Works matching DE "GENETIC testing"

Results: 5000

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

Published in:

BMC Nephrology, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12882-025-04173-5

By:

Paranthaman, Sarranya;
Srivastava, Priyanka;
Kumari, Anu;
Bhardwaj, Chitra;
Bawa, Pratibha;
Kaur, Anupriya;
Panigrahi, Inusha;
Dawman, Lesa;
Tiewsoh, Karalanglin

Publication type:

Article

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 4, p. 715, doi. 10.1177/10556656241234742

By:

Berber, Uğur;
Gül Şıraz, Ülkü;
Yakubi, Mustafa;
Gök, Ebru;
Kara, Leyla;
Kiraz, Aslihan;
Dündar, Munis;
Hatipoglu, Nihal

Publication type:

Article

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Published in:

Cancers, 2025, v. 17, n. 9, p. 1419, doi. 10.3390/cancers17091419

By:

Marabelli, Monica;
Calvello, Mariarosaria;
Marino, Elena;
Morocutti, Chiara;
Gandini, Sara;
Dal Molin, Matteo;
Zanzottera, Cristina;
Mannucci, Sara;
Fava, Francesca;
Feroce, Irene;
Lazzeroni, Matteo;
Guerrieri-Gonzaga, Aliana;
Bertolini, Francesco;
Bonanni, Bernardo

Publication type:

Article

Advances and challenges in the application of donor-derived cell-free DNA for diagnosis and treatment in liver transplantation: a narrative review.

Published in:

BMC Surgery, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12893-025-02911-y

By:

Zhong, Yiwu;
Hu, Xu;
Li, Xiaoping;
Qiao, Yinbiao;
Li, Haoyu;
Zhou, Shijie;
Zheng, Shusen;
Li, Jianhui

Publication type:

Article

Anticipated Responses to Genetic Testing for Alzheimer's Disease Susceptibility among Latinos in Northern Manhattan.

Published in:

Journal of Community Health, 2025, v. 50, n. 3, p. 472, doi. 10.1007/s10900-024-01434-6

By:

Meng, Alicia;
Cabán, María;
Tran, Evelyn;
Wetmore, John B.;
Ottman, Ruth;
Siegel, Karolynn

Publication type:

Article

Genetic insights into BRCA1/2 associated breast cancer in Türkiye: focus on early-onset and aggressive subtypes.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02192-0

By:

Celik Demirbas, Betul;
Kilic Erciyas, Seda;
Sukruoglu Erdogan, Ozge;
Pasin, Ozge;
Yalniz Kayim, Zubeyde;
Özgel, Merve Çiğdem;
Tuncer, Seref Bugra

Publication type:

Article

GWAS significance thresholds in large cohorts of European ancestry.

Published in:

Genetics, 2025, v. 230, n. 1, p. 1, doi. 10.1093/genetics/iyaf056

By:

Cheruiyot, Evans K;
Yang, Tingyan;
McRae, Allan F

Publication type:

Article

Prenatal diagnosis and management of fetal anemia caused by hemoglobin H‐Adana: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 5, p. 1, doi. 10.1111/jog.16310

By:

Sirilert, Sirinart;
Srisupundit, Kasemsri;
Charoenkwan, Pimlak;
Phusua, Arunee;
Tongsong, Theera

Publication type:

Article

Successful management with regular factor IX replacement during pregnancy in a hemophilia B carrier: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 5, p. 1, doi. 10.1111/jog.16303

By:

Fujino, Saho;
Kaneko, Kayoko;
Higuchi, Akitsu;
Mitsui, Mari;
Wada, Seiji;
Ishiguro, Akira

Publication type:

Article

Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family.

Published in:

DNA & Cell Biology, 2025, v. 44, n. 5, p. 238, doi. 10.1089/dna.2024.0280

By:

Zubo, Wu;
Liu, Jie;
Liu, Yi;
Wang, Xiaoli;
Shu, Defeng

Publication type:

Article

SMARCA4-Deficient Undifferentiated Gallbladder Cancer: A Case Report and Review of the Literature.

Published in:

International Journal of Surgical Pathology, 2025, v. 33, n. 4, p. 1057, doi. 10.1177/10668969241297259

By:

Ma, Xiaoting;
Long, Xinyuan;
Song, Fang;
Lv, Jinghuan

Publication type:

Article

二代测序在新生儿疾病早期筛查中的临床应用.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 4, p. 432, doi. 10.7499/j.issn.1008-8830.2409107

By:

蒋丽红;
吴本清;
赵正言

Publication type:

Article

First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05709-2

By:

Shaheen, Manal M.;
Mujahed, Ramzi H.;
Abusabha, Saja E.;
Alwahsh, Iman M.;
Abufara, Areen A.;
Junaidi, Leen J.;
Alkablan, Haya A.

Publication type:

Article

15q24 Duplication: A Case Report of Neurodevelopmental Delay.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 6, p. 764, doi. 10.1177/00099228241296235

By:

Cámara-Domínguez, Agustín;
Stuart-Aguiar, Alexandra Margaret;
Fuentes-Canto, Nicte-Há Asunción;
Cervera-Rosado, Andrea;
Azotla-Vilchis, Cuauhtli Nacxitl;
Márquez-Quiroz, Luz del Carmen;
Vargas-Méndez, Rodrigo;
Contreras-Capetillo, Silvina Noemí

Publication type:

Article

RNA transcripts serve as a template for double-strand break repair in human cells.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59510-x

By:

Jalan, Manisha;
Brambati, Alessandra;
Shah, Hina;
McDermott, Niamh;
Patel, Juber;
Zhu, Yingjie;
Doymaz, Ahmet;
Wu, Julius;
Anderson, Kyrie S.;
Gazzo, Andrea;
Pareja, Fresia;
Yamaguchi, Takafumi N.;
Vougiouklakis, Theodore;
Ahmed-Seghir, Sana;
Steinberg, Philippa;
Neiman-Golden, Anna;
Azeroglu, Benura;
Gomez-Aguilar, Joan;
da Silva, Edaise M.;
Hussain, Suleman

Publication type:

Article

A rare case of Fabry disease cardiomyopathy and severe mitral stenosis.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 4, p. 515, doi. 10.33963/v.phj.104572

By:

Suchodolski, Alexander;
Streb, Witold;
Sędkowska, Agnieszka;
Szulik, Mariola;
Kalarus, Zbigniew

Publication type:

Article

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Published in:

Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01482-0

By:

Wegert, Jenny;
Appenzeller, Silke;
Treger, Taryn D.;
Streitenberger, Heike;
Ziegler, Barbara;
Bausenwein, Sabrina;
Vokuhl, Christian;
Parks, Conor;
Jüttner, Eva;
Gramlich, Susanne;
Ernestus, Karen;
Warman, Steven W.;
Fuchs, Jörg;
Hubertus, Jochen;
von Schweinitz, Dietrich;
Fröhlich, Birgit;
Jorch, Norbert;
Knöfler, Ralf;
Friedrich, Carsten;
Corbacioglu, Selim

Publication type:

Article

Knowledge, attitude, and practice toward genetic testing in breast cancer patients in China.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0322526

By:

Ye, Xin;
Xu, Ting;
Cao, Jun;
Li, Gang;
Zhuang, Ming;
Hu, Guangfu;
Chen, Hongliang;
Wang, Min;
Wang, Jie

Publication type:

Article

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes.

Published in:

International Journal of Genomics, 2025, v. 2025, p. 1, doi. 10.1155/ijog/6963280

By:

Chen, Jian;
Sun, Hairui;
Han, Ling;
Gu, Xiaoyan;
Hao, Xiaoyan;
Fu, Yuwei;
Weng, Zongjie;
Xiong, Yi;
Liu, Baomin;
Zhang, Hongjia;
He, Yihua;
Li, Hong;
Salem, Khaled F. M.

Publication type:

Article

OsSPL9 promotes Cu uptake and translocation in rice grown in high‐Fe red soil.

Published in:

New Phytologist, 2025, v. 246, n. 5, p. 2207, doi. 10.1111/nph.70074

By:

Bai, Xue;
Wu, ShengYang;
Bai, Ai‐Ning;
Zhang, Yu‐Meng;
Zhang, Yan;
Yao, Xue‐Feng;
Yang, Tao;
Chen, Meng‐Meng;
Liu, Jin‐Lei;
Li, Lei;
Zhou, Yao;
Liu, Chun‐Ming

Publication type:

Article

2025 Canadian Urological Association-Canadian Uro-oncology Group Guideline: Metastatic castration-naive and castrationsensitive prostate cancer (Update).

Published in:

Canadian Urological Association Journal, 2025, v. 19, n. 5, p. 142, doi. 10.5489/cuaj.9240

By:

So, Alan I.;
Kim Chi;
Danielson, Brita;
Fleshner, Neil;
Kinnaird, Adam;
Niazi, Tamim;
Pouliot, Frédéric;
Rendon, Ricardo A.;
Shayegan, Bobby;
Sridhar, Srikala S.;
Vigneault, Eric;
Breau, Rodney H.;
Saad, Fred

Publication type:

Article

Summary of changes in the 2025 Canadian Urological Association-Canadian Urologic Oncology Group Guideline on metastatic castration-naive and castration-sensitive prostate cancer.

Published in:

Canadian Urological Association Journal, 2025, v. 19, n. 5, p. 140, doi. 10.5489/cuaj.9228

By:

So, Alan I.;
Saad, Fred

Publication type:

Article

Peutz–Jeghers Syndrome in a Young Ethiopian Male: A Case Report.

Published in:

2025

By:

Shewaye, Abate Bane;
Berhane, Kaleb Assefa;
Nakayama, Yoshifumi

Publication type:

Case Study

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant.

Published in:

2025

By:

Donis, Russell;
Al Badi, Maryam;
Alhashmi, Nadia;
Hattersley, Andrew T;
Flanagan, Sarah E;
De Franco, Elisa

Publication type:

Case Study

Limiting surveillance in individuals with the Palestinian TP53 p. R181C founder variant—is it too soon to draw conclusions?

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 819, doi. 10.1093/jnci/djaf009

By:

Omran, Meis;
Malkin, David

Publication type:

Article

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 1069, doi. 10.1093/jnci/djae334

By:

Lolas-Hamameh, Suhair;
Lieberman, Sari;
Sarahneh, Alaa;
Walsh, Tom;
Lee, Ming K;
Gulsuner, Suleyman;
Rabie, Grace;
Beeri, Rachel;
Aburayyan, Amal;
Mandell, Jessica B;
Fridman, Hila;
Lazer-Derbeko, Galit;
Klopstock, Tehila;
Freireich, Orit;
Lahad, Amnon;
King, Mary-Claire;
Levy-Lahad, Ephrat;
Kanaan, Moien N

Publication type:

Article

Malignant hyperthermia during orthognathic surgery: a case report.

Published in:

2024

By:

Li Yue;
Lin Jie;
Luo Wei;
Luo Kai;
Luo Lin

Publication type:

Case Study

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Published in:

NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00925-6

By:

Saoud, Carla;
Dermawan, Josephine K.;
Arora, Kanika;
Tap, William D.;
Reed, Damon;
Slotkin, Emily K.;
Wexler, Leonard H.;
Murciano-Goroff, Yonina R.;
Latham, Alicia;
Mandelker, Diana L.;
Antonescu, Cristina R.

Publication type:

Article

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03732-1

By:

Al Khudari, Rawan;
Baqla, Sameer;
Al Asmar, Diana

Publication type:

Article

mTOR inhibitor in the treatment of TFE-positive advanced maligmnant PEComa of the uterus: a case report and literature review.

Published in:

Ginekologia Polska, 2025, v. 96, n. 3, p. 206, doi. 10.5603/gpl.99247

By:

Yaoxiang Zhong;
Haikun Yang

Publication type:

Article

Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights.

Published in:

2025

By:

Khalil, Mohammed Rohi;
Laulund, Lone Walentin;
Ploug, Anna Julie Aavild;
Elle, Ida Coordt;
Fenger-Groen, Jesper

Publication type:

Case Study

Wavering on Branches of a Decision Tree.

Published in:

AMA Journal of Ethics, 2025, v. 27, n. 5, p. 382, doi. 10.1001/amajethics.2025.382

By:

Barnhardt, Lio

Publication type:

Article

Male gamete copies to characterize genome inheritance and generate progenies.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-99188-1

By:

Xie, Philip;
Takeuchi, Takumi;
Cheung, Stephanie;
Rosenwaks, Zev;
Palermo, Gianpiero D.

Publication type:

Article

Genetic feature selection algorithm as an efficient glioma grade classifier.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-83879-2

By:

Lin, Ting-Han;
Lin, Hung-Yi

Publication type:

Article

Proposing GLMN, encoding glomulin, as a novel gene for Dowling–Degos disease.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 5, p. 954, doi. 10.1093/bjd/ljae418

By:

Kumar, Sheetal;
Betz, Regina C;
Frank, Jorge

Publication type:

Article

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.

Published in:

Respiratory Care, 2025, v. 70, n. 5, p. 551, doi. 10.1089/respcare.12524

By:

Perales-Afán, Juan José;
Menao, Sebastián;
García-Gutiérrez, Almudena;
García-Zafra, Laura;
del Castillo-Díez, Enrique;
Torralba-Cabeza, Miguel Ángel

Publication type:

Article

Isolated Urticarial Rash in the Clinical Spectrum of HA20.

Published in:

Journal of Rheumatology, 2025, v. 52, n. 5, p. 520, doi. 10.3899/jrheum.2024-1134

By:

Mastrolia, Maria Vincenza;
Duan, Lucy;
Pennal, Alexandra;
Laxer, Ronald M.;
Dissanayake, Dilan

Publication type:

Article

Cardiac benign metastatic leiomyoma- a comprehensive review.

Published in:

Cardio-Oncology, 2025, v. 11, n. 1, p. 1, doi. 10.1186/s40959-025-00336-3

By:

Garg, Pankaj;
Ali, Mostafa;
Alomari, Mohammad;
Schoolmeester, J. Kenneth;
Edgar, Mark;
Landolfo, Carolyn K.;
Attia, Steven;
Landolfo, Kevin P.

Publication type:

Article

Selective immunoglobulin A deficiency combined with juvenile idiopathic arthritis: a report of two cases and literature review.

Published in:

Egyptian Rheumatology & Rehabilitation, 2025, v. 52, n. 1, p. 1, doi. 10.1186/s43166-025-00315-7

By:

Yinli, Tan;
Yusufu, Buweimaieryemu;
Luo, Caiju;
Mou, Yikun;
Zhu, Yuxing;
Yun, Cai

Publication type:

Article

Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings.

Published in:

2025

By:

Gu, Mengjiao;
Huang, Hanjing;
Xiao, Zhanshuo;
Meng, Fanzhang;
Sheng, Han;
Lin, Zhimin;
Li, Chen;
Wu, Yuanhao

Publication type:

Case Study

Extreme Sinus Bradycardia in a 36‐Week Neonate Caused by De Novo Short QT Syndrome: A Case Report.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 5, p. 806, doi. 10.1111/jpc.70026

By:

Minto, Nicole;
Tong, James

Publication type:

Article

Metagenomic interrogation of urban Superfund site reveals antimicrobial resistance reservoir and bioremediation potential.

Published in:

Journal of Applied Microbiology, 2025, v. 136, n. 4, p. 1, doi. 10.1093/jambio/lxaf076

By:

Kolokotronis, Sergios-Orestis;
Bhattacharya, Chandrima;
Panja, Rupobrata;
Quate, Ian;
Seibert, Matthew;
Jorgensen, Ellen;
Mason, Christopher E;
Hénaff, Elizabeth M

Publication type:

Article

Early‐onset muscle weakness syndrome (MW) in an Australian Holstein calf.

Published in:

Australian Veterinary Journal, 2025, v. 103, n. 5, p. 298, doi. 10.1111/avj.13431

By:

Ciacia, MG;
Phipps, AJ

Publication type:

Article

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Published in:

Annals of Hematology, 2025, v. 104, n. 4, p. 2537, doi. 10.1007/s00277-025-06266-5

By:

Rekaya, Samia;
Ben Fraj, Ilhem;
Hamdi, Rym;
Ben Taieb, Aicha;
Merdassi, Amani;
Jouini, Hamida;
Zarrouk, Hajer;
Zaiter, Ikram;
Kouki, Ridha;
Bejaoui, Mohamed;
Mellouli, Fethi;
Ben Khaled, Monia;
Ouederni, Monia

Publication type:

Article

Response of different cotton genotypes to salt stress and re-watering.

Published in:

BMC Plant Biology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12870-025-06534-6

By:

Zhao, Kang;
Yang, Tao;
Pang, Bo;
Wang, Honggang;
Yang, Zhining;
Liang, Weiwei;
Rui, Cun;
Gao, Wengwei

Publication type:

Article

Aseptic Pleocytosis Can Only be Classified as a Phenotypic Manifestation of MNGIE After Exclusion of all Differential Causes.

Published in:

2025

By:

Al-sahlawi, Zahra;
Redha, Noor Abdulla;
Hasan, Hasan

Publication type:

Letter

Genetic diseases.

Published in:: Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 1, p. s1285, doi. 10.1515/cclm-2025-8047
Publication type:: Article

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03679-3

By:

Giugliani, Roberto;
Solomon, Faryn;
Kushlaf, Hani;
Wright, Erica;
Haselkorn, Tmirah;
Zanoteli, Edmar;
Schoser, Benedikt

Publication type:

Article

Association between polymorphisms of the adenylate cyclase 3 gene rs2241759 and the effect of high-intensity interval training on blood lipid profiles.

Published in:

PeerJ, 2025, p. 1, doi. 10.7717/peerj.19271

By:

Lai, Junren;
Gong, Li;
Liu, Yan;
Li, Yanchun;
Ni, Jing;
Zhou, Duoqi

Publication type:

Article

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

Published in:

Brain Communications, 2025, v. 7, n. 2, p. 1, doi. 10.1093/braincomms/fcaf113

By:

D'Gama, Alissa M;
Phillips, H Westley;
Wang, Yilan;
Chiu, Michelle Y;
Chahine, Yasmine;
Swanson, Amanda C;
Smith, Richard S;
Pearl, Phillip L;
Tsuboyama, Melissa;
Madsen, Joseph R;
Lidov, Hart;
Lee, Eunjung Alice;
Prabhu, Sanjay P;
Huang, August Yue;
Stone, Scellig S D;
Walsh, Christopher A;
Poduri, Annapurna

Publication type:

Article