Works matching DE "GENETIC testing"

Results: 5000

Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00496-2

By:

Li, Jing;
Chen, Lili;
Chen, Xuhui;
Huang, Meng;
Guo, Wenhui;
Chen, Minyan;
Lin, Yuxiang;
Wang, Yali;
Cai, Weifeng;
Qiu, Yibin;
He, Peng;
Cai, Qindong;
Wang, Chuan;
Fu, Fangmeng

Publication type:

Article

Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research.

Published in:

Epilepsy Currents, 2025, v. 25, n. 3, p. 153, doi. 10.1177/15357597241232881

By:

Habela, Christa W.;
Schatz, Krista;
Kelley, Sarah A.

Publication type:

Article

Risk-reducing mastectomy in healthy women with BRCA mutation: a narrative review.

Published in:

Expert Review of Anticancer Therapy, 2025, v. 25, n. 7, p. 797, doi. 10.1080/14737140.2025.2513451

By:

Cipolla, Calogero;
Scandurra, Giuseppa;
Sambataro, Daniela;
Mesi, Chiara;
Greco, Martina;
D'Agati, Eleonora;
Gebbia, Vittorio;
Valerio, Maria Rosaria

Publication type:

Article

Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.

Published in:

European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02799-7

By:

AL-Eitan, Laith N.;
Tarkhan, Amneh H.;
Ali, Haneen O.;
Alasmar, Maryam K.;
Alghamdi, Mansour A.

Publication type:

Article

Caring for children and young people with inherited cardiac conditions: the evolving role of specialist nurses.

Published in:

Nursing Children & Young People, 2025, v. 37, n. 4, p. 27, doi. 10.7748/ncyp.2024.e1532

By:

Tollit, Jennifer;
Oates, Stephanie;
Odori, Alessia;
Smyth, Sorcha;
Kaski, Juan Pablo;
Field, Ella

Publication type:

Article

Anogenital Papular Acantholytic Dyskeratosis with Novel ATP2C1 Mutation Treated with Tacrolimus and Doxycycline.

Published in:

2025

By:

Haqqani, Ruhi;
Haneef, Nayeem S.;
Rana, Sidra;
Reddy, Suchetha;
Khaja, Nasar

Publication type:

Case Study

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1603782

By:

Wei, Ruoying;
Zhang, Kaihui;
Liu, Chen;
Wei, Xuxia;
Jiang, Qin;
Li, Ji-an;
Huo, Meiling;
Liu, Yinggang;
Abdalla, Mohnad;
Du, Li-an;
Yang, Xiaomei;
Li, Fu

Publication type:

Article

Regulation of term and preterm labor: genetics and epigenetics.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1594030

By:

Sun, Kaiyi;
Wang, Ning;
Liu, Yuanyuan;
Gao, Lu

Publication type:

Article

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

Clinical and genetic characteristics of osteopetrosis in children.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 5, p. 22, doi. 10.7499/j.issn.1008-8830.2411167

By:

WANG Min;
JIANG Ao-Shuang;
ZHU Cheng-Lin;
WANG Jie;
WANG Ya-Ping;
GAO Shan;
LI Yan;
CHEN Tian-Ping;
LIU Hong-Jun;
WANG Jian

Publication type:

Article

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03860-8

By:

Xiong, Hongli;
He, Song;
Yang, Zhaoxia;
Zheng, Ruizao;
Yu, Huihong

Publication type:

Article

Addictions in Potential Sperm Donors: What is Possible to Control?

Published in:

Addictology / Adiktologie, 2024, n. 3, p. 183, doi. 10.35198/01-2024-003-0005

By:

PILÍKOVÁ, D.;
ZACHAROVÁ, L.;
Dolejšová, M.;
VRLOVÁ, L.;
Šimůnek, J.

Publication type:

Article

Familial hemophagocytic lymphohistiocytosis in an infant: A case report.

Published in:

2025

By:

Belurkar, Sushma;
Piplani, Gaurvi;
Mundkar, Suneel C.;
B. K., Sandeep Kumar;
Pereiera, Rochelle Anne

Publication type:

Case Study

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

A Preterm Infant with TTN Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report.

Published in:

Neonatal Medicine, 2025, v. 32, n. 1, p. 49, doi. 10.5385/nm.2025.32.1.49

By:

Jeong, Jae Hun;
Kim, Young Hyun;
Lee, Dong Won

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 Orthopedic Strategy for Patients with Larsen Syndrome.

Published in:

Surgical Techniques Development, 2025, v. 14, n. 2, p. 10, doi. 10.3390/std14020010

By:

Kaissi, Ali Al;
Gubin, Alexander;
Ryabykh, Sergey;
Dougales, Vasileios;
Al Kaissi, Hamza;
Kircher, Susanne Gerit;
Grill, Franz

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

Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 7, p. 1049, doi. 10.1111/jpc.70072

By:

Gürcan Kaya, Neslihan;
Öztürk, Hakan;
Sarı, Sinan;
Eğritaş Gürkan, Ödül;
Dalgıç, Buket

Publication type:

Article

Non‐Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 7, p. 1138, doi. 10.1111/jpc.70067

By:

Yilmaz Dagli, Hatice;
Özkan Zarif, Nurten;
Çelik, Kıymet;
Arayici, Sema;
Ongun, Hakan;
Artan, Reha;
Mendilcioğlu, İbrahim İnanç

Publication type:

Article

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03868-0

By:

Ventura, Ignacio;
Revert-Ros, Francisco;
Revert, Fernando;
Prieto-Ruiz, Jesús Ángel;
Hernández-Andreu, José Miguel

Publication type:

Article

The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.

Published in:

2025

By:

Zhang, Ning;
Zhang, Zhikang;
Zhang, Ying;
Su, Xun;
Gao, Yuzhou;
Yang, Jing;
Zou, Weiwei;
Cao, Yunxia;
Ji, Dongmei

Publication type:

Letter

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

Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.

Published in:

Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01499-5

By:

Herrera-Mullar, Jennifer;
Horton, Carolyn;
Weaver, Amybeth;
Towne, Meghan;
Huang, Jennifer M.;
VanNoy, Grace E.;
Harrison, Steven M.;
Wayburn, Bess

Publication type:

Article

Series of Two Indian Infants with Vici Syndrome.

Published in:

2025

By:

Kukreja, Bhavya;
Shankar, Kaushaki;
Bhatia, Hemlata Wadhwani;
Pandey, Vandana

Publication type:

Case Study

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

Cuticular collagens mediate cross-kingdom predator–prey interactions between trapping fungi and nematodes.

Published in:

PLoS Biology, 2025, v. 23, n. 7, p. 1, doi. 10.1371/journal.pbio.3003178

By:

Chang, Han-Wen;
Lin, Hung-Che;
Yang, Ching-Ting;
Tay, Rebecca J.;
Chang, Dao-Ming;
Tung, Yi-Chung;
Hsueh, Yen-Ping

Publication type:

Article

Genetics in Argentina: Identification of a New Variant Associated with Pulmonary Arterial Hypertension.

Published in:

Revista Argentina de Cardiología, 2025, v. 93, n. 2, p. 154, doi. 10.7775/rac.v93.i2.20870

By:

BANCHIO DAL BÓ, MARÍA J.;
FONTECHA, MARÍA B.;
FAVALORO, LILIANA E.;
FUNDIA, ARIELA;
CÁNEVA, JORGE O.

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