Works matching DE "GENETIC testing

Results: 5000

Risk Stratification of Left Ventricle Hypertrabeculation Versus Non‐Compaction Cardiomyopathy Using Echocardiography, Magnetic Resonance Imaging, and Cardiac Computed Tomography.

Published in:

Echocardiography, 2025, v. 42, n. 5, p. 1, doi. 10.1111/echo.70165

By:

Mirchuk, Marianna

Publication type:

Article

Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03775-4

By:

Akan, Gökçe;
Balcı, Mehmet Cihan;
Tuncel, Gülten;
Karaca, Meryem;
Kazan, Hasan Hüseyin;
Özketen, Ahmet Çağlar;
Özgen, Özge;
Gökçay, Gülden Fatma;
Atalar, Fatmahan

Publication type:

Article

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.

Published in:

2025

By:

Villeneuve, Thomas;
Jamme, Thibaut;
Schwob, Robin;
Levade, Thierry;
Prévot, Grégoire

Publication type:

Letter

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03813-1

By:

Elbagoury, Nagham Maher;
Tawfik, Caroline Atef;
Abdel-Aleem, Asmaa Fawzy;
Fathy, Heba Mahmoud;
Baddar, Dina Nabil;
Essawi, Mona Lotfi

Publication type:

Article

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03807-z

By:

Fei, Hongjun;
Han, Xu;
Chen, Yiyao;
Xu, Yan;
Chang, Chunxin;
Li, Ming;
Wang, Yanlin;
Wang, Jian;
Li, Niu;
Li, Shuyuan

Publication type:

Article

Epidemiological insights and healthcare challenges of tuberous sclerosis complex in Shizuoka Prefecture: a retrospective cohort study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03799-w

By:

Kishida, Satoshi;
Nakatani, Eiji;
Usui, Takeshi;
Fujimoto, Shuhei;
Yamamoto, Seiichiro;
Miyachi, Yoshiki

Publication type:

Article

Recurrent Paroxysmal Torticollis as a Presenting Feature of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).

Published in:

2025

By:

Modage, Anita;
Gaonkar, Virendra;
Pereira, Myla Isha

Publication type:

Letter

Exploring shared clinical features and successful therapeutic interventions in CARD14‐associated papulosquamous eruption.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 6, p. e485, doi. 10.1111/jdv.20420

By:

Rossel, S. Vanya J.;
Reich, Adam;
Baniel, Avital;
Wertheim‐Tysarowska, Katarzyna;
Frommherz, Leonie H.;
Nolberczak, Daniel;
Lesiak, Aleksandra;
Kwiek, Bartlomiej;
Osipowicz, Katarzyna;
Bekkenk, Marcel W.;
Spruijt, Liesbeth;
Seyger, Marieke M. B.;
Kołt‐Kamińska, Marta;
Giehl, Kathrin;
Nartbutt, Joanna;
Vreeburg, Maaike;
Steijlen, Peter M.;
Sprecher, Eli;
van Geel, Michel;
Gostyński, Antoni H.

Publication type:

Article

The Multifaceted Nature of Tuberous Sclerosis Complex.

Published in:

Sultan Qaboos University Medical Journal, 2025, v. 25, n. 1, p. 300, doi. 10.18295/2075-0528.2827

By:

Khan, Saif A.;
Baig, Amanullah;
Riyami, Dawood

Publication type:

Article

Deciphering TP53 Mosaic Variants on Germline Biomarker Testing: Implications for Oncology Nurses.

Published in:

Clinical Journal of Oncology Nursing, 2025, v. 29, n. 3, p. 201, doi. 10.1188/25.CJON.201-206

By:

Grissom, Alyssa;
Mahon, Suzanne M.

Publication type:

Article

Precision Oncology and the Evolution of Breast Cancer Care.

Published in:

Clinical Journal of Oncology Nursing, 2025, v. 29, n. 3, p. 196, doi. 10.1188/25.CJON.196-200

By:

Guinigundo, Andrew S.

Publication type:

Article

ASSESSING KNOWLEDGE, AWARENESS, AND PERCEPTION OF GENETIC TESTING FOR HEREDITARY DISORDERS IN COMPANION ANIMALS AMONG PET OWNERS IN KLANG VALLEY.

Published in:

Jurnal Veterinar Malaysia, 2024, v. 36, n. 2, p. 36

By:

SALISI, M. S.;
AMALIA, A.;
AJAT, M. M.;
KADIR, A. ABDUL;
RADZI, R.;
PANHWAR, M. IBRAHIM

Publication type:

Article

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

Published in:

2025

By:

Zhang, Ruxuan;
Hu, Tingting;
Wang, Shuai;
Cheng, Yiping;
Luo, Dandan;
Zheng, Dongmei;
Zhou, Xinli

Publication type:

Case Study

Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses.

Published in:

Journal of Veterinary Internal Medicine, 2025, v. 39, n. 3, p. 1, doi. 10.1111/jvim.70081

By:

Aleman, Monica;
McCue, Molly;
Bellone, Rebecca R.

Publication type:

Article

DNA Paternity Testing in Lebanon: Ambiguity in Laboratory Practices, Unsolved Ethical Issues, and Need for a Legislative Framework.

Published in:

Canadian Journal of Bioethics / Revue canadienne de bioéthique, 2025, v. 8, n. 1/2, p. 6, doi. 10.7202/1117865ar

By:

Azoury, Mirna;
Ibrahim, José-Noel;
Yassine, Hasan;
Abou-Mrad, Fadi

Publication type:

Article

Association between Apolipoprotein E gene polymorphism and the tortuosity of extracranial carotid artery.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1498613

By:

Wang, Jun-Wei;
Li, Xin;
Lu, Liu-Xi;
Chen, Jun-Lin;
Yang, Yong-Tao;
Jin, Ge

Publication type:

Article

Establishment of pupal color as a screening marker and activity analysis of six U6 promoters in Zeugodacus cucurbitae using the white pupae gene.

Published in:

Pest Management Science, 2025, v. 81, n. 6, p. 3202, doi. 10.1002/ps.8692

By:

Fan, Zizhen;
Wu, Yan;
Zha, Xuezong;
Ma, Siya;
Ma, Lujie;
Liang, Lei;
Lin, Xianwu;
Yan, Rihui

Publication type:

Article

Opportunities amid complexities in returning genetic results to black precision medicine research participants: Interview themes in context with open all of us data.

Published in:: Journal of Clinical & Translational Science, 2025, v. 9, n. 1, p. 1, doi. 10.1017/cts.2025.67
Publication type:: Article

Integrating mRNA vaccines into the attitudes toward genomics and precision medicine scale: A validation study with a sample of 4939 adults in the USA.

Published in:: Journal of Clinical & Translational Science, 2025, v. 9, n. 1, p. 1, doi. 10.1017/cts.2025.38
Publication type:: Article

Keynote Lectures: Genetic background of hearing loss in patients with inner ear malformations.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 101

By:

Baldyga, N.;
Gan, N.;
Ozieblo, D.;
Leja, M. L.;
Furmanek, M.;
Skarzynski, H.;
Oldak, M.

Publication type:

Article

Oral Presentations: I Studies: (ID-6937) Central auditory processing differences in dizygotic twins: case study.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 55

By:

Karakoç, Kürşad;
Küçükünal, Işik Sibel

Publication type:

Article

Optical Genome Mapping as a New Approach to Detecting Cytogenetic Abnormalities: Why Is It Difficult in Multiple Myeloma?

Published in:

Turkish Journal of Hematology, 2025, v. 42, n. 2, p. 165, doi. 10.4274/tjh.galenos.2025.2025.0052

By:

Tokaç, Ayşe Gül Bayrak;
Mutlu, Mehmet Burak;
Erdem, Simge;
Aday, Aynur

Publication type:

Article

"Putting the cart before the horse": an update on promiscuous gene fusions in soft tissue tumors.

Published in:

Virchows Archiv: European Journal of Pathology, 2025, v. 486, n. 5, p. 905, doi. 10.1007/s00428-025-04099-1

By:

Marcelis, Lukas;
Folpe, Andrew L.

Publication type:

Article

Expanding role of the breast advanced nurse practitioner: mainstream pathway for genetic testing.

Published in:

British Journal of Nursing, 2025, v. 34, n. 10, p. S26, doi. 10.12968/bjon.2024.0474

By:

Davies-Crowley, Kayleigh;
Brooks, Rebecca

Publication type:

Article

Long noncoding RNAs in familial hypercholesterolemia: biomarkers, therapeutics, and AI in precision medicine.

Published in:

Lipids in Health & Disease, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12944-025-02605-7

By:

Daghistani, Hussam;
Hegazy, Gehan A.;
Alkhalofah, Manal;
Alsobeihy, Afaf;
Nasser, Sara;
Gad, Hoda;
Shamrani, Taghreed;
Mufrrih, Mohammed;
Alyousfi, Dareen

Publication type:

Article

Cardiac diagnoses and long-term outcomes in ring-like late gadolinium enhancement evaluated by cardiac magnetic resonance.

Published in:

European Heart Journal - Cardiovascular Imaging, 2025, v. 26, n. 5, p. 841, doi. 10.1093/ehjci/jeaf055

By:

Filomena, Domenico;
Vandenberk, Bert;
Dresselaers, Tom;
Willems, Rik;
Masci, Pier Giorgio;
Robyns, Tomas;
Bogaert, Jan

Publication type:

Article

Serologic and molecular identification of the variation on ABO*B.01 gene in ABO glycosyltransferases associated with Bw phenotype: a case report.

Published in:

Laboratory Medicine, 2025, v. 56, n. 3, p. 312, doi. 10.1093/labmed/lmae086

By:

Li, Xiaoshuai;
Wang, Qiushi

Publication type:

Article

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Published in:

Human Reproduction Update, 2025, v. 31, n. 3, p. 218, doi. 10.1093/humupd/dmae037

By:

Li, Kuokuo;
Chen, Yuge;
Sheng, Yuying;
Tang, Dongdong;
Cao, Yunxia;
He, Xiaojin

Publication type:

Article

Genetski čimbenici i cerebralna paraliza.

Published in:

Paediatria Croatica, 2025, v. 69, p. 53, doi. 10.13112/pc.1051

By:

Juraški, Romana Gjergja

Publication type:

Article

Genetics and unexplained infant death: genomics in the courtroom.

Published in:

Paediatria Croatica, 2025, v. 69, p. 73, doi. 10.13112/pc.1054

By:

Arsov, Todor;
Vinuesa, Carola G.

Publication type:

Article

Cjeloegzomsko sekvenciranje u kliničkoj primjeni - iskustvo Kliničkog bolničkog centra Split.

Published in:

Paediatria Croatica, 2025, v. 69, p. 36, doi. 10.13112/pc.1049

By:

Lozić, Bernarda;
Ogorevc, Marin;
Smoljo, Tomislav;
Knezović, Dora

Publication type:

Article

Racionalni pristup suvremenoj genetskoj dijagnostici.

Published in:

Paediatria Croatica, 2025, v. 69, p. 15, doi. 10.13112/pc.1045

By:

Frković, Sanda Huljev

Publication type:

Article

Dijagnostičke mogućnosti u kliničkoj genetici danas i kako tumačiti nalaz.

Published in:

Paediatria Croatica, 2025, v. 69, p. 3, doi. 10.13112/pc.1042

By:

Pušeljić, Silvija;
Perić, Nora;
Kuna, Ema;
Maloča, Toni;
Tomac, Višnja;
Pušeljić, Nika;
Perić, Luka

Publication type:

Article

Unlocking the Genetic Secrets of CMMRD: a Case Study in Inherited Malignant Brain Tumour.

Published in:

2025

By:

Sugan Selvanathan;
Teh Kok Hoi;
Teh Chair Ying;
Subasri Armon

Publication type:

Case Study

Application of multi-omics technology in pathogen identification and resistance gene screening of sheep pneumonia.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11699-3

By:

Huang, Kai;
Yuan, Lvfeng;
Liu, Jia;
Li, Xiaolong;
Xu, Dan;
Zhang, Xiaoxue;
Peng, Jie;
Tian, Huibin;
Li, Fadi;
Wang, Weimin

Publication type:

Article

An integrative systems-biology approach defines mechanisms of Alzheimer's disease neurodegeneration.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59654-w

By:

Leventhal, Matthew J.;
Zanella, Camila A.;
Kang, Byunguk;
Peng, Jiajie;
Gritsch, David;
Liao, Zhixiang;
Bukhari, Hassan;
Wang, Tao;
Pao, Ping-Chieh;
Danquah, Serwah;
Benetatos, Joseph;
Nehme, Ralda;
Farhi, Samouil;
Tsai, Li-Huei;
Dong, Xianjun;
Scherzer, Clemens R.;
Feany, Mel B.;
Fraenkel, Ernest

Publication type:

Article

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Published in:

2025

By:

Zhong, Guoxing;
Wu, Jiajia;
Zhong, Zeyan;
Chen, Dina;
Guan, Zhiyang;
Huang, Shaohui;
Chen, Jianhong

Publication type:

Case Study

Corticosteroid-binding Globulin Dysfunction Due to Homozygous SERPINA6 Lyon Variant in a Pediatric Patient Open Access.

Published in:

2025

By:

Jiang, Mary R;
Zuijdwijk, Caroline;
Carter, Melissa T;
Ahmet, Alexandra

Publication type:

Case Study

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1572791

By:

Nishikawa, Takuro;
Tomomasa, Dan;
Hijikata, Atsushi;
Kasabata, Hiroshi;
Okamoto, Yasuhiro;
Ochs, Hans D.;
Kanegane, Hirokazu

Publication type:

Article

A welfare analysis of genetic testing in health insurance markets with adverse selection and prevention.

Published in:

Canadian Journal of Economics, 2025, v. 58, n. 2, p. 443, doi. 10.1111/caje.70010

By:

Bardey, David;
De Donder, Philippe

Publication type:

Article

Optimal self‐insurance with genetic testing and state‐dependent utility.

Published in:

Canadian Journal of Economics, 2025, v. 58, n. 2, p. 418, doi. 10.1111/caje.12733

By:

Crainich, David

Publication type:

Article

VEXAS Syndrome: An Overlooked Threat.

Published in:

Balkan Medical Journal, 2025, v. 42, n. 3, p. 185, doi. 10.4274/balkanmedj.galenos.2025.2025-170425

By:

Uğurlu, Serdal;
Kılıç, Berkay

Publication type:

Article

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1499456

By:

Sen, Siddhartha;
Handler, Hillary P.;
Victorsen, Alec;
Flaten, Zach;
Ellison, Aidan;
Knutson, Todd P.;
Munro, Sarah A.;
Martinez, Ryan J.;
Billington, Charles John;
Laffin, Jennifer J.;
Bray, Sarah;
Mroz, Pawel;
Yohe, Sophia;
Nelson, Andrew C.;
Bower, Matthew;
Thyagarajan, Bharat

Publication type:

Article

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Published in:

Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01243-0

By:

Bychkov, Igor;
Shchukina, Elza;
Zakharova, Ekaterina

Publication type:

Article

Low Uptake of Hereditary Cancer Screening Among Breast Cancer Survivors Highlights Missed Opportunities for Preventive Care.

Published in:

Patient Care (Online), 2025, p. N.PAG

By:

Halsey, Grace

Publication type:

Article

Low Uptake of Hereditary Cancer Screening Among Breast Cancer Survivors Highlights Missed Opportunities for Preventive Care.

Published in:

Patient Care (Online), 2025, p. N.PAG

By:

Halsey, Grace

Publication type:

Article

Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03772-7

By:

Domaradzki, Jan;
Walkowiak, Dariusz

Publication type:

Article

The underlying molecular mechanisms and biomarkers of Hip fracture combined with deep vein thrombosis based on self sequencing bioinformatics analysis.

Published in:

Journal of Orthopaedic Surgery & Research, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13018-025-05668-5

By:

Shi, Guanghua;
Shi, Xiaocui;
Zhang, Meng;
Cheng, Rui;
Hu, Mengqing;
Zhao, Yu;
Li, Shimei;
Li, Xiuxiu;
Ma, Haiyun;
Li, Pengcui

Publication type:

Article

Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium.

Published in:

Indian Journal of Medical & Paediatric Oncology, 2025, v. 46, n. 3, p. 288, doi. 10.1055/s-0044-1790202

By:

Sainulabdin, Gazel;
Kanvinde, Purva;
Khurana, Ritika;
Mudaliar, Sangeeta;
Bhat K, Vasudeva;
Shukla, Anju;
Krishnan, V. P.;
Krishnan, Yamini

Publication type:

Article