Works matching DE "GENETIC testing"

Results: 5000

Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 156, doi. 10.1111/cge.14729

By:

Zhang, Ying;
Wu, Jiangfen;
Ren, Lingyan;
Li, Fangfang;
Wu, Xian;
Guo, Min;
You, Guiqin;
Fu, Zhengqian;
Long, Guiping;
Huang, Shengwen

Publication type:

Article

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 199, doi. 10.1111/cge.14727

By:

Stavrén‐Eriksson, Elin;
Hammarsjö, Anna;
Lindstrand, Anna;
Nordgren, Ann;
Grigelioniene, Giedre;
Pigg, Maritta Hellström

Publication type:

Article

Progressive Cone‐Rod Synaptic Dysfunction in Dynamin‐1 (DNM1) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 194, doi. 10.1111/cge.14724

By:

Marmoy, Oliver R.;
Hay, Eleanor;
Bowman, Richard;
Thompson, Dorothy A.

Publication type:

Article

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 115, doi. 10.1111/cge.14715

By:

Petillo, Roberta;
De Maggio, Ilaria;
Piscopo, Carmelo;
Chetta, Massimiliano;
Tarsitano, Marina;
Chiriatti, Luigi;
Sannino, Elvira;
Torre, Serena;
D'Antonio, Marcella;
D'Ambrosio, Paola;
Rambaldi, Marco;
Cioce, Maria;
De Stefano, Valentina;
Parisi, Maria Rita;
Telese, Antonella;
Oro, Maria;
Rivieccio, Maria;
Radio, Francesca Clementina;
Mancini, Cecilia;
Niceta, Marcello

Publication type:

Article

三穗鸭体尺与屠宰性状的全基因组关联分析.

Published in:

Journal of Henan Agricultural Sciences, 2025, v. 54, n. 6, p. 135, doi. 10.15933/j.cnki.1004-3268.2025.06.015

By:

伍革民;
韩雪;
吴松成;
冯宇隆

Publication type:

Article

Are You Willing to Share Your DNA With Us? An Exploratory Insight Into the Privacy Calculus of Direct‐To‐Consumer Genetic Testing.

Published in:

Journal of Consumer Affairs, 2025, v. 59, n. 2, p. 1, doi. 10.1111/joca.70008

By:

Raeiro, Inês;
Nilsson, Jonas;
Li, Xuexin;
Carlsson Hauff, Jeanette

Publication type:

Article

The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.

Published in:

2025

By:

Kato, Shiori;
Takeichi, Takuya;
Jojima, Keisuke;
Kato, Maiko;
Omi, Michiya;
Tanahashi, Kana;
Otsuka, Atsushi;
Muro, Yoshinao;
Kihara, Akio;
Akiyama, Masashi

Publication type:

Case Study

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-04718-6

By:

Praticò, Andrea Domenico;
Di Napoli, Claudia;
Salafia, Stefania;
Dammino, Edoardo;
Piccione, Maria;
Calì, Francesco;
Scifo, Renato;
Vecchio, Michele;
Zonta, Andrea;
Bonsignore, Maria;
Elia, Maurizio;
Lo Bianco, Manuela;
Polizzi, Agata;
Ruggieri, Martino

Publication type:

Article

The kinetics of nucleolar precursor bodies clustering at the pronuclei interface: Positive correlations with the morphokinetic characteristics of cleaving embryos and euploidy in preimplantation genetic testing programs.

Published in:

Clinical & Experimental Reproductive Medicine, 2025, v. 52, n. 2, p. 150, doi. 10.5653/cerm.2024.06926

By:

Oh, Hwa Soon;
Jang, Jung Mi;
Yoon, Hye Jin;
Choo, Chang Woo;
Lim, Kyung Sil;
Lim, Jin Ho;
Cheon, Yong-Pil

Publication type:

Article

Preimplantation genetic testing for monogenic disorders to prevent MSH6 germline pathogenic variant related colorectal cancer.

Published in:

BMC Cancer, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12885-025-14226-5

By:

Wang, Wenhua;
Zhou, Zheng;
Cheng, Xi;
Chen, Li;
Jing, Jun;
Chen, Chao;
Dong, Jie;
Chen, Hui;
Ma, Jinzhao;
Yao, Bing

Publication type:

Article

Screening of Premature Ovarian Insufficiency-Associated Genes in Turkish Patients.

Published in:

Namık Kemal Tıp Dergisi, 2025, v. 13, n. 2, p. 1, doi. 10.4274/nkmj.galenos.2025.83435

By:

ATLI, Emine İkbal;
GÜRKAN, Hakan;
YALÇINTEPE, Sinem;
DEMİR, Selma;
GÜLER, Hazal SEZGİNER;
ZHURİ, Drenushe;
ATLI, Engin;
ELTER, Koray;
ATEŞ, Sinan

Publication type:

Article

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.

Published in:

Liver International, 2025, v. 45, n. 7, p. 1, doi. 10.1111/liv.70156

By:

Merati, Mohsen;
Jayakumar, Nanditha;
Kapoor, Yuvraaj;
Naik, Hetanshi;
Balwani, Manisha;
Anderson, Karl E.;
Bonkovsky, Herbert L.;
Desnick, Robert J.;
McGuire, Brendan;
Phillips, John;
Bissell, D. Montgomery;
Wang, Bruce

Publication type:

Article

A CRISPR/Cas9 screen reveals proteins at the endosome-Golgi interface that modulate cellular anti-sense oligonucleotide activity.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61039-y

By:

Malong, Liza;
Roskosch, Jessica;
Hager, Carolina;
Fortin, Jean-Philippe;
Schmucki, Roland;
Callow, Marinella G.;
Weile, Christian;
Romeo, Valentina;
Patsch, Christoph;
Martin, Scott;
Costa, Mike;
Modrusan, Zora;
Villaseñor, Roberto;
Koller, Erich;
Haley, Benjamin;
Spang, Anne;
Roudnicky, Filip

Publication type:

Article

Implementation of genetic tests for disease prevention: challenges in evidence synthesis across clinical utility domains Open Access.

Published in:

2025

By:

Gris, Angelica Valz;
Vicente, Astrid M;
Boccia, Stefania

Publication type:

Editorial

Reply.

Published in:

Ultrasound in Obstetrics & Gynecology, 2025, v. 66, n. 1, p. 114, doi. 10.1002/uog.29280

By:

Gadsbøll, K.;
Brix, N.;
Sandager, P.;
Petersen, O. B.;
Souka, A. P.;
Nicolaides, K. H.;
Vogel, I.

Publication type:

Article

Re: Increased nuchal translucency thickness and normal chromosomal microarray.

Published in:

Ultrasound in Obstetrics & Gynecology, 2025, v. 66, n. 1, p. 113, doi. 10.1002/uog.29272

By:

Jing, X.‐Y.;
Li, S.‐Y.;
Li, D.‐Z.

Publication type:

Article

Understanding Barriers to Engagement With a Prostate Cancer Research and Genetic Risk Service Among UK Men of Black African or Black Caribbean Ancestry.

Published in:

Health Expectations, 2025, v. 28, n. 3, p. 1, doi. 10.1111/hex.70282

By:

Rose, Hall;
Hainsworth, Emma;
Thompson, Jeff;
Green, Saran;
Eva, McGrowder;
Denzil, James;
Rosalind, Eeles;
Bancroft, Elizabeth

Publication type:

Article

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis.

Published in:

Health Expectations, 2025, v. 28, n. 3, p. 1, doi. 10.1111/hex.70271

By:

Osman, Homira;
Adamji, Zainab;
Pfeffer, Gerald;
Warman‐Chardon, Jodi;
Varma, Pryamvada;
Keindel, Jenna;
Lintern, Stacey

Publication type:

Article

Role of Non-invasive Preimplantation Genetic Testing-Aneuploidy Using Spent Culture Media and its Concordance with Trophectoderm Biopsy: A Proof of Concept and Validation Study.

Published in:

Journal of Human Reproductive Sciences, 2025, v. 18, n. 2, p. 70, doi. 10.4103/jhrs.jhrs_192_24

By:

Singh, Neeta;
Sethi, Ankita;
Rani, Lata;
Saini, Monika;
Gupta, Ritu;
Malhotra, Neena;
Mahey, Reeta

Publication type:

Article

Exploring the Emotional Effects of Reproductive Decision-Making in Women With a BRCA Pathogenic Variant.

Published in:

Oncology Nursing Forum, 2025, v. 52, n. 4, p. 302, doi. 10.1188/25.ONF.302-312

By:

Skrovanek, Elizabeth;
Bender, Catherine M.;
Dunbar-Jacob, Jacqueline;
Mai, Phuong L.;
Sereika, Susan M.;
Wesmiller, Susan W.

Publication type:

Article

Consideration for Multigene Panel Testing Outside of Cancer-Specific Genetic Testing.

Published in:

Oncology Nursing Forum, 2025, v. 52, n. 4, p. 293, doi. 10.1188/25.ONF.293-301

By:

Smith, Alicia Lauren;
Okut, Hayrettin;
Ablah, Elizabeth;
Ward, Maggie

Publication type:

Article

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5900, doi. 10.3390/ijms26125900

By:

Burykina, Yulia;
Chudakova, Daria;
Zharova, Olga;
Basargina, Elena;
Silnova, Irina;
Sdvigova, Natalia;
Gandaeva, Leila;
Davydova, Yulia;
Kaverina, Valentina;
Zhanin, Ilya;
Pushkov, Alexander;
Fisenko, Andrey;
Savostyanov, Kirill

Publication type:

Article

Clinical and Genetic Characteristics of Parkinson's Disease Patients with Substantia Nigra Hyperechogenicity.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5492, doi. 10.3390/ijms26125492

By:

Milanowski, Łukasz;
Szukało, Piotr;
Kowalska, Małgorzata;
Sikorska, Alicja;
Hoffman-Zacharska, Dorota;
Koziorowski, Dariusz

Publication type:

Article

Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications.

Published in:

Epileptic Disorders, 2025, v. 27, n. 3, p. 397, doi. 10.1002/epd2.70012

By:

Ozcan, Muhittin;
Kanmaz, Seda;
Simsek, Erdem;
Toprak, Dilara Ece;
Olculu, Cemile Büsra;
Ince, Tugce;
Yılmaz, Ozlem;
Atas, Yavuz;
Sen, Gursel;
Aykut, Ayca;
Durmaz, Asude;
Onay, Hüseyin;
Yılmaz, Sanem;
Tekgul, Hasan

Publication type:

Article

BRCA mutations and prostate cancer: should urologist improve daily clinical practice?

Published in:

Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2025, v. 97, n. 2, p. 1, doi. 10.4081/aiua.2025.13635

By:

Vatrano, Simona;
Pepe, Pietro;
Pepe, Ludovica;
Vella, Nuccia;
Alario, Cristina;
Chiarandà, Alessia;
Taranto, Chiara;
Scillieri, Renato;
Mauceri, Cristina;
Fraggetta, Filippo

Publication type:

Article

Identification of DAGLB variants in Japanese early-onset Parkinson's disease.

Published in:

Journal of Neural Transmission, 2025, v. 132, n. 7, p. 1023, doi. 10.1007/s00702-025-02926-y

By:

Luo, Yue;
Funayama, Manabu;
Hatano, Taku;
Li, Yuanzhe;
Yoshino, Hiroyo;
Yamashita, Satoshi;
Mori, Akira;
Nakamura, Ryoichi;
Hashizume, Yoshio;
Yoshida, Mari;
Riku, Yuichi;
Kanzato, Naomi;
Hattori, Nobutaka

Publication type:

Article

Improving the diagnosis of hyperphagia in melanocortin‐4 receptor pathway diseases.

Published in:

Obesity (19307381), 2025, v. 33, n. 7, p. 1217, doi. 10.1002/oby.24287

By:

Abuzzahab, M. Jennifer;
Dubern, Beatrice;
Goldstone, Anthony P.;
Haqq, Andrea M.;
Heymsfield, Steven B.;
Miller, Jennifer L.;
Richards, Jesse;
Wabitsch, Martin;
Yanovski, Jack A.

Publication type:

Article

Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.

Published in:

Journal of Genetic Psychology, 2025, v. 186, n. 4, p. 317, doi. 10.1080/00221325.2025.2454309

By:

Khoodoruth, Mohamed Adil Shah;
Chut-kai Khoodoruth, Widaad Nuzhah;
Alabdulla, Majid;
Khan, Yasser Saeed

Publication type:

Article

Knowledge and Attitude Assessment of Saudi Arabian Undergraduate Medical Students Regarding Genetic Disease Testing.

Published in:

Journal of Nature & Science of Medicine, 2025, v. 8, n. 2, p. 162, doi. 10.4103/jnsm.jnsm_38_24

By:

Mohammed, Boshra;
Nawar, Maya;
Alqurashi, Lama;
Maghrabi, Razan;
Ati, Nouf;
Alqarni, Afnan;
Aljohani, Wafaa;
Sunari, Dalia

Publication type:

Article

Severe Chronic Traumatic Encephalopathy in a US Naval Special Warfare Combatant Crewman.

Published in:

JAMA Network Open, 2025, v. 8, n. 6, p. e2517686, doi. 10.1001/jamanetworkopen.2025.17686

By:

Priemer, David S.;
Rhodes, C. Harker;
Stewart, Gregory W.;
Villar, Joaquin;
Dalgard, Clifton L.;
Perl, Daniel P.

Publication type:

Article

The Effects of Minimal Stimulation Protocol on Preimplantation Genetic Screening.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 12, p. 4285, doi. 10.3390/jcm14124285

By:

Oner, Gokalp;
Karaman, Enes;
Elmali, Ferhan;
Altmisyedioglu, Suat;
Doganay, Hande Nur

Publication type:

Article

Triple Non-Statin Therapy with Ezetimibe, Inclisiran, and Bempedoic Acid in Patients with Genetically Confirmed Statin-Induced Rhabdomyolysis: A Dual Case Report.

Published in:

Pharmaceuticals (14248247), 2025, v. 18, n. 6, p. 818, doi. 10.3390/ph18060818

By:

Dodulík, Jozef;
Plášek, Jiří;
Kacířová, Ivana;
Uřinovská, Romana;
Vrtal, Jiří;
Václavík, Jan

Publication type:

Article

Editorial on Genomic Mosaicism in Human Development and Diseases.

Published in:

2025

By:

Xi, Xincen;
Yang, Xiaoxu

Publication type:

Editorial

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in GNB5 Gene in Child with Prader–Willi and Lodder–Merla Syndrome.

Published in:

Genes, 2025, v. 16, n. 6, p. 689, doi. 10.3390/genes16060689

By:

Marczyk, Tomasz;
Libura, Maria;
Wikiera, Beata;
Góralska, Magdalena;
Pollak, Agnieszka;
Telenga, Marlena;
Płoski, Rafał;
Śmigiel, Robert

Publication type:

Article

Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Published in:

Genes, 2025, v. 16, n. 6, p. 643, doi. 10.3390/genes16060643

By:

Campobasso, Gianluca;
Mercuri, Ludovica;
De Razza, Francesca;
Cosentino, Antonella;
Mele, Marta;
Monittola, Antonella;
Congedo, Carmen;
Calò, Maria Chiara;
Scalcione, Caterina;
D'Amuri, Alessandro;
Mauro, Salvatore;
Lattante, Serena

Publication type:

Article

Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.

Published in:

Genes, 2025, v. 16, n. 6, p. 642, doi. 10.3390/genes16060642

By:

Rigato, Matteo;
Caprara, Carlotta;
Cabrera-Aguilar, J. Said;
Marzano, Nenzi;
Giuliani, Anna;
Mancini, Barbara;
Gastaldon, Fiorella;
Ronco, Claudio;
Zanella, Monica;
Zuccarello, Daniela;
Corradi, Valentina

Publication type:

Article

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Published in:

Genes, 2025, v. 16, n. 6, p. 624, doi. 10.3390/genes16060624

By:

Tozkir, Hilmi;
Asikovali, Semih;
Bozgeyik, Esra;
Gurbuz, Gurkan

Publication type:

Article

Review article: Sepsis in the emergency department – Part 2: Investigations and monitoring.

Published in:

Emergency Medicine Australasia, 2018, v. 30, n. 1, p. 4, doi. 10.1111/1742-6723.12924

By:

Shetty, Amith;
Macdonald, Stephen P. J.;
Keijzers, Gerben;
Williams, Julian M.;
Tang, Benjamin;
de Groot, Bas;
Thompson, Kelly;
Fraser, John F.;
Finfer, Simon;
Bellomo, Rinaldo;
Iredell, Jonathan

Publication type:

Article

Improving awareness of monogenic diabetes through a specialist genetic diabetes nurse.

Published in:

Journal of Diabetes Nursing, 2013, v. 17, n. 7, p. 250

By:

Morel, Kate;
Colclough, Kevin;
Vaughan, Nick;
Shepherd, Maggie

Publication type:

Article

Are you confident your patients have the correct diagnosis?

Published in:

Journal of Diabetes Nursing, 2012, v. 16, n. 10, p. 403

By:

Shepherd, Maggie

Publication type:

Article

Bacterial physiology: Linking cell differentiation and growth.

Published in:

Nature Reviews Microbiology, 2015, v. 13, n. 7, p. 398, doi. 10.1038/nrmicro3505

By:

Nunes-Alves, Cláudio

Publication type:

Article

Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study.

Published in:

2021

By:

Devine, Angela;
Battle, Katherine E.;
Meagher, Niamh;
Howes, Rosalind E.;
Dini, Saber;
Gething, Peter W.;
Simpson, Julie A.;
Price, Ric N.;
Lubell, Yoel

Publication type:

journal article

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.

Published in:

2020

By:

Ryan, Neil A. J.;
McMahon, Raymond;
Tobi, Simon;
Snowsill, Tristan;
Esquibel, Shona;
Wallace, Andrew J.;
Bunstone, Sancha;
Bowers, Naomi;
Mosneag, Ioana E.;
Kitson, Sarah J.;
O'Flynn, Helena;
Ramchander, Neal C.;
Sivalingam, Vanitha N.;
Frayling, Ian M.;
Bolton, James;
McVey, Rhona J.;
Evans, D. Gareth;
Crosbie, Emma J.

Publication type:

journal article

Definitive diagnosis of malignant hyperthermia susceptibility by genetic testing: A case report.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 10, p. 868, doi. 10.1111/pan.14714

By:

Basile, Ellen;
McGrath, Kayla;
Jones, Kareen;
Apostolov, Boyan D.;
Kahana, Madelyn

Publication type:

Article

Perioperative evaluation of direct‐to‐consumer genetic testing results.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 5, p. 619, doi. 10.1111/pan.14149

By:

Eklund, Susan E.;
Polaner, David

Publication type:

Article

Medical alert tattoos—A pinch of style along with patient safety.

Published in:

2018

By:

Lai, Emily A.;
Nesrsta, Eric A.;
Bodiford, Jason M.;
Jain, Ranu R.

Publication type:

Case Study

The Actress, the Court, and What Needs to Be Done to Guarantee the Future of Clinical Genomics.

Published in:

2013

By:

Caplan, Arthur L.

Publication type:

Opinion

Histones Are Passed Back to Stay in Place, More or Less.

Published in:

PLoS Biology, 2011, v. 9, n. 6, p. 1, doi. 10.1371/journal.pbio.1001072

By:

Robinson, Richard

Publication type:

Article

The Pattern of Polymorphism in Arabidopsis thaliana.

Published in:

PLoS Biology, 2005, v. 3, n. 5, p. 1, doi. 10.1371/journal.pbio.0030196

By:

Nordborg, Magnus;
Hu, Tina T;
Ishino, Yoko;
Jhaveri, Jinal;
Toomajian, Christopher;
Zheng, Honggang;
Bakker, Erica;
Calabrese, Peter;
Gladstone, Jean;
Goyal, Rana;
Jakobsson, Mattias;
Kim, Sung;
Morozov, Yuri;
Padhukasahasram, Badri;
Plagnol, Vincent;
Rosenberg, Noah A;
Shah, Chitiksha;
Wall, Jeffrey D;
Wang, Jue;
Zhao, Keyan

Publication type:

Article

The you Gene Encodes an EGF-CUB Protein Essential for Hedgehog Signaling in Zebrafish.

Published in:

PLoS Biology, 2005, v. 3, n. 1, p. 1, doi. 10.1371/journal.pbio.0030066

By:

Woods, Ian G;
Talbot, William S

Publication type:

Article