Works about HOMOZYGOSITY

Results: 1466

Genomic and health characteristics of crossbred dairy cattle in central Uganda.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1567910

By:

Sanchez-Molano, Enrique;
Mukiibi, Robert;
Riggio, Valentina;
Ogwang, Joel;
Kawule, Leonard;
Benda, Katali;
Beine, Peter;
de Clare Bronsvoort, Barend M.;
Prendergast, James;
Doeschl-Wilson, Andrea B.;
Muwonge, Adrian

Publication type:

Article

Purging of Highly Deleterious Mutations Through an Extreme Bottleneck.

Published in:

Molecular Biology & Evolution, 2025, v. 42, n. 4, p. 1, doi. 10.1093/molbev/msaf079

By:

Stuart, Oliver P;
Cleave, Rohan;
Pearce, Kate;
Magrath, Michael J L;
Mikheyev, Alexander S

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

Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.

Published in:

Acta Diabetologica, 2020, v. 57, n. 1, p. 81, doi. 10.1007/s00592-019-01381-y

By:

Pourreza, Mohammad Reza;
Sobhani, Maryam;
Rahimi, Azadeh;
Aramideh, Mehdi;
Kajbafzadeh, Abdol-Mohammad;
Noori-Daloii, Mohammad Reza;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00031-4

By:

Esson, Gavin;
Logan, Ian;
Wood, Katrina;
Browning, Andrew C.;
Sayer, John A.

Publication type:

Article

Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma.

Published in:

Bulletin of Experimental Biology & Medicine, 2023, v. 175, n. 3, p. 399, doi. 10.1007/s10517-023-05875-2

By:

Mukhana, L.;
Aissa, A. Ait;
Ahmed, A. A. M.;
Saakyan, S. V.;
Tsygankov, A. Yu.;
Blagonravov, M. L.;
Azova, M. M.

Publication type:

Article

Progression of retinal changes in Gaucher disease: a case report.

Published in:

Eye (0950-222X), 2013, v. 27, n. 11, p. 1331, doi. 10.1038/eye.2013.180

By:

Coussa, R G;
Roos, J C P;
Aroichane, M;
Miron, M-C;
Ospina, L H

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

Analysis of Meat Mineral Content in Cemani Chicken with Homozygous (Fm/Fm) and Heterozygous (Fm/fm<sup>+</sup>) Genotypes.

Published in:

Indonesian Journal of Animal & Veterinary Sciences / Jurnal Ilmu Ternak dan Veteriner, 2022, v. 27, n. 4, p. 195, doi. 10.14334/jitv.v27i4.3075

By:

Safitry R. S.;
Dharmayanthi A. B.;
Kinoshita K.;
Akiyama T.;
Darwati S.;
Kostaman T.;
Sopiyana S.;
Khaerunnisa I.;
Sumantii C.

Publication type:

Article

Strategies for whole-exome sequencing analysis in a case series study of familial male infertility.

Published in:

International Journal of Reproductive Biomedicine, 2020, v. 18, n. 5, p. 375, doi. 10.18502/ijrm.v13i5.7158

By:

Askari, Masomeh;
Tamandani, Dor Mohammad Kordi;
Almadani, Navid;
Totonchi, Mehdi

Publication type:

Article

Association of microsatellite markers on bovine chromosomes 5 and 6 with carcass traits.

Published in:

Journal of Animal Science, 2006, v. 84, p. 447

By:

Sanborn, A. M.;
Casas, E.;
Rosa, A. J. M.

Publication type:

Article

Quantifying the impact of multiple independent heterozygous loci on survival.

Published in:

Journal of Animal Science, 2006, v. 84, p. 274

By:

Adams, H. A.;
Shanks, R. D.

Publication type:

Article

The callipyge phenomenon: evidence for unusual genetic inheritance1.

Published in:: Journal of Animal Science, 1999, v. 77, p. 221, doi. 10.2527/1999.77suppl_2221x
Publication type:: Article

Measures of care fragmentation: Mathematical insights from population genetics.

Published in:

2020

By:

Rosenberg, Noah A.;
Zulman, Donna M.

Publication type:

journal 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

Whole genomes from the extinct Xerces Blue butterfly can help identify declining insect species.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.87928

By:

de-Dios, Toni;
Fontsere, Claudia;
Renom, Pere;
Stiller, Josefin;
Llovera, Laia;
Uliano-Silva, Marcela;
Sánchez-Gracia, Alejandro;
Lizano, Esther;
Caballero, Berta;
Navarro, Arcadi;
Civit, Sergi;
Robbins, Robert K.;
Blaxter, Mark;
Marquès, Tomàs;
Vila, Roger;
Lalueza-Fox, Carles

Publication type:

Article

Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.816981

By:

Naseri, Ardalan;
Degui Zhi;
Shaojie Zhang

Publication type:

Article

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 8, p. 1, doi. 10.1002/mgg3.2507

By:

Yan, Lulu;
Ding, Shuxia;
He, Yan;
Fu, Bin;
Chen, Changshui;
Li, Haibo

Publication type:

Article

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2162

By:

Wu, Tenghui;
Zhang, Ciliu;
He, Fang;
Yang, Li;
Yin, Fei;
Peng, Jing

Publication type:

Article

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2168

By:

Jamshidi, Fereshteh;
Shokouhian, Ebrahim;
Mohseni, Marzieh;
Kahrizi, Kimia;
Najmabadi, Hossein;
Babanejad, Mojgan

Publication type:

Article

Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2131

By:

Elahi, Zohreh;
Soveyzi, Mohamad;
Nafissi, Shahriar;
Nilipour, Yalda;
Goleyjani Moghadam, Masoumeh;
Keshavarz, Elham;
Kariminejad, Ariana;
Najmabadi, Hossein;
Fattahi, Zohreh

Publication type:

Article

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Published in:

2021

By:

Acharya, Tanvi;
Firth, Helen V.;
Dugar, Shilpa;
Grammatikopoulos, Tassos;
Seabra, Luis;
Walters, Angharad;
Crow, Yanick J.;
Parker, Alasdair P. J.

Publication type:

Case Study

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1792

By:

Wang, Lei;
Liu, Pengfei;
Bi, Weimin;
Sim, Teresa;
Wang, Xia;
Walkiewicz, Magdalene;
Leduc, Magalie Sophie;
Meng, Linyan;
Xia, Fan;
Eng, Christine M.;
Yang, Yaping;
Yuan, Bo;
Dai, Hongzheng

Publication type:

Article

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1478

By:

Guo, Liyuan;
Jin, Bo;
Zhang, Yidan;
Wang, Jing

Publication type:

Article

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1314

By:

Li, Quan-Fu;
Cheng, Hao‐Ling;
Yang, Lu;
Ma, Yin;
Zhao, Jing‐Jing;
Dong, Yi;
Wu, Zhi‐Ying

Publication type:

Article

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1173

By:

Gregersen, Pernille A.;
McKay, Victoria;
Walsh, Maie;
Brown, Erica;
McGillivray, George;
Savarirayan, Ravi

Publication type:

Article

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1064

By:

Pezzani, Lidia;
Pezzoli, Laura;
Pansa, Alessandra;
Facchinetti, Barbara;
Marchetti, Daniela;
Scatigno, Agnese;
Lincesso, Anna R.;
Perego, Loredana;
Pingue, Monica;
Pellicioli, Isabella;
Migliazza, Lucia;
Mangili, Giovanna;
Galletti, Lorenzo;
Giussani, Ursula;
Bonanomi, Ezio;
Cereda, Anna;
Iascone, Maria

Publication type:

Article

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1081

By:

Yohe, Sophia;
Sivasankar, Malaichamy;
Ghosh, Anuprita;
Ghosh, Arkasubhra;
Holle, Jennifer;
Murugan, Sakthivel;
Gupta, Ravi;
Schimmenti, Lisa A.;
Vedam, Ramprasad;
Thyagarajan, Bharat

Publication type:

Article

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1060

By:

Ali, Muhammad Z.;
Blatterer, Jasmin;
Khan, Muzammil A.;
Schaflinger, Erich;
Petek, Erwin;
Ahmad, Safeer;
Khan, Ejazullah;
Windpassinger, Christian

Publication type:

Article

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1007

By:

Wong, Karen H.Y.;
Levy‐Sakin, Michal;
Ma, Walfred;
Gonzaludo, Nina;
Mak, Angel C.Y.;
Vaka, Dedeepya;
Poon, Annie;
Chu, Catherine;
Lao, Richard;
Balamir, Melek;
Grenville, Zoe;
Wong, Nicolas;
Kane, John P.;
Kwok, Pui‐Yan;
Malloy, Mary J.;
Pullinger, Clive R.

Publication type:

Article

Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.975

By:

Saeidian, Amir Hossein;
Vahidnezhad, Hassan;
Youssefian, Leila;
Sotudeh, Soheila;
Sargazi, Meisam;
Zeinali, Sirous;
Uitto, Jouni

Publication type:

Article

A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.923

By:

Li, Juanjuan;
Li, Junhui;
Li, Jianguo;
Yao, Hailan;
Liu, Fang;
Gusella, James F;
Shi, Xiaodong;
Chen, Xiaoli

Publication type:

Article

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.946

By:

Manor, Esther;
Gonen, Raphael;
Sarussi, Benjamin;
Keidar‐Friedman, Danielle;
Kumar, Jay;
Tang, Hiu‐Tung;
Tassone, Flora

Publication type:

Article

Evolutionary history of disease‐susceptibility loci identified in longitudinal exome‐wide association studies.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.925

By:

Yasukochi, Yoshiki;
Sakuma, Jun;
Takeuchi, Ichiro;
Kato, Kimihiko;
Oguri, Mitsutoshi;
Fujimaki, Tetsuo;
Horibe, Hideki;
Yamada, Yoshiji

Publication type:

Article

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 280, doi. 10.1002/mgg3.285

By:

Bis, Dana M.;
Schüle, Rebecca;
Reichbauer, Jennifer;
Synofzik, Matthis;
Rattay, Tim W.;
Soehn, Anne;
Jonghe, Peter;
Schöls, Ludger;
Züchner, Stephan

Publication type:

Article

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 521, doi. 10.1002/mgg3.227

By:

Abdelhadi, Ola;
Iancu, Daniela;
Tekman, Mehmet;
Stanescu, Horia;
Bockenhauer, Detlef;
Kleta, Robert

Publication type:

Article

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 2, p. 160, doi. 10.1002/mgg3.190

By:

Kassab, Kameel;
Hariri, Hadla;
Gharibeh, Lara;
Fahed, Akl C.;
Zein, Manal;
El‐Rassy, Inaam;
Nemer, Mona;
El‐Rassi, Issam;
Bitar, Fadi;
Nemer, Georges

Publication type:

Article

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population.

Published in:

Experimental Dermatology, 2021, v. 30, n. 9, p. 1290, doi. 10.1111/exd.14345

By:

Mohamad, Janan;
Samuelov, Liat;
Malchin, Natalia;
Rabinowitz, Tom;
Assaf, Sari;
Malki, Liron;
Malovitski, Kiril;
Israeli, Shirli;
Grafi‐Cohen, Meital;
Bitterman‐Deutsch, Ora;
Molho‐Pessach, Vered;
Cohen‐Barak, Eran;
Bach, Gideon;
Garty, Ben Zion;
Bergman, Reuven;
Harel, Avikam;
Nanda, Arti;
Lestringant, Giles G.;
McGrath, John;
Shalev, Stavit

Publication type:

Article

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.

Published in:

Experimental Dermatology, 2014, v. 23, n. 1, p. 60, doi. 10.1111/exd.12292

By:

Ishida‐Yamamoto, Akemi;
Furio, Laetitia;
Igawa, Satomi;
Honma, Masaru;
Tron, Elodie;
Malan, Valerie;
Murakami, Masamoto;
Hovnanian, Alain

Publication type:

Article

Symptom profiles and illness course among Anabaptist and Non-Anabaptist adults with major mood disorders.

Published in:

International Journal of Bipolar Disorders, 2016, v. 4, n. 1, p. 1, doi. 10.1186/s40345-016-0062-4

By:

Gill, Kelly;
Cardenas, Stephanie;
Kassem, Layla;
Schulze, Thomas;
McMahon, Francis

Publication type:

Article

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4

By:

Lehtonen, Johanna;
Sulonen, Anna-Maija;
Almusa, Henrikki;
Lehtokari, Vilma-Lotta;
Johari, Mridul;
Palva, Aino;
Hakonen, Anna H.;
Wartiovaara, Kirmo;
Lehesjoki, Anna-Elina;
Udd, Bjarne;
Wallgren-Pettersson, Carina;
Pelin, Katarina;
Savarese, Marco;
Saarela, Janna

Publication type:

Article

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54385-2

By:

Chaves, Tiago Fernando;
Ocampos, Maristela;
Barbato, Ingrid Tremel;
de Camargo Pinto, Louise Lapagesse;
de Luca, Gisele Rozone;
Barbato Filho, Jorge Humberto;
Bernardi, Priscila;
Costa Netto Muniz, Yara;
Francesca Maris, Angelica

Publication type:

Article

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-023-50584-5

By:

Li, Mengmeng;
Hao, Na;
Jiang, Yulin;
Xue, Huili;
Dai, Yifang;
Wang, Mingming;
Bai, Junjie;
Lv, Yan;
Qi, Qingwei;
Zhou, Xiya

Publication type:

Article

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6

By:

Sanga, Shamita;
Chakraborty, Sudipta;
Bardhan, Mainak;
Polavarapu, Kiran;
Kumar, Veeramani Preethish;
Bhattacharya, Chandrika;
Nashi, Saraswati;
Vengalil, Seena;
Geetha, Thenral S.;
Ramprasad, Vedam;
Nalini, Atchayaram;
Basu, Analabha;
Acharya, Moulinath

Publication type:

Article

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6

By:

Sanga, Shamita;
Chakraborty, Sudipta;
Bardhan, Mainak;
Polavarapu, Kiran;
Kumar, Veeramani Preethish;
Bhattacharya, Chandrika;
Nashi, Saraswati;
Vengalil, Seena;
Geetha, Thenral S.;
Ramprasad, Vedam;
Nalini, Atchayaram;
Basu, Analabha;
Acharya, Moulinath

Publication type:

Article