Works matching DE "GENETIC testing"

Results: 5000

Congenital CD59 Deficiency—A Novel Cause of Relapsing-Remitting Polyneuropathy.

Published in:

2025

By:

Cornelius, Leema P;
Livingston, Jered;
Elango, Neeraj

Publication type:

Letter

Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.

Published in:

Diabetes Spectrum, 2025, v. 38, n. 3, p. 343, doi. 10.2337/ds24-0081

By:

Yvonnet, Sarah;
Reim, Pauline Kromann;
Thuesen, Anne Cathrine Baun

Publication type:

Article

Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Persistent Hypercreatinekinasemia: Value of the Peripheral Blood Smear.

Published in:

Journal of Pediatric Research, 2025, v. 12, n. 2, p. 1, doi. 10.4274/jpr.galenos.2025.85453

By:

Taş, Burcu Tufan;
Doğru, Ömer

Publication type:

Article

"DNA tests for every baby on the NHS".

Published in:

2025

By:

Wald, Nicholas J;
Old, Robert

Publication type:

Editorial

CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 15, p. 7655, doi. 10.3390/ijms26157655

By:

Demchenko, Anna G.;
Kyian, Tatiana A.;
Kondratyeva, Elena I.;
Bragina, Elizaveta E.;
Ryzhkova, Oksana P.;
Veiko, Roman V.;
Nazarova, Aleksandra G.;
Chernykh, Vyacheslav B.;
Smirnikhina, Svetlana A.;
Kutsev, Sergey I.

Publication type:

Article

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 15, p. 7418, doi. 10.3390/ijms26157418

By:

Hnoonual, Areerat;
Plong-On, Oradawan;
Tangviriyapaiboon, Duangkamol;
Charalsawadi, Chariyawan;
Limprasert, Pornprot

Publication type:

Article

Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene.

Published in:

2025

By:

Padilla-Guzmán, Alejandro;
Ochoa-Jiménez, Vanessa Amparo;
Forero-Delgadillo, Jessica María;
Apraez-Murillo, Karen;
Pachajoa, Harry;
Restrepo, Jaime M.

Publication type:

Case Study

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.

Published in:

2025

By:

Bedja-Iacona, Léa;
Forget, Arthur;
Boisseau, Chloé;
Marouillat, Sylviane;
Chudinova, Aleksandra;
Veyrat-Durebex, Charlotte;
Guissart, Claire;
Lumbroso, Serge;
Raoul, Cédric;
Andres, Christian R.;
Blasco, Hélène;
Couratier, Philippe;
Corcia, Philippe;
Verschueren, Annie;
Mouzat, Kevin;
Vourc'h, Patrick

Publication type:

Case Study

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Published in:

2025

By:

Dell'Orso, Gianluca;
Passarella, Tommaso;
Cappato, Serena;
Cappelli, Enrico;
Regis, Stefano;
Maffei, Massimo;
Balbi, Matilde;
Ravera, Silvia;
Di Martino, Daniela;
Viaggi, Silvia;
Davì, Sabrina;
Corsolini, Fabio;
Giarratana, Maria Carla;
Arcuri, Luca;
Mariani, Eugenia;
Morini, Riccardo;
Massaccesi, Erika;
Guardo, Daniela;
Calvillo, Michaela;
Palmisani, Elena

Publication type:

Case Study

Molecular Physiological and Pathological Progression of Neurological Diseases.

Published in:

2025

By:

Bottai, Daniele;
Adami, Raffaella

Publication type:

Editorial

Barriers and Breakthroughs in Precision Oncology: A National Registry Study of BRCA Testing and PARP Inhibitor Uptake in Women from the National Gynae-Oncology Registry (NGOR).

Published in:

Cancers, 2025, v. 17, n. 15, p. 2541, doi. 10.3390/cancers17152541

By:

Naidoo, Mahendra;
Scott, Clare L;
Lloyd, Mike;
McNally, Orla;
Rome, Robert;
Perera, Sharnel;
Zalcberg, John R

Publication type:

Article

MicroRNA Expression Analysis and Biological Pathways in Chemoresistant Non-Small Cell Lung Cancer †.

Published in:

Cancers, 2025, v. 17, n. 15, p. 2504, doi. 10.3390/cancers17152504

By:

Papadaki, Chara;
Mortoglou, Maria;
Boukouris, Aristeidis E.;
Gourlia, Krystallia;
Markaki, Maria;
Lagoudaki, Eleni;
Koutsopoulos, Anastasios;
Tsamardinos, Ioannis;
Mavroudis, Dimitrios;
Agelaki, Sofia

Publication type:

Article

The Kinase Inhibitor GNF-7 Is Synthetically Lethal in Topoisomerase 1-Deficient Ewing Sarcoma.

Published in:

Cancers, 2025, v. 17, n. 15, p. 2475, doi. 10.3390/cancers17152475

By:

Sayers, Carly M.;
Carter, Morgan B.;
Lei, Haiyan;
Mendoza, Arnulfo;
Shema, Steven;
Zhang, Xiaohu;
Wilson, Kelli;
Chen, Lu;
Klumpp-Thomas, Carleen;
Thomas, Craig J.;
Heske, Christine M.;
Shern, Jack F.

Publication type:

Article

Bioinformatics Screening of Tumor-Derived Neuropeptides Mediating Neuroimmune Axis of Head and Neck Cancer.

Published in:

Cancers, 2025, v. 17, n. 15, p. 2464, doi. 10.3390/cancers17152464

By:

Kishan, Ravi;
Zhang, Gao;
Yang, Weifa;
Su, Yuxiong

Publication type:

Article

Precision Oncology Guided by Genomic Profiling in Breast Cancer: Real-World Data from a Molecular Tumor Board.

Published in:

Cancers, 2025, v. 17, n. 15, p. 2435, doi. 10.3390/cancers17152435

By:

Graf, Tim;
Boos, Laura A.;
Mehra, Tarun;
Miglino, Nicola;
Sobottka, Bettina;
Rüschoff, Jan H.;
Fábregas-Ibáñez, Luis;
Zoche, Martin;
Frauchiger-Heuer, Heike;
Witzel, Isabell;
Ring, Alexander;
Wicki, Andreas

Publication type:

Article

The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.

Published in:

Clinical Medicine Insights: Pediatrics, 2025, p. 1, doi. 10.1177/11795565251340558

By:

Yazbeck, Nadine;
Hanna-Wakim, Rima;
Noun, Dolly;
Karam, Pascale E.

Publication type:

Article

Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats.

Published in:

Molecular Cytogenetics (17558166), 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13039-025-00724-5

By:

Wei, Rong;
Hu, Haili;
Wang, Shenlin;
Tang, Junxiang;
Li, Jingran;
Tong, Keting;
Wang, Chaohong;
Zhu, Jiansheng

Publication type:

Article

Rapid Identification of the SNP Mutation in the ABCD4 Gene and Its Association with Multi-Vertebrae Phenotypes in Ujimqin Sheep Using TaqMan-MGB Technology.

Published in:

Animals (2076-2615), 2025, v. 15, n. 15, p. 2284, doi. 10.3390/ani15152284

By:

Zhang, Yue;
Zhang, Min;
Su, Hong;
Liu, Jun;
Zhao, Feifei;
Zhao, Yifan;
Li, Xiunan;
Yang, Yanyan;
Cao, Guifang;
Zhang, Yong

Publication type:

Article

Italian Guidelines for Cardiological Evaluation in Competitive Football Players: A Detailed Review of COCIS Protocols.

Published in:

Healthcare (2227-9032), 2025, v. 13, n. 15, p. 1932, doi. 10.3390/healthcare13151932

By:

Longo, Umile Giuseppe;
Ahlbaumer, Georg;
Vannicelli, Roberto;
Gregorace, Emanuele;
Ortolina, Davide;
Nicodemi, Guido;
Altieri, Daniele;
Carnevale, Arianna;
Carucci, Silvia;
Colella, Alessandra;
Scalfaro, Francesco;
Lemme, Erika

Publication type:

Article

Study protocol of D1Ce Screen: A pilot project of the Italian national screening program for type 1 diabetes and coeliac disease in the paediatric population.

Published in:

PLoS ONE, 2025, v. 20, n. 8, p. 1, doi. 10.1371/journal.pone.0328624

By:

Vincentini, Olimpia;
Pricci, Flavia;
Silano, Marco;
Agrimi, Umberto;
Iacoponi, Francesca;
Villa, Marika;
Porfilio, Chiara;
Sedile, Adalgisa Ilaria;
Ulivi, Francesca;
Catassi, Carlo;
Cherubini, Valentino;
D'Avino, Antonio;
Carrera, Paola;
Lampasona, Vito;
Bosi, Emanuele

Publication type:

Article

Uterine leiomyoma-like inflammatory myofibroblastic tumour with a rare ALK::SYN3 fusion: a clinicopathologic and molecular analysis.

Published in:

Diagnostic Pathology, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13000-025-01701-7

By:

Ma, Cao;
Wei, Xiaoying;
Chen, Zhe;
Hao, Xiangzhi;
Sun, Yuping;
Zi, Jie;
Chu, Chunyan;
Zhang, Lihua

Publication type:

Article

ANTAGONIST REPLY.

Published in:

Revista Argentina de Cardiología, 2025, v. 93, n. 3, p. 218, doi. 10.7775/rac.v93.i3.20893

By:

Cagide, Arturo

Publication type:

Article

AGONIST REPLY.

Published in:

Revista Argentina de Cardiología, 2025, v. 93, n. 3, p. 218, doi. 10.7775/rac.v93.i3.20893

By:

Labadet, Carlos

Publication type:

Article

Indications and timing for genetic testing in ovarian cancer.

Published in:

Journal of Medical Science, 2025, v. 94, n. 2, p. 113, doi. 10.20883/medical.e1274

By:

Miedziarek, Cezary;
Markwitz, Maksymilian;
Potograbski, Michał;
Zaborowski, Mikołaj Piotr

Publication type:

Article

Glutathione-S-transferase pi-1 polymorphisms as predictors of the severity and onset of the development of cumulative oxaliplatin-induced neurotoxicity in patients with colorectal cancer.

Published in:

World Academy of Sciences Journal, 2025, v. 7, n. 5, p. 1, doi. 10.3892/wasj.2025.369

By:

JAWAD, REHAB A. M.;
MSHIMESH, BAHIR A.;
AL-MAYAH, QASIM S.

Publication type:

Article

SCIENCE DIGEST.

Published in:: New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 2, p. 78
Publication type:: Article

Development and validation of a next-generation sequencing cancer panel.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 2, p. 69

By:

Costas, Francis;
Bickley, Vivienne

Publication type:

Article

Validation of a NOTCH2NLC GGC repeat primed PCR assay for diagnostic purposes.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 2, p. 69

By:

Choi, Sooin;
Hsu, Pei-Chun (Lisa);
Wyatt, Hannah;
Drake, Kylie

Publication type:

Article

Evaluating the DFS70 IgG testing protocol at Pathlab Waikato.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 2, p. 68

By:

Carullo, Khrystine;
Soepnel, Andrew

Publication type:

Article

Evaluation of Colotect™ 1.0 faecal DNA stability for colorectal cancer screening.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 2, p. 68

By:

Bhatnagar, Pallak;
Dixon-McIver, Amanda

Publication type:

Article

Implementing a Rapid Whole Exome Sequencing Order Set in EpicCare<sup>®</sup> to Accelerate Neonatal Diagnosis and Care.

Published in:

Neonatology Today, 2025, v. 20, n. 7, p. 190

By:

Tran, Valerie;
Chan, Francis;
Shin, Jennifer;
Cherukuri, Durga;
Hillyer, Kimberly;
Clark, Robin;
Wang, Hua

Publication type:

Article

NICuriosities: The Curious Case of Disappearing Pleural Effusions and Persistent Polycythemia.

Published in:

Neonatology Today, 2025, v. 20, n. 7, p. 36

By:

Lodhi, Shaina Khan

Publication type:

Article

NETosis Genes and Pathomic Signature: A Novel Prognostic Marker for Ovarian Serous Cystadenocarcinoma.

Published in:

Journal of Imaging Informatics in Medicine, 2025, v. 38, n. 4, p. 2412, doi. 10.1007/s10278-024-01366-6

By:

Zhan, Feng;
Guo, Yina;
He, Lidan

Publication type:

Article

Causal Effects of Inflammatory Arthritis Subtypes on Fibromyalgia: A Comprehensive Mendelian Randomization Study.

Published in:

Journal of Pain Research, 2025, v. 18, p. 3805, doi. 10.2147/JPR.S522207

By:

Wang, Fei;
Jiang, Dengxu;
Zhang, Zhong;
Hu, Zhengjun;
Liang, Yijian

Publication type:

Article

Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10875-8

By:

El Khair, Kenza;
Bouzidi, Aymane;
Charif, Majida;
Charoute, Hicham;
El Hamouchi, Adil;
Serraj Filali, Hanane;
Benrahma, Houda;
Lenaers, Guy;
Barakat, Abdelhamid

Publication type:

Article

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.

Published in:

2025

By:

Kikani, Bijal A.;
Ueberroth, Jordan A.;
Christensen, Cory A.;
Breazzano, Mark P.

Publication type:

Case Study

Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature.

Published in:

2020

By:

Staropoli, Patrick C.;
Yannuzzi, Nicolas A.;
Patel, Nimesh A.;
Negron, Catherin I.;
Prakhunhungsit, Supalert;
Berrocal, Audina M.

Publication type:

Case Study

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03979-8

By:

Ijaz, Aamir;
Abbas, Seyyedha;
Shabbir, Maria;
Badshah, Yasmin;
Abid, Fizzah;
Afsar, Tayyaba;
Razak, Suhail

Publication type:

Article

The exome is not the end, it is just the beginning: A mother's perspective on discovering a variant of uncertain significance in a normal pregnancy.

Published in:

2025

By:

Raz, Shuri

Publication type:

Letter to the Editor

Blau syndrome: A case report with unusual symptoms and literature review.

Published in:

Annals of Medical Research, 2025, v. 32, n. 7, p. 324, doi. 10.5455/annalsmedres.2025.04.101

By:

Dogantan, Seyda;
Taskin, Sema Nur;
Akkus, Erkan

Publication type:

Article

An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications.

Published in:

2025

By:

Manco, Carlo;
Righi, Delia;
Pucci, Barbara;
Damiano, Bruno;
Mignarri, Andrea;
De Stefano, Nicola;
Plantone, Domenico

Publication type:

Case Study

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked to CSF1R mutation: A case report.

Published in:

2025

By:

Morey, Jivan;
Tayade, Kamalesh;
Asole, Dnyaneshwar;
Bharote, Haresh;
Venkitachalam, Anil;
Karle, Anarya;
Chavan, Amarnath

Publication type:

Letter

Novel MYORG mutation in a patient with primary familial brain calcification: A case report.

Published in:

Annals of Movement Disorders, 2025, v. 8, n. 2, p. 136, doi. 10.4103/aomd.aomd_111_24

By:

Hiremath, Prabhudev M.;
Mehta, Anish;
Daniel, Roshan;
Enuguri, Chandrasekhar;
R, Pradeep;
Javali, Mahendra

Publication type:

Article

Genetic screening of ATP7B gene in Iranian Wilson disease patients: a diverse landscape of pathogenic variants.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00758-9

By:

Hashemi, Seyyed-Saleh;
Jafari, Seyed Ali;
Gholoobi, Aida;
Hamzehloei, Tayebeh

Publication type:

Article

Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 8, p. 686, doi. 10.1177/08830738251337972

By:

Aripirala, Prasanthi;
Jagtap, Sujit Abajirao

Publication type:

Article

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 8, p. 641, doi. 10.1177/08830738251330413

By:

Hammond, Leah;
Ippolito, Christina;
Amburgey, Kimberly;
Chitayat, David;
Hewson, Stacy;
McAdam, Laura

Publication type:

Article

The '10 Commandments' for 2024 guidelines on peripheral artery and aortic diseases Free.

Published in:

2025

By:

Mazzolai, Lucia;
Lanzi, Stefano;
Rodriguez-Palomares, José

Publication type:

Abstract

Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.

Published in:

Oncology Reviews, 2025, p. 1, doi. 10.3389/or.2025.1605606

By:

Hachmeriyan, Mari;
Levkova, Mariya;
Yahya, Dinnar;
Stoyanova, Milena;
Dimitrova, Eleonora

Publication type:

Article

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03810-4

By:

AlQudairy, Hanan;
AlMuhaizea, Mohammad A.;
Tohary, Mohamed;
Alfuraih, Maissa;
Alnafisah, Aisha;
AlHargan, Aljouhra;
Albader, Anoud;
Jaber, Hadeel;
Almass, Rawan;
Albakheet, Albandary;
Alsheddi, Terfa;
AlObeid, Eman;
Alrasheed, Maha M.;
Al-Odaib, Ali;
AlZaidan, Hamad;
AlSayed, Moeenaldeen D.;
Kaya, Namik

Publication type:

Article

Clinical profile of monogenic diabetes: A case series from a single South Indian diabetes clinic.

Published in:

2025

By:

Sureshkumar, Pichakacheri;
Radha, Venkatesan;
Unnikrishnan, Ranjit;
Mohan, Viswanathan

Publication type:

Case Study