Works matching DE "GENETIC testing

Results: 5000

Life After BRCA1/2 Testing: Family Communication and Support Issues.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 127

By:

Peshkin, Beth N.;
DeMarco, Tiffani A.;
McKinnon, Wendy C.

Publication type:

Article

A Principle-Based Approach to Ethical Issues in Predictive Genetic Testing for Breast Cancer.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 137

By:

Peshkin, Beth N.;
Quillin, John M.;
Lyckholm, Laurie J.

Publication type:

Article

PSY‐PGx: a new intervention for the implementation of pharmacogenetics in psychiatry.

Published in:

World Psychiatry, 2025, v. 24, n. 1, p. 141, doi. 10.1002/wps.21289

By:

van Westrhenen, Roos;
Young, Allan H.;
Heilbronner, Urs;
Juruena, Mario;
Ingelman‐Sundberg, Magnus;
Jukic, Marin;
Kaprio, Jaakko;
Kas, Martien J.H.;
Moldovan, Ramona;
Nöthen, Markus M.;
Philipsen, Alexandra;
Shomron, Noam;
Van der Eycken, Erik;
Vieta, Eduard;
Schulze, Thomas G.

Publication type:

Article

Dementia risk prediction in early Parkinson's disease: Validation and genetic integration of the Montreal Parkinson risk of dementia scale (MoPaRDS).

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 4, p. 868, doi. 10.1177/1877718X251329857

By:

Szwedo, Aleksandra A;
Dalen, Ingvild;
Lawson, Rachael A;
Yarnall, Alison J;
Pedersen, Kenn Freddy;
Macleod, Angus D;
Counsell, Carl E;
Bäckström, David;
Forsgren, Lars;
Camacho, Marta;
Williams-Gray, Caroline H;
Tysnes, Ole-Bjørn;
Alves, Guido;
Maple-Grødem, Jodi

Publication type:

Article

Investigating the prevalence of the G2019S mutation in Parkinson's disease among a Libyan population.

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 3, p. 664, doi. 10.1177/1877718X251324407

By:

Awayn, Nuri H;
Hashish, Sara A;
Salem, Sultan A;
Abod, Sulieman;
Elgahmasi, Sana M;
Ouararhni, Khalid;
Abdesselem, Houari;
Abdi, Ilham Y;
El-Agnaf, Omar A

Publication type:

Article

Jellinger K, "Parkinson's Disease and Dementia with Lewy Bodies: One and the Same".

Published in:

Journal of Parkinson's Disease, 2024, v. 14, n. 5, p. 1073, doi. 10.3233/JPD-249008

By:

Borghammer, Per;
Okkels, Niels;
Weintraub, Daniel

Publication type:

Article

Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.

Published in:

Journal of Parkinson's Disease, 2022, v. 12, n. 6, p. 1917, doi. 10.3233/JPD-223337

By:

Li, Chunyu;
Ou, Ruwei;
Hou, Yanbing;
Chen, Yongping;
Wei, Qianqian;
Zhang, Lingyu;
Lin, Junyu;
Liu, Kuncheng;
Huang, Jingxuan;
Chen, Xueping;
Song, Wei;
Zhao, Bi;
Wu, Ying;
Shang, Huifang

Publication type:

Article

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Published in:

Journal of Parkinson's Disease, 2022, v. 12, n. 6, p. 1703, doi. 10.3233/JPD-212986

By:

Salles, Philippe A.;
Liao, James;
Shuaib, Umar;
Mata, Ignacio F.;
Fernandez, Hubert H.

Publication type:

Article

A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design.

Published in:

Journal of Parkinson's Disease, 2020, v. 10, n. 3, p. 1195, doi. 10.3233/JPD-202019

By:

Schneider, Ruth B.;
Myers, Taylor L.;
Rowbotham, Helen M.;
Luff, Marie K.;
Amodeo, Katherine;
Sharma, Saloni;
Wilson, Renee;
Jensen-Roberts, Stella;
Auinger, Peggy;
McDermott, Michael P.;
Alcalay, Roy N.;
Biglan, Kevin;
Kinel, Daniel;
Tanner, Caroline;
Winter-Evans, Reni;
Augustine, Erika F.;
Cannon, Paul;
Holloway, Robert G.;
Dorsey, E. Ray

Publication type:

Article

Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review.

Published in:

Journal of Parkinson's Disease, 2015, v. 5, n. 2, p. 209, doi. 10.3233/JPD-140507

By:

Gasser, Thomas

Publication type:

Article

CHD2‐related epilepsy with eyelid myoclonia: Report of three cases.

Published in:

Epileptic Disorders, 2025, v. 27, n. 1, p. 90, doi. 10.1002/epd2.20305

By:

Padilla, Hannah;
Pinto e Vairo, Filippo;
Wirrell, Elaine C.;
Wong‐Kisiel, Lily C.;
Fine, Anthony L.;
Lanpher, Brendan C.;
Smith, Kelsey M.

Publication type:

Article

The role of genetic testing in adult patients with unexplained epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 814, doi. 10.1002/epd2.20286

By:

Chung, Chi‐Ting;
Lee, Ni‐Chung;
Lin, I‐Ting;
Chen, Pin‐Yu;
Jao, Tun

Publication type:

Article

Diagnostic evaluation of patients with epileptic spasms in the era of next‐generation sequencing.

Published in:

Epileptic Disorders, 2024, v. 26, n. 5, p. 651, doi. 10.1002/epd2.20259

By:

Mir, Ali;
AlQahtani, Mohammed;
Amer, Fawzia;
AlBaradie, Raidah;
AlOtaibi, Wajd;
AlGhamdi, Fouad;
Khallaf, Hamoud;
Bashir, Shahid;
Costain, Gregory;
Aljouda, Liali;
Housawi, Yousef

Publication type:

Article

A retrospective study of the yield of next‐generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India

Published in:

Epileptic Disorders, 2024, v. 26, n. 5, p. 609, doi. 10.1002/epd2.20254

By:

Murthy, Manasa C.;
Banerjee, Bidisha;
Shetty, Mitesh;
Mariappan, Manikandan;
Sekhsaria, Akansha

Publication type:

Article

Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis.

Published in:

Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2025, v. 29, n. 6, p. 321, doi. 10.14744/AnatolJCardiol.2025.4903

By:

Mutlu, Hatice;
Kayıhan, Can;
Ay, Arzu;
Havan, Merve;
Ramoğlu, Mehmet Gökhan;
Uçar, Tayfun;
Kendirli, Tanıl

Publication type:

Article

Histopathologic and genetic distinction of well-differentiated grade 3 neuroendocrine tumor versus poorly-differentiated neuroendocrine carcinoma in high-grade neuroendocrine neoplasms.

Published in:

American Journal of Clinical Pathology, 2025, v. 163, n. 6, p. 804, doi. 10.1093/ajcp/aqaf013

By:

Sun, Belinda L;
Ding, Hongxu;
Sun, Xiaoguang

Publication type:

Article

Interpretación de pruebas genéticas y biomarcadores en la distrofia muscular de Duchenne.

Published in:

Revista Ciencias de la Salud, 2025, v. 23, p. 1, doi. 10.12804/revistas.urosario.edu.co/revsalud/a.13656

By:

Rivera-Nieto, Carolina;
Suárez-Obando, Fernando;
Barajas-Viracachá, Norma Carolina;
Becerra-Ortiz, Paulo César;
Bobadilla-Quesada, Edna Julieth;
Bolaños-Almeida, Carlos Ernesto;
Cañón-Zambrano, José Manuel;
Castellar-Leones, Sandra Milena;
Huertas-Quiñones, Manuel;
Jurado-Hernández, Jenny Libeth;
Lasprilla-Tovar, Juan David;
Laza-Gutiérrez, Nicolás J.;
Londoño Ossa, Isabel C.;
Nossa Almanza, Sergio Alejandro;
Ortiz-Giraldo, Blair;
Ortiz-Corredor, Fernando;
Ospina-Lagos, Sandra Janeth;
Prieto, Juan Carlos;
Ruiz-Ospina, Edicson;
Ruiz-Botero, Felipe

Publication type:

Article

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Published in:

Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1225, doi. 10.1093/ndt/gfae270

By:

Haan, Amber de;
Eijgelsheim, Mark;
Vogt, Liffert;
Hoorn, Ewout J;
Rotmans, Joris I;
Fortrie, Gijs;
Marsman, Roos F J;
Rothuizen, Tonia C;
Spijker, H Siebe;
Claus, Laura R;
Konings, Constantijn J A M;
Waanders, Femke;
Doornebal, Joan;
Kramer, Andrea B;
Adema, Aaltje Y;
van der Zwaag, Bert;
Eerde, Albertien M van;
Knoers, Nine V A M;
Borst, Martin H de

Publication type:

Article

A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.

Published in:

Neuroendocrinology, 2025, v. 115, n. 5, p. 381, doi. 10.1159/000542223

By:

Tsoy, Uliana A.;
Sokolnikova, Polina S.;
Kravchuk, Ekaterina N.;
Ryazanov, Pavel A.;
Kozyreva, Alexandra A.;
Fomicheva, Yulia V.;
Aramisova, Liana S.;
Karonova, Tatiana L.;
Kostareva, Anna A.;
Grineva, Elena

Publication type:

Article

General dermatology.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1268, doi. 10.1093/ced/llaf091

By:

Orr, Emily;
Stefanovic, Nicholas;
Watchorn, Richard

Publication type:

Article

General dermatology and dermatology in primary health care.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1270, doi. 10.1093/ced/llaf058

By:

Hanley, Geoffrey;
Conroy, Keavy;
Eustace, Karen

Publication type:

Article

A rare presentation of high-grade serous ovarian carcinoma with ulcerating inguinal lymph node metastasis: a case report.

Published in:

2025

By:

Latifah, Hassan M;
Almarzugi, Ruzanah;
Bitar, Hussam;
Alyafi, Mohammad;
Abumohssin, Abdulmalik;
Almansouri, Zuhoor;
Kabli, Batool Abdulaziz;
Shafi, Nusaybah A;
Baradwan, Saeed

Publication type:

Case Study

3 Things You Should Know About Targeting NRG1 and Rare Drivers in Pancreatic Cancer.

Published in:

Oncology (08909091), 2025, v. 39, n. 5, p. 204

By:

Chiorean, E. Gabriela;
Ahn, Daniel H.;
Weinberg, Benjamin A.

Publication type:

Article

Genetics Corner: Minireview: Fractures in the Extremely Premature infant: Distinguishing Metabolic Bone Disease of Prematurity versus Osteogenesis Imperfecta.

Published in:

Neonatology Today, 2025, v. 20, n. 5, p. 181

By:

Hua Wang

Publication type:

Article

A simple and quantitative ultrasonographic screening method for fetal Sylvian fissure abnormalities.

Published in:

European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02708-y

By:

Guo, Cuixia;
Sun, Lijuan;
Liu, Yan;
Zhang, Tiejuan;
Wang, Li;
Liang, Yuting;
Wang, Jingjing;
Wu, Qingqing

Publication type:

Article

Massive paraganglioma masquerading as ovarian tumor: a unique case of paraganglioma of undetermined genetic origin.

Published in:

Baylor University Medical Center Proceedings, 2025, v. 38, n. 4, p. 555, doi. 10.1080/08998280.2024.2448639

By:

Gibb, Oliver;
Lucas, Jacob W.;
Deshpande, Sujay;
Edwards, Daniel C.

Publication type:

Article

Ilizarov-assisted periosteal distraction for refractory arteriovenous malformation ulcers: first clinical report in Asia.

Published in:

Hereditas, 2025, v. 162, n. 1, p. 1, doi. 10.1186/s41065-025-00479-4

By:

Wu, Xiangyi;
Cai, Ren;
Ye, Mao;
Yang, Xitao;
Sun, Dachuan;
Han, Yifeng;
Fan, Xindong;
Zhu, Jiaxue

Publication type:

Article

Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest.

Published in:

Egyptian Journal of Forensic Sciences, 2025, v. 15, n. 1, p. 1, doi. 10.1186/s41935-025-00461-1

By:

Vodnjov, Nina;
Maver, Aleš;
Petelin, Borut;
Writzl, Karin

Publication type:

Article

Neonatal hereditary spherocytosis: a case report.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02049-w

By:

Coramusi, Carolina;
Lucangeli, Natalia;
Vadalà, Sarah;
Parisi, Pasquale;
Scapillati, Maria Eleonora

Publication type:

Article

Genomic Medicine: Applications in Disease Prevention and Treatment.

Published in:

Journal of Pharmacy & Bioallied Sciences, 2025, v. 17, p. S1101, doi. 10.4103/jpbs.jpbs_541_25

By:

Patel, Harshkumar N.;
Patel, Nilam Hardik;
Mathukiya, Sanket;
Parekh, Bhavya Rajeshkumar;
Purohit, Kevin Ashokbhai;
Patel, Sahil Purushottambhai;
Patel, Jitendra

Publication type:

Article

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1118, doi. 10.1002/acn3.70016

By:

Cuillerier, Alexanne;
Del Gobbo, Giulia F.;
Mackay, Layla;
Wall, Erika;
Couse, Madeline;
McDonell, Laura M.;
Cloutier, Mireille;
Danzi, Matt C.;
Warman‐Chardon, Jodi;
Bourque, Pierre R.;
Suchowersky, Oksana;
Mears, Alan;
Seldenthuis, Luke;
Mears, Wendy;
Larrigan, Laura;
White‐Brown, Alexandre;
Pfeffer, Gerald;
Bulman, Dennis E.;
Dyment, David;
Boycott, Kym M.

Publication type:

Article

Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.

Published in:

Ophthalmic Surgery, Lasers & Imaging Retina, 2025, v. 56, n. 6, p. 368, doi. 10.3928/23258160-20250228-02

By:

Hucko, Lauren N.;
da Cruz, Natasha F. S.;
Kemp, Pavlina S.;
Mendoza-Santiesteban, Carlos E.;
Berrocal, Audina M.

Publication type:

Article

SOX2 Variant Resulting in Hypogonadotropic Hypogonadism, Learning Difficulties, and Ear (Rather Than Eye) Anomalies Open Access.

Published in:

2025

By:

Cher, Wen Qi;
Chan, Daniel

Publication type:

Case Study

The clinical application and challenges of preimplantation genetic testing.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1599088

By:

Zhou, Fan;
Chen, Xinlian;
Liu, Shanling;
Wang, Xiaodong

Publication type:

Article

Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.

Published in:

Human Genetics, 2025, v. 144, n. 6, p. 633, doi. 10.1007/s00439-025-02748-8

By:

More, Tejashree Anil;
Kedar, Prabhakar

Publication type:

Article

Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature.

Published in:

Human Genetics, 2025, v. 144, n. 6, p. 595, doi. 10.1007/s00439-025-02746-w

By:

Avsec, Eva;
Blatnik, Ana;
Krajc, Mateja

Publication type:

Article

Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.

Published in:

Human Genetics, 2025, v. 144, n. 6, p. 605, doi. 10.1007/s00439-025-02743-z

By:

Manders, Toby R.;
Tan, Christopher A.;
Kobayashi, Yuya;
Wahl, Alexander;
Araya, Carlos;
Colavin, Alexandre;
Facio, Flavia M.;
Metz, Hillery;
Reuter, Jason;
Frésard, Laure;
Padigepati, Samskruthi R.;
Stafford, David A.;
Nussbaum, Robert L.;
Nykamp, Keith

Publication type:

Article

Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1584817

By:

Alhumaidi, Suzan Suliman;
Algaeed, Fahad Abdulrahman;
Aladhadh, Meshari Fayez;
Alkaff, Sara Abdulrahman

Publication type:

Article

Coronoidectomy for Alleviating Restricted Mouth Opening in Masticatory Muscle Tendon‐Aponeurosis Hyperplasia: Integration With Genetic Mutation Analysis.

Published in:

Case Reports in Dentistry, 2025, v. 2025, p. 1, doi. 10.1155/crid/5591642

By:

Zhang, Hongrong;
Wang, Weihong;
Wen, Liang;
Wesley, Hannah

Publication type:

Article

Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers.

Published in:

2025

By:

Tayade, Kamalesh;
Ghadi, Vishakha;
Asole, Dynaneshwar;
Bharote, Haresh;
Venkatachalam, Anil

Publication type:

Letter

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 353, doi. 10.4103/aian.aian_1068_24

By:

Özdemir, Taha Reşid;
Gençpınar, Pınar;
Sarıteke, Roza;
Dagdas, Safa M;
Haspolat, Senay;
Tiftikcioglu, Bedile I;
Dündar, Nihal Olgaç;
Özyılmaz, Berk

Publication type:

Article

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02024-5

By:

Florio, Caterina Angela;
Mirabella, Federica;
Prato, Adriana;
Longhitano, Andrea;
Barone, Rita;
Rizzo, Renata

Publication type:

Article

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02031-6

By:

Noureldeen, Mahmoud M.;
Zaki, Maha S.;
Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Salem, Aida M. S.

Publication type:

Article

Erratum.

Published in:: 2025
Publication type:: Correction Notice

Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 202, doi. 10.1159/000540518

By:

Chen, Zhi-Xiao;
Liu, Rong-Huo;
Huang, Jian-Cheng;
Mo, Jia-Min;
Zeng, Yan-Qing;
Huang, Yu-Chan;
Yang, Li-Ye

Publication type:

Article

A Novel c.459_460insC Variation in the XK Gene Associated with McLeod Syndrome.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 211, doi. 10.1159/000539875

By:

Zhang, Bing;
Yu, Shifang;
Hong, Xiaozhen;
Xu, Xianguo;
Zhu, Faming

Publication type:

Article

Assessment of Nucleic Acid Quality in Unstained Cytology Specimens for Cancer Genomic Testing.

Published in:

Acta Cytologica, 2025, v. 69, n. 3, p. 304, doi. 10.1159/000545423

By:

Niimi, Hiroya;
Onishi, Takafumi;
Nomura, Shoma;
Kumazaki, Aya;
Masaki, Yuto;
Odashima, Hirokazu;
Osawa, Yukihiko;
Hattori, Manabu

Publication type:

Article

Second-Line Treatment Strategies for Right-Sided, RAS/RAF Wild-Type Colorectal Cancer.

Published in:

JAMA Network Open, 2025, v. 8, n. 6, p. e2515087, doi. 10.1001/jamanetworkopen.2025.15087

By:

Swami, Nishwant;
Hwang, Wei-Ting;
Mamtani, Ronac;
O'Hara, Mark H.;
Chapin, William J.

Publication type:

Article

Duchenne muscular dystrophy patients diagnosed at the asymptomatic stage: What are the benefits of early diagnosis?

Published in:

Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2025, v. 71, n. 2, p. 199, doi. 10.5606/tftrd.2024.15025

By:

Sertpoyraz, Filiz Meryem;
Tanıgör, Göksel;
Baydan, Figen;
Kale, Murat Yıldırım

Publication type:

Article

A multi-omics and mediation-based genetic screening approach identifies STX4 as a key link between epigenetic regulation, immune cells, and childhood asthma.

Published in:

Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01908-x

By:

Zhang, Yuan;
Du, Xiaochen;
Yang, Yujuan;
Ren, Yaqiong;
Zhou, Lijun;
Hua, Jun;
Wang, Hongying

Publication type:

Article