Works matching DE "DELETION mutation"

Results: 4154

Deletion and Copy Number Variation of Y-Chromosomal Regions in Coho Salmon, Chum Salmon, and Pink Salmon Populations.

Published in:

Transactions of the American Fisheries Society, 2017, v. 146, n. 2, p. 240, doi. 10.1080/00028487.2016.1254113

By:

Muttray, A. F.;
Sakhrani, D.;
Smith, J. L.;
Nakayama, I.;
Davidson, W. S.;
Park, L.;
Devlin, R. H.

Publication type:

Article

Signet-ring plasma cell lymphoplasmacytic lymphoma: a rare twist.

Published in:

Annales de Biologie Clinique, 2025, v. 83, n. 3, p. 327, doi. 10.1684/abc.2025.1977

By:

Chiriac, Radu;
Pourchet, Valentin;
Baseggio, Lucile

Publication type:

Article

The TESTBREAST journey: Revisiting the importance of early detection by frequent screening of women at high risk of breast cancer.

Published in:

International Journal of Cancer, 2025, v. 157, n. 4, p. 741, doi. 10.1002/ijc.35444

By:

Andour, Layla;
Hagenaars, Sophie C.;
Vangangelt, Kiki;
Aalberts, Janneke;
Rebattu, Valerie;
van der Meer, Dorien M. A. Berends;
Kranenbarg, Elma Meershoek‐Klein;
Gaarenstroom, Katja N.;
van Asperen, Christi J.;
Tollenaar, Rob A. E. M.;
Mesker, Wilma E.;
Aalberts, J.;
der Meer, T. M. A. Berends‐van;
Hagenaars, S. C.;
Andour, L.;
Mesker, W.E.;
Tollenaar, R. A. E. M;
Kranenbarg, W. M. Meershoek‐Klein;
Gaarenstroom, K. N.;
Haekens, C. M. R.

Publication type:

Article

Clinical phenotypic spectrum of NRXN1 microdeletions and their association with epilepsy: A systematic review and meta‐analysis.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2022, doi. 10.1111/epi.18337

By:

Guo, Xintong;
Wang, Chengzhe;
Long, Dingju;
Zhang, Heyu;
Yin, Sijing;
Peng, Xinxin;
Liu, Yicong;
Chen, Siqing;
Liu, Yue;
Huang, Wenyao;
Zhang, Jinming;
Chen, Jingjing;
Ni, Guanzhong;
Chen, Ziyi

Publication type:

Article

Prognostic impact of somatic mutations and additional chromosomal abnormalities in patients with myelodysplastic syndromes and chromosome 20q deletion.

Published in:

Clinical & Experimental Medicine, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10238-025-01742-8

By:

Huang, Xinhui;
Li, Xiao;
Liu, Qi;
Guo, Juan;
Chen, Jianan;
Zhou, Liyu;
Song, Luxi;
Zhang, Zheng;
Su, Jiying;
Zhang, Yumei;
Yan, Meng;
He, Qi;
Wu, Dong;
Xu, Feng;
Chang, Chunkang;
Wu, Lingyun

Publication type:

Article

Genomic signatures associated with recurrent scale loss in cyprinid fish.

Published in:

Integrative Zoology, 2025, v. 20, n. 3, p. 535, doi. 10.1111/1749-4877.12851

By:

DING, Yongli;
ZOU, Ming;
GUO, Baocheng

Publication type:

Article

Deletion of ttrA and pduA genes in Salmonella enterica serovars induce a comparable immune response to wild-type infection in different chicken lineages.

Published in:

Avian Pathology, 2025, v. 54, n. 4, p. 464, doi. 10.1080/03079457.2025.2457095

By:

de Lima, Túlio Spina;
Souza Saraiva, Mauro de Mesquita;
de Almeida, Adriana Maria;
Ferreira, Taisa Santiago;
Rodrigues Alves, Lucas Bocchini;
Ferreira, Viviane Amorim;
de Freitas Neto, Oliveiro Caetano;
Barrow, Paul Andrew;
Berchieri Junior, Angelo

Publication type:

Article

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 663, doi. 10.1111/cge.14685

By:

Silva, Sebastián;
Venegas, Viviana;
Valenzuela, Marcela;
Retamales‐Moreno, Álvaro;
Muñoz‐Castro, Carolina;
Acevedo, Hernán;
Marengo, Juan‐José;
Okubo, Mariko;
Takada, Sanami;
Miyake, Noriko

Publication type:

Article

Cryptic absence and genetic variation of Plasmodium falciparum PfHRP2 and PfHRP3 from isolates in Papua, Indonesia.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-02834-x

By:

Puspitasari, Agatha Mia;
Sutanto, Edwin;
Syauqi, Khilal;
Amalia, Ristya;
Nisa, Fahira Ainun;
Trianty, Leily;
Sidhartha, Elizabeth;
Kenangalem, Enny;
Poespoprodjo, Jeanne Rini;
Ahmed, Rukhsana;
Owusu, Ewurama;
Carlier, Lise;
Tetteh, Kevin K. A.;
Cheng, Qin;
Noviyanti, Rintis

Publication type:

Article

An atypical finding of Muir-Torre syndrome: A case report.

Published in:

European Journal of Medical Case Reports, 2025, v. 9, n. 4, p. 94, doi. 10.24911/ejmcr.9-2071

By:

Rivera Troia, Felix;
Diez Asad, Lara;
Oronoz Alcover, Mario;
Sanchez-Cordero, Milaris;
Ocasio Villa, Fernando

Publication type:

Article

Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway.

Published in:

Frontiers in Behavioral Neuroscience, 2025, p. 1, doi. 10.3389/fnbeh.2025.1551440

By:

Cai, Hui;
Zhang, Chengping;
Zhang, Haonan;
Du, Yong;
Wang, Kai

Publication type:

Article

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1595298

By:

Krutish, Angela;
Kukurudz-Gorowski, Rebekah;
Borlot, Felippe;
Frosk, Patrick;
Rockman-Greenberg, Cheryl;
Mhanni, Aizeddin A.

Publication type:

Article

Establishment of the CRISPR-Cpf1 gene editing system in Bacillus licheniformis and multiplexed gene knockout.

Published in:

Synthetic & Systems Biotechnology, 2025, v. 10, n. 1, p. 39, doi. 10.1016/j.synbio.2024.08.002

By:

Suxin Liu;
Fengxu Xiao;
Youran Li;
Yupeng Zhang;
Yanling Wang

Publication type:

Article

LIFR-Mediated ERBB2 Signaling Is Essential for Successful Embryo Implantation in Mice.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 698, doi. 10.3390/biom15050698

By:

Terakawa, Jumpei;
Nakamura, Sakura;
Ohtomo, Mana;
Uehara, Saki;
Kawata, Yui;
Takarabe, Shunsuke;
Sugita, Hibiki;
Namiki, Takafumi;
Kageyama, Atsuko;
Noguchi, Michiko;
Murakami, Hironobu;
Kashiwazaki, Naomi;
Ito, Junya

Publication type:

Article

Prevalence of Plasmodium falciparum parasites with pfhrp2 exon 2 gene deletion in symptomatic malaria patients across Ghana in 2021.

Published in:

Malaria Journal, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12936-025-05419-1

By:

Bredu, Dorcas G.;
Asamoah, Alexander;
Adu, George A.;
Abban, Bernice C.;
Anang, Sherik-fa;
Peprah, Nana Y.;
Tey, Prosper K.;
Kwapong, Sebastian S.;
Chamai, Martin;
Amoako, Eunice O.;
Abuaku, Benjamin;
Amoah, Linda E.;
Malm, Keziah L.

Publication type:

Article

Calcium-dependent protein kinases 2A involved in the growth of both asexual and sexual stages of Cryptosporidium parvum.

Published in:

PLoS Neglected Tropical Diseases, 2025, v. 19, n. 5, p. 1, doi. 10.1371/journal.pntd.0013107

By:

Shu, Fanfan;
Huang, Yujin;
Yang, Fuxian;
Guo, Yaqiong;
Xu, Rui;
Xiao, Lihua;
Feng, Yaoyu;
Li, Na

Publication type:

Article

Deletion of the HLA‐B Gene in One of the Inherited Haplotypes in a Northern European Family.

Published in:

HLA: Immune Response Genetics, 2025, v. 105, n. 5, p. 1, doi. 10.1111/tan.70234

By:

Grünebach, Frank;
Haack, Tobias B.;
Döring, Michaela;
Merz, Britta;
Petz, Antje;
Bauer, Christine;
Storz, Martina;
Lang, Peter;
Klein, Reinhild

Publication type:

Article

Comparative Mitochondrial Genomic and Phylogenetic Study of Eight Species of the Family Lonchodidae (Phasmatodea: Euphasmatodea).

Published in:

Genes, 2025, v. 16, n. 5, p. 565, doi. 10.3390/genes16050565

By:

Luo, Ting;
Zhang, Qianwen;
Pang, Siyu;
Qin, Yanting;
Zhang, Bin;
Bian, Xun

Publication type:

Article

SMARCA4 基因缺失的卵巢恶性肿瘤一例.

Published in:

Journal of International Obstetrics & Gynecology, 2024, v. 51, n. 5, p. 584, doi. 10.12280/gjfckx.20240286

By:

陈治伟;
柳林

Publication type:

Article

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M

By:

Maksić, Jasmina;
Maksimović, Nela;
Rasulić, Lukas;
Milankov, Olgica;
Marjanović, Ana;
Cvetković, Dragana;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 4, p. 387, doi. 10.2298/VSP180226089M

By:

Maksić, Jasmina;
Dobričić, Valerija;
Rasulić, Lukas;
Maksimović, Nela;
Branković, Marija;
Rašić, Vedrana Milić;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria – A Retrospective Cohort Study.

Published in:

Neurology India, 2024, v. 72, n. 6, p. 1174, doi. 10.4103/ni.ni_744_22

By:

Rekha, A;
Sanoop, A.V Muhammed;
Das, Sweta;
Chapla, Aaron;
Srinageshwari, Bhairavi;
Barney, Anitha;
Arunachalam, Gautham;
Mohan, Sony;
Danda, Sumita

Publication type:

Article

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 12, p. 3337, doi. 10.1007/s10815-024-03260-0

By:

Liu, Zhenxing;
Zhu, Lixia;
He, Hui;
Hou, Meiqi;
Jia, Weimin;
Jin, Lei;
Xi, Qingsong;
Zhang, Xianqin

Publication type:

Article

A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 471, doi. 10.1007/s10815-019-01685-6

By:

Milunsky, Aubrey;
Milunsky, Jeff M.;
Dong, Weilai;
Hovhannisyan, Hayk;
Oates, Robert D.

Publication type:

Article

A new mutation identified in SPATA16 in two globozoospermic patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 6, p. 815, doi. 10.1007/s10815-016-0715-3

By:

ElInati, Elias;
Fossard, Camille;
Okutman, Ozlem;
Ghédir, Houda;
Ibala-Romdhane, Samira;
Ray, Pierre;
Saad, Ali;
Hennebicq, Sylvianne;
Viville, Stéphane

Publication type:

Article

The −2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortion.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 12, p. 1789, doi. 10.1007/s10815-015-0593-0

By:

Pereza, Nina;
Ostojić, Saša;
Smirčić, Anamarija;
Hodžić, Alenka;
Kapović, Miljenko;
Peterlin, Borut

Publication type:

Article

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 9, p. 1333, doi. 10.1007/s10815-015-0520-4

By:

Sen, S.;
Ambulkar, P.;
Hinduja, I.;
Zaveri, K.;
Gokral, J.;
Pal, A.;
Modi, D.

Publication type:

Article

The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 5, p. 807, doi. 10.1007/s10815-015-0443-0

By:

Khosronezhad, Nahid;
Hosseinzadeh Colagar, Abasalt;
Mortazavi, Seyed

Publication type:

Article

Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 12, p. 1719, doi. 10.1007/s10815-014-0355-4

By:

Wang, Qingxue;
Chow, Judy;
Yeung, William;
Lau, Estella;
Lee, Vivian;
Ng, Ernest;
Ho, Pak-Chung

Publication type:

Article

A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 5, p. 613, doi. 10.1007/s10815-014-0204-5

By:

Zheng, Hong-Yun;
Li, Yan;
Shen, Fu-Jin;
Tong, Yong-Qing

Publication type:

Article

Relationship between HLA-G polymorphism and susceptibility to recurrent miscarriage: A meta-analysis of non-family-based studies.

Published in:

Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 2, p. 173, doi. 10.1007/s10815-013-0155-2

By:

Fan, Wei;
Li, Shangwei;
Huang, Zhongying;
Chen, Qiong

Publication type:

Article

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 6, p. 813, doi. 10.1007/s10815-013-0009-y

By:

Liu, Xiao-hong;
Qiao, Jie;
Li, Rong;
Yan, Li-ying;
Chen, Li-xue

Publication type:

Article

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case-control study.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 4, p. 531, doi. 10.1007/s10815-013-9950-z

By:

Lardone, María;
Marengo, Altinay;
Parada-Bustamante, Alexis;
Cifuentes, Lucía;
Piottante, Antonio;
Ebensperger, Mauricio;
Valdevenito, Raúl;
Castro, Andrea

Publication type:

Article

Angiotensin-converting enzyme insertion/deletion (I/D) polymorphisms and recurrent pregnancy loss: a meta-analysis.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 11, p. 1167, doi. 10.1007/s10815-012-9870-3

By:

Yang, Chen;
Fangfang, Wu;
Jie, Li;
Yanlong, Yang;
Jie, Wang;
Xuefei, Liang;
Xuerong, Zhang;
Yanling, Hu

Publication type:

Article

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 8, p. 829, doi. 10.1007/s10815-012-9783-1

By:

Li, Dingyang;
Zhang, Hongguo;
Wang, Ruixue;
Zhu, Haibo;
Li, Linlin;
Liu, Ruizhi

Publication type:

Article

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 8, p. 847, doi. 10.1007/s10815-012-9798-7

By:

Totonchi, Mehdi;
Mohseni Meybodi, Anahita;
Borjian Boroujeni, Parnaz;
Sedighi Gilani, Mohammad;
Almadani, Navid;
Gourabi, Hamid

Publication type:

Article

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 6, p. 521, doi. 10.1007/s10815-012-9741-y

By:

Fu, Li;
Xiong, Da-Ke;
Ding, Xian-Ping;
Li, Chuang;
Zhang, Li-Yuan;
Ding, Min;
Nie, Shuang-Shuang;
Quan, Qiang

Publication type:

Article

Comments on the AZFc markers used for screening of Yq microdeletions.

Published in:

2012

By:

Saliminejad, Kioomars;
Khorram Khorshid, Hamid

Publication type:

Letter

Evaluation of the role of EGFR exon 19 747–750 deletion mutation and plasma amino acid profile in the development of lung cancer.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09941-4

By:

Saleem, Tahia H.;
Elkhayat, Hussein;
Farouk, Ahmed;
Gabra, Fify Alfy;
Omar, Esraa A.;
Kamel, Amira A.

Publication type:

Article

SETDB1 deletion causes DNA demethylation and upregulation of multiple zinc-finger genes.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09703-2

By:

Kang, Yong-Kook;
Eom, Jaemin;
Min, Byungkuk;
Park, Jung Sun

Publication type:

Article

Fulvia fulva [syn. Cladosporium fulvum, Passalora fulva] races in Argentina are evolving through genetic changes and carry polymorphic avr and ecp gene sequences.

Published in:

European Journal of Plant Pathology, 2021, v. 159, n. 3, p. 525, doi. 10.1007/s10658-020-02181-9

By:

Lucentini, César G.;
Medina, Roció;
Franco, Mario E. E.;
Saparrat, Mario C. N.;
Balatti, Pedro A.

Publication type:

Article

Human centromere repositioning within euchromatin after partial chromosome deletion.

Published in:

Chromosome Research, 2016, v. 24, n. 4, p. 451, doi. 10.1007/s10577-016-9536-6

By:

Sullivan, Lori;
Maloney, Kristin;
Towers, Aaron;
Gregory, Simon;
Sullivan, Beth

Publication type:

Article

Directional genomic hybridization for chromosomal inversion discovery and detection.

Published in:

Chromosome Research, 2013, v. 21, n. 2, p. 165, doi. 10.1007/s10577-013-9345-0

By:

Ray, F.;
Zimmerman, Erin;
Robinson, Bruce;
Cornforth, Michael;
Bedford, Joel;
Goodwin, Edwin;
Bailey, Susan

Publication type:

Article

The C-terminal domain of the ferric uptake regulator (Fur) binds a [2Fe–2S] cluster to sense the intracellular free iron content in Escherichia coli.

Published in:

BioMetals, 2023, v. 36, n. 6, p. 1285, doi. 10.1007/s10534-023-00517-6

By:

Fontenot, Chelsey R.;
Ding, Huangen

Publication type:

Article

Sudden infant death syndrome: deletions of glutathione-S-transferase genes M1 and T1 and tobacco smoke exposure.

Published in:

International Journal of Legal Medicine, 2021, v. 135, n. 4, p. 1375, doi. 10.1007/s00414-021-02556-5

By:

Mawick, Anthea;
Pfeiffer, Heidi;
Vennemann, Marielle

Publication type:

Article

Population genetic analysis of 30 insertion–deletion (INDEL) loci in a Qinghai Tibetan group using the Investigator DIPplex Kit.

Published in:

International Journal of Legal Medicine, 2019, v. 133, n. 4, p. 1039, doi. 10.1007/s00414-018-1954-x

By:

Jian, Hui;
Liang, Weibo;
Wang, Li;
Wang, Hui;
Bai, Xiaogang;
Lv, Meili

Publication type:

Article

Forensic parameters of the Investigator DIPplex kit (Qiagen) in six Mexican populations.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 683, doi. 10.1007/s00414-015-1242-y

By:

Martínez-Cortés, G.;
García-Aceves, M.;
Favela-Mendoza, A.;
Muñoz-Valle, J.;
Velarde-Felix, J.;
Rangel-Villalobos, H.

Publication type:

Article

Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 5, p. 713, doi. 10.1007/s00414-012-0720-8

By:

Ma, Yan;
Kuang, Jin-Zhi;
Zhang, Ji;
Wang, Gui-Min;
Wang, Yu-Jian;
Jin, Wei-Min;
Hou, Yi-Ping

Publication type:

Article

Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population.

Published in:

International Journal of Legal Medicine, 2012, v. 126, n. 4, p. 513, doi. 10.1007/s00414-011-0594-1

By:

Ou, Xueling;
Chen, Wenjing;
Chen, Hua;
Zhao, Fengcang;
Zheng, Jianwen;
Tong, Dayue;
Chen, Yong;
Chen, Aiping;
Sun, Hongyu

Publication type:

Article

Thrombin receptor PAR4 drives canonical NLRP3 inflammasome signaling in the heart.

Published in:

Basic Research in Cardiology, 2020, v. 115, n. 2, p. 1, doi. 10.1007/s00395-019-0771-9

By:

Fender, Anke C.;
Kleeschulte, Sonja;
Stolte, Svenja;
Leineweber, Katja;
Kamler, Markus;
Bode, Johannes;
Li, Na;
Dobrev, Dobromir

Publication type:

Article