Works matching DE "GENETIC testing

Results: 5000

Current paradigm and futuristic vision on new-onset diabetes and pancreatic cancer research.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1543112

By:

Moreland, Russell;
Arredondo, Abigail;
Dhasmana, Anupam;
Dhasmana, Swati;
Shabir, Shabia;
Siddiqua, Asfia;
Banerjee, Bonny;
Yallapu, Murali M.;
Behrman, Stephen W.;
Chauhan, Subhash C.;
Khan, Sheema

Publication type:

Article

Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1541333

By:

Bi, Qingling;
Chen, Zhongyan;
Kang, Baoling;
Lv, Yong;
Yuan, Yongyi;
Liu, Yang;
Liu, Jianfeng;
Li, Yuan

Publication type:

Article

Nationwide implementation and evaluation of the Tumor‐First workflow for genetic testing in ovarian carcinoma.

Published in:

International Journal of Cancer, 2025, v. 157, n. 3, p. 504, doi. 10.1002/ijc.35440

By:

Witjes, Vera M.;
de Hullu, Joanne A.;
Hermkens, Dorien M. A.;
Smolders, Yvonne H. C. M.;
Swillens, Julie E. M.;
Slob, Sarah‐Lotte;
Bosse, Tjalling;
Mourits, Marian J. E.;
Ausems, Margreet G. E. M.;
Ligtenberg, Marjolijn J. L.;
Hoogerbrugge, Nicoline;
Cillessen, Saskia A.G.M.;
Gille, Johan J.P.;
Komdeur, Fenne L.;
Mom, Constantijne H.;
Snijders, Malou L.H.;
Collée, J. Margriet;
Dubbink, Hendrikus J.;
Groenendijk, Floris H.;
Korpershoek, Esther

Publication type:

Article

An update on diagnosis and treatments of childhood interstitial lung diseases.

Published in:

Breathe, 2025, v. 21, n. 2, p. 1, doi. 10.1183/20734735.0004-2025

By:

Marczak, Honorata;
Krenke, Katarzyna;
Griese, Matthias;
Carlens, Julia;
Seidl, Elias;
Gilbert, Carlee;
Emiralioglu, Nagehan;
Torrent-Vernetta, Alba;
Willemse, Brigitte;
Epaud, Ralph;
Delestrain, Celine;
Louvrier, Camille;
Koucky, Václav;
Nathan, Nadia

Publication type:

Article

A non-resolving cough in a 41-year-old woman: a case of familial pulmonary fibrosis.

Published in:

Breathe, 2025, v. 21, n. 2, p. 1, doi. 10.1183/20734735.0258-2024

By:

Carolan, Aoife;
Ozaki, Mari;
Wan Lin Ng;
Ryan, John;
O'Reilly, Michael W.;
Dunne, Ruth;
Fabre, Aurelie;
Nathan, Nadia;
Kannengiesser, Caroline;
Borie, Raphael;
Hurley, Killian

Publication type:

Article

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

Published in:

2025

By:

Zhong, Xue;
Zheng, Xuan;
Xv, Yinglei;
Cai, Kangxi;
Wang, Qianqian;
Liu, Shiguo

Publication type:

Case Study

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

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100039

By:

da Cunha, Gabriela Corassa Rodrigues;
de Souza, Vanessa Sodré;
Zuben, Marcus Von;
Córdoba, Mara Santos;
Ayrimoraes Soares, Mayra Veloso;
Bonadio, Raphael Severino;
de Oliveira, Daniela Mara;
de Oliveira, Silviene Fabiana;
de Mazzeu Araújo, Juliana Forte;
Pic-Taylor, Aline

Publication type:

Article

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100033

By:

Leonardi, R.;
Pellino, G.;
Floridia, E.;
Bianco, M. Lo;
Ruggieri, M.;
Cho, S. Y.;
Pavone, V.;
Pavone, P.;
Polizzi, A.

Publication type:

Article

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100010

By:

Moura Raftopoulos, Karolyne Michele;
Nascimento Chiang, Fernanda Sousa;
de Melo Gama, Lorena;
Farage, Luciano;
Neves Medina, Cristina Touguinha

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

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100004

By:

Kafshboran, Haniyeh Rahbar;
Akcan, Neşe;
Polat, Doğa Ceren;
Ergören, Mahmut Çerkez

Publication type:

Article

Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2025, v. 104, n. 7, p. 1304, doi. 10.1111/aogs.15121

By:

Zhou, Changrong;
Li, Hezhou;
Han, Ruizheng;
Ren, Hongrui;
Shen, Bin;
Wang, Xinxia;
Feng, Fangfang;
Wang, Mengmeng;
Liu, Ling

Publication type:

Article

Astragalus polysaccharide protects against cardiac injury in a tnnt2a mutant zebrafish model of dilated cardiomyopathy.

Published in:

BMC Complementary Medicine & Therapies, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12906-025-04925-8

By:

Zhou, Chang;
Zhao, Hui;
Peng, Longping;
Dong, Yidan;
Wu, Qiong;
Wang, Xu;
Xu, Yingjia;
Wang, Youhua

Publication type:

Article

Testing for differences in polygenic scores in the presence of confounding.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf071

By:

Blanc, Jennifer;
Berg, Jeremy J

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

Testing a Large Number of Composite Null Hypotheses Using Conditionally Symmetric Multidimensional Gaussian Mixtures in Genome-Wide Studies.

Published in:

Journal of the American Statistical Association, 2025, v. 120, n. 550, p. 605, doi. 10.1080/01621459.2024.2422124

By:

Sun, Ryan;
McCaw, Zachary R.;
Lin, Xihong

Publication type:

Article

CLINICAL AND THERAPEUTIC ASSESSMENT OF TREATMENT-RESISTANT DEPRESSION AFTER GENE VARIATION TESTING.

Published in:

Journal of Psychological & Educational Research, 2025, v. 33, n. 1, p. 222

By:

Platona, Rita Ioana;
Voiță-Mekeres, Florica;
Buzlea, Călin David;
Voiță, Ioan Bogdan;
Vîlceanu, Ioana;
Osiceanu, Alina;
Szilagyi, Gheorghe;
Bonțea, Mihaela Gabriela

Publication type:

Article

Siblings With Abnormal Thyroid Function Tests.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 7, p. 1037, doi. 10.1177/00099228241304511

By:

Gornisiewicz, Savanna;
Kessler, Aleeza;
Dayton, Kristin

Publication type:

Article

Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 246, doi. 10.1159/000538483

By:

Wolfsdorf, Joseph I.;
Derks, Terry G.J.;
Drachmann, Danielle;
Shah, Pratik;
Thornton, Paul S.;
Weinstein, David A.

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

Single Cell RNA Sequencing: An Emerging Tool in the Field of Plant Research.

Published in:

South Asian Journal of Experimental Biology, 2025, v. 15, n. 1, p. 9, doi. 10.38150/sajeb.15(1).p9-13

By:

Hazarika, Arijita;
Hazarika, Porismita;
Barukial, Jayanta

Publication type:

Article

Je früher, desto besser.

Published in:

Trillium-Diagnostik, 2025, v. 23, n. 2, p. 80, doi. 10.47184/td.2025.02.02

By:

Gruber, Rudolf

Publication type:

Article

Mutual suppression between mutations in the Dictyostelium Greenbeard pathway restores wild-type development.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11745-0

By:

Katoh-Kurasawa, Mariko;
Trnovec, Lena;
Lehmann, Peter;
Zupan, Blaž;
Shaulsky, Gad

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

Implementation and integration of a multidisciplinary pharmacogenomics service in an underserved integrated behavioral health clinic.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1594032

By:

Alghamdi, Bader M.;
Rogers, Sara;
Roberman, Susan;
Williamson, Meredith;
Panahi, Ladan

Publication type:

Article

A case report of small cell neuroendocrine carcinoma of the ovary and review of the literature.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1569011

By:

Zhao, Ying;
Kang, Fuli;
Kong, Xiangshu;
Wang, Ning

Publication type:

Article

Clinical case of a patient with Vissers-Bodmer syndrome.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 43

By:

Halyna, Lun;
Nataliya, Hrabarchuk;
Tetyana, Lukash

Publication type:

Article

A patient with dysmorphic features and spastic paraparesis of the lower extremities with mutations of GRID2 and SETX genes.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 111

By:

Nyankovska, Yana;
Pyrkosz, Antoni

Publication type:

Article

Atypical Hemolytic Uraemic Syndrome: a case presentation.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 30

By:

Zsidisin, George Nicholas;
Lujinshi, Stefan-Nicolaie

Publication type:

Article

Is systemic lupus erythematosus, with or without lupus nephritis, different syndromes, and can genetics contribute to the answer?

Published in:

2025

By:

Diaz-Gallo, Lina-Marcela;
Gunnarsson, Iva;
Svenungsson, Elisabet

Publication type:

Editorial

VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094

By:

García-Escudero, Paula;
López-Gómez, Marta;
López, Berta Magallares;
Dorta, Alicia García;
Frade-Sosa, Beatriz;
Lizarzaburu, Meritxell Sallés;
Rúa-Figueroa, Íñigo;
Fiallo, Dolly Viviana;
Miera, Francisco Javier Toyos Sáenz de;
Melero-Gonzalez, Rafael Benito;
Santos, Diego Dios;
Miranda, José Alberto;
Belando, Clara García;
Boselli, Giuliano;
Boteanu, Alina Lucica;
Villalobos, Lourdes;
Selaya, Cristina Corrales;
Santos, Cristiana Sieiro;
Álvarez, Elvira Díez;
Font, Judit

Publication type:

Article

A challenging case of limb autoamputation.

Published in:

2025

By:

Aliyev, Emil;
Celep, Ismahan;
Cam, Veysel;
Ozen, Seza;
Sag, Erdal

Publication type:

Case Study

The autophagy protein ATG-9 regulates lysosome function and integrity.

Published in:

Journal of Cell Biology, 2025, v. 224, n. 6, p. 1, doi. 10.1083/jcb.202411092

By:

Kangfu Peng;
Guoxiu Zhao;
Hongyu Zhao;
Noda, Nobuo N.;
Hong Zhang

Publication type:

Article

ORIGINEA ȘI ISTORIA RASEI CIOBĂNESC DE BERNA.

Published in:

Romanian Journal of Veterinary Medicine & Pharmacology, 2025, v. 10, n. 2, p. 118

By:

Cristea (Șulea), Otilia Ruxandra;
Floroiu, Georgiana Gabriela;
Bogdanovici, Alina Elena

Publication type:

Article

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Published in:

BJU International, 2025, v. 135, n. 5, p. 792, doi. 10.1111/bju.16620

By:

Axelsson, Tomas Andri;
Sydén, Filip;
Eisfeldt, Jesper;
Eriksson, Ylva;
Lundberg, Gustav Göthner;
Jaremko, Georg;
Gyllensten, Ollanta Cuba;
Tham, Emma;
Brehmer, Marianne

Publication type:

Article

Primary adrenal insufficiency in patients with CPOX gene mutations.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. K31, doi. 10.1093/ejendo/lvaf089

By:

Kelestemur, Elif;
Yarar, Murat Hakki;
Tosun, Busra Gurpinar;
Karaca, Meryem;
Goler, Ayse Mine Yilmaz;
Yilmaz, Betul Karademir;
Yapici, Ozge;
Gokcay, Gulden;
Guran, Tulay

Publication type:

Article

SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.

Published in:

2025

By:

Kong, Maximilian D.;
Bailey, Johnathan A.;
Exinor, Abdhel;
Piamjitchol, Chanakarn;
Demirkol, Aykut;
Tsang, Stephen H.

Publication type:

Case Study

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

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.

Published in:

2025

By:

Madison, Jacqueline A.;
Ferris, Sean P.;
Kerski, Marianne;
Hile, Grace;
Matossian, Sophia;
Komisar, Cara;
Strouse, Peter J.;
Ames, Elizabeth;
Knierbein, Erin Neil;
Turnier, Jessica L.

Publication type:

Case Study

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1604, doi. 10.1093/brain/awae324

By:

Zheng, Yuxi;
Wang, Panfeng;
Li, Shiqiang;
Long, Yuxi;
Jiang, Yi;
Guo, Dongwei;
Jia, Xiaoyun;
Liu, Mengchu;
Zeng, Yiyan;
Xiao, Xueshan;
Hejtmancik, J Fielding;
Zhang, Qingjiong;
Sun, Wenmin

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

SCN2A gene mutations with epilepsy: single center experience.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02009-4

By:

Zhao, Tong;
Chen, Fang;
Wang, Le;
Xie, Yun;
Yang, Minglei;
Feng, Fan

Publication type:

Article

A tale of A1298C mutation and recurrent pulmonary embolism: a rare association.

Published in:

2024

By:

Vij, Harsh;
Mehdi Rizvi, Syed Haider

Publication type:

Case Study

A rising tide lifts all boats in the personalized cancer care continuum for mNSCLC: bridging inequities in NGS fosters equity in targeted treatment.

Published in:

Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf067

By:

Lin, Victor T G;
Ma, Esprit;
Jain, Neha;
Xia, Zhiyu;
Sheinson, Danny;
Yu, Elaine;
Daniel, Davey;
Huang, Richard S P;
Vidal, Gregory;
Martin, Richard Lewis;
Zuniga, Richard;
Stricker, Thomas

Publication type:

Article

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.

Published in:

2025

By:

Pîrlog, Lorin-Manuel;
Pătrășcanu, Andrada-Adelaida;
Kutasi, Eniko;
Iordănescu, Irina;
Militaru, Mariela Sanda

Publication type:

Case Study

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study.

Published in:

Oncology & Therapy, 2025, v. 13, n. 2, p. 363, doi. 10.1007/s40487-025-00332-8

By:

Morganti, Stefania;
Khan, Rabia A.;
Berrocal-Almanza, Luis C.;
Miranda, Miguel;
Luo, Linlin;
Xu, Xiaoqing;
Partridge, Ann H.;
Lynce, Filipa

Publication type:

Article

An Exploration Into the Impact of the BRCA 1 and 2 Genetic Mutations Diagnosis on Women's Perceptions of Motherhood: A Thematic Analysis.

Published in:

Women's Reproductive Health, 2025, v. 12, n. 2, p. 507, doi. 10.1080/23293691.2025.2479489

By:

Lidstone, Rebecca;
Stubbings, Daniel R.;
McKnight, Christine

Publication type:

Article