Works matching DE "GENETIC testing

Results: 5000

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

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

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

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

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

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

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

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

News Focus.

Published in:: Practice Nursing, 2025, v. 36, n. 6, p. 186, doi. 10.12968/pnur.2025.0018
Publication type:: Article

A novel PNP variant causes lymphopenia, hypouricemia and neurological deficit.

Published in:

Paediatrica Indonesiana, 2025, v. 65, n. 2, p. 171, doi. 10.14238/pi65.2.2025.171-8

By:

Abd Hamid, Intan Juliana;
Bee Chin Chen;
Huey Yin Leong;
Yusnita Yakob;
Abd Azize, Nor Azimah;
Mohd Khalid, Mohd Khairul Nizam;
Gaik Siew Ch'ng;
Wee Teik Keng;
Lock Hock Ngu

Publication type:

Article

Multidisciplinary Approach and Neurocognitive Outcomes in a Child with Becker Muscular Dystrophy.

Published in:

Indian Practitioner, 2025, v. 78, n. 5, p. 21

By:

Hishobkar, Tejasvi Sunil;
Sookhadwala, Hilla;
Tiwari, Lekha;
Khan, Shagufta;
Dalwai, Samir H.

Publication type:

Article

Head and neck pits in an infant.

Published in:

Australian Journal of General Practice, 2025, v. 54, n. `6, p. 375

By:

Lim, Jean-Li

Publication type:

Article

Barriers to cascade screening and prenatal testing in families with genetic haematological diseases.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00083-0

By:

Pandharipande, Archit;
Radhakrishnan, Nita;
Verma, Shruti;
Chauhan, Vivek Kumar;
Baby, Eby P.;
Srivastava, Anukriti

Publication type:

Article

Study of genetic polymorphisms and steady-state trough concentrations of imatinib and its active metabolite in predicting efficacy in gastrointestinal stromal tumors.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1604619

By:

Zhang, Menghua;
Chen, Zhiyao;
Liu, Xiaoxue;
Zhou, Xiaojun;
Miao, Liyan

Publication type:

Article

High-accuracy prediction of mutations in nine genes in lung adenocarcinoma via two-stage multi-instance learning on large-scale whole-slide images.

Published in:

Diagnostic Pathology, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13000-025-01663-w

By:

Zhao, Lingyu;
Zhao, Na;
Zhong, Ruiqi;
Niu, Yiru;
Chang, Ziyi;
Su, Peng;
Wang, Zhihui;
Cui, Lifang;
Wang, Bei;
Chen, Huang;
Wang, Xiaowen;
Kong, Xiangbing;
Du, Baolin;
Ren, Fei;
Zhong, Dingrong

Publication type:

Article

Yield of Hearing Loss Gene Panel and Audiometric Findings in a Retrospective Cohort of Children With Permanent Childhood Hearing Impairment.

Published in:

Clinical Otolaryngology, 2025, v. 50, n. 4, p. 780, doi. 10.1111/coa.14316

By:

Kulkarni, Alpana M.;
Majeithia, Henna;
Busby, Louise

Publication type:

Article

Genetic Factors Associated with Posttransplant Diabetes Mellitus (PTDM) in Renal Transplant Patients: A Synthesis of Current Knowledge.

Published in:

Medicina Fluminensis, 2025, v. 61, n. 2, p. 149, doi. 10.21860/medflum2025_330048

By:

Bulić, Luka;
Brenner, Eva;
Cvitić, Marin;
Vareško, Aurora;
Kraljević, Ivana

Publication type:

Article

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00501-8

By:

de Andrade, Kelvin César;
Pinto, Emilia M.;
Zhao, Tianna;
Zeigler, Logan P.;
Kim, Jung;
Giri, Neelam;
Haley, Jeremy S.;
McReynolds, Lisa J.;
Florez-Vargas, Oscar;
Phillips, Aaron H.;
Kriwacki, Richard W.;
Akinniyi, Sherifa A.;
Cohen, Scott B.;
Emerson, Matthew R.;
Smelser, Diane T.;
Urban, Gretchen M.;
Fridman, Cintia;
Zambetti, Gerard P.;
Bryan, Tracy M.;
Carey, David J.

Publication type:

Article

Genomics and Your Health - U.S. Centers for Disease Control and Prevention.

Published in:

Journal of Consumer Health on the Internet, 2025, v. 29, n. 2, p. 257, doi. 10.1080/15398285.2025.2494947

By:

Bihn, Clara

Publication type:

Article

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1222, doi. 10.3390/biomedicines13051222

By:

Elksne, Eva;
Lace, Baiba;
Stavusis, Janis;
Tvoronovica, Anastasija;
Zayakin, Pawel;
Elksnis, Eriks;
Ozolins, Arturs;
Micule, Ieva;
Valeina, Sandra;
Inashkina, Inna

Publication type:

Article

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1018, doi. 10.3390/biomedicines13051018

By:

Spargo, Thomas P.;
Iacoangeli, Alfredo;
Ryten, Mina;
Forzano, Francesca;
Pearce, Neil;
Al-Chalabi, Ammar

Publication type:

Article

Unraveling the mystery: Exploring a case of prolonged fever and hidden genetics: Case report.

Published in:

Journal of Family Medicine & Primary Care, 2025, v. 14, n. 5, p. 2065, doi. 10.4103/jfmpc.jfmpc_1839_24

By:

Jamil, Syed Furrukh;
Alhawsawi, Kawther Ibrahim;
Alrefaei, Shahad Mohammed

Publication type:

Article