, José A.

Publication type:

Article