Works matching DE "GENETIC testing"

Results: 5000

Mind the gap! The potential role of direct-to-consumer genetic testing services in filling the birth family information gap for adopted adults.

Published in:

2025

By:

Golm, Dennis

Publication type:

Editorial

The use and impacts of direct-to-consumer genetic testing for adults with an adoption or out-of-home care experience: A scoping review.

Published in:

Adoption & Fostering, 2025, v. 49, n. 2, p. 227, doi. 10.1177/03085759251338318

By:

Conrick, Jeanette;
Prictor, Megan;
Zarine, Dilshad;
Hampson, Ralph

Publication type:

Article

Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.

Published in:

Journal of Otolaryngology -- Head & Neck Surgery, 2025, p. 1, doi. 10.1177/19160216251345471

By:

Elander, Johanna;
Ullmark, Tove;
Löwgren, Karolina;
Stenfeldt, Karin;
Falkenius-Schmidt, Karolina;
Löfgren, Maria;
Castiglione, Alessandro;
Busi, Micol;
Jonson, Tord;
Ivarsson, Sofie;
Ehrencrona, Hans;
Ehinger, Johannes K;
Värendh, Maria

Publication type:

Article

Novel GNB1 Variant and the Development of Spastic Diplegic Cerebral Palsy.

Published in:

Canadian Journal of Neurological Sciences, 2025, v. 52, n. 4, p. 727, doi. 10.1017/cjn.2024.318

By:

Piché, Johanie Victoria;
Shevell, Michael

Publication type:

Article

Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-09810-5

By:

Elmetnawy, Wafaa;
Nader, Heba;
ElNahas, Tamer;
Sabet, Salwa;
Bassiony, Heba;
ElNahass, Yasser

Publication type:

Article

Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula.

Published in:

2025

By:

Öztürk, Musa;
Tanrısever Türk, Merve;
Şimşek Kiper, Pelin Özlem;
Aykan, Hayrettin Hakan

Publication type:

Case Study

CHEK2 Mutation with Heterozygote c.592+3A>T Variant in a Patient with Early Breast and Papillary Thyroid Cancer.

Published in:

2025

By:

Caklili, Ozge Telci;
Metli, Kubra;
Basmaz, Seda Erem;
Kurt, Ayse Merve Ok;
Yesilyurt, Ahmet

Publication type:

Letter

X-Linked Hypophosphatemia with Whole Aspects.

Published in:

Endocrinology Research & Practice, 2025, v. 29, n. 3, p. 235, doi. 10.5152/erp.2025.24622

By:

Basmaci, Nergis;
Gürlek, Alper

Publication type:

Article

Case Report of Myoclonus‐Ataxia Syndrome in an Indian Patient Due to SCNA1 Gene Mutation.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 7, p. 995, doi. 10.1002/mdc3.70067

By:

Chouksey, Anjali

Publication type:

Article

Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA‐CESNE Cohort.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 7, p. 998, doi. 10.1002/mdc3.70064

By:

Bonato, Giulia;
Campagnolo, Marta;
Emmi, Aron;
Misenti, Valentina;
Carrer, Tommaso;
Fogliano, Carmelo;
Salviati, Leonardo;
Carecchio, Miryam;
Antonini, Angelo

Publication type:

Article

No Right to an Open Future.

Published in:

Journal of Applied Philosophy, 2025, v. 42, n. 3, p. 871, doi. 10.1111/japp.12790

By:

Millum, Joseph

Publication type:

Article

Estimating the Frequency of False‐Negative Pharmacogenetic Test Results by Self‐Reported Ancestry.

Published in:

Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 2, p. 331, doi. 10.1002/cpt.3697

By:

Siu, Weng‐Sam;
Maruf, Abdullah Al;
Shaheen, Sarker M.;
McCloud, Ryden;
Heintz, Madison;
McAusland, Laina;
Arnold, Paul D.;
Bousman, Chad A.

Publication type:

Article

Implementing Pre‐Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.

Published in:

Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 2, p. 438, doi. 10.1002/cpt.3685

By:

Bernsen, Emma C.;
Verwiel, Eugène T.P.;
van der Lee, Maaike;
Swen, Jesse J.;
Santoso, Marcel;
Brigitha, Leiah J.;
Admiraal, Rick;
Tops, Bastiaan B.J.;
Huitema, Alwin D.R.;
Kemmeren, Patrick;
Hehir‐Kwa, Jayne Y.;
Hanff, Lidwien M.;
Diekstra, Meta H.M.

Publication type:

Article

Muir-Torre syndrome: case report.

Published in:

Portuguese Journal of Dermatology & Venereology, 2025, v. 83, n. 2, p. 129, doi. 10.24875/PJDV.24000070

By:

Heitor, Joana;
Afonso, Ana R.;
Antunes, Catarina;
Correia, Sofia;
Lencastre, André

Publication type:

Article

OPPORTUNITIES FOR REVEALING GENETIC IDENTITY IN WILLOWS (SALIX SPP.) BY SEQUENCE-RELATED AMPLIFIED POLYMORPHISM (SRAP) MARKERS.

Published in:

Forest Science (0861-007X), 2024, v. 60, n. 3, p. 63

By:

Tsvetkov, Ivaylo;
Zagorcheva, Tzvetelina;
Gyuleva, Veselka;
Atanassov, Ivan

Publication type:

Article

Repeat miscarriages prompt research study.

Published in:

Medicus, 2025, p. 48

By:

Saxon, Martin

Publication type:

Article

It's 'genetic roulette' and Nigel Laing isn't playing.

Published in:

Medicus, 2025, p. 44

By:

Saxon, Martin

Publication type:

Article

Perth researchers develop genetic test to detect heart failure risk early.

Published in:: Medicus, 2025, p. 39
Publication type:: Article

Genetic screening and follow-up results in 3 001 newborns in the Yunnan region.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 6, p. 58, doi. 10.7499/j.issn.1008-8830.2412134

By:

LI Ao-Yu;
ZHU Bao-Sheng;
ZHANG Jin-Man;
CHAN Ying;
LIN Jun-Yue;
ZHANG Jie;
ZHOU Xiao-Yan;
CHEN Hong;
LI Su-Yun;
FENG Na;
ZHANG Yin-Hong

Publication type:

Article

Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 6, p. 40, doi. 10.7499/j.issn.1008-8830.2412119

By:

MEI Xin;
HE Xiao-Liang;
GAO Wei-Na;
WANG Meng-Yao;
SHEN Jing-Wen;
WEI Jing;
XUE Yun

Publication type:

Article

Identification of a large homozygous RNF216 deletion in a Chinese patient with gordon holmes syndrome.

Published in:

Neurological Sciences, 2025, v. 46, n. 8, p. 4001, doi. 10.1007/s10072-025-08169-9

By:

Wu, Binqian;
Duan, Ruijia;
Pi, Zixin;
Chen, Chunli;
Wang, Chunyu

Publication type:

Article

Clinical exome sequencing (carrier screening) identifies the gene INPPL1 in a sporadic case of opsismodysplasia.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, n. 1, p. 277, doi. 10.15584/ejcem.2025.1.32

By:

Ashish, Ashish;
Mishra, Shivani;
Singh, Royana;
Rai, Sangeeta

Publication type:

Article

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report.

Published in:

BMC Cardiovascular Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12872-025-04943-x

By:

Han, Yuanyuan;
Wang, Haiyang;
Zhang, Hongsheng;
Wang, Manman;
Gan, Lijun;
Meng, Fanhua

Publication type:

Article

Early onset obsessive-compulsive disorder in a patient with Huntington's disease – A case report.

Published in:

Indian Journal of Psychiatry, 2025, v. 67, n. 7, p. 735, doi. 10.4103/indianjpsychiatry_327_25

By:

Satija, Dhvani;
Upadhyay, Vivek Kumar;
Siddiqui, M Aleem

Publication type:

Article

Navigating diagnostic challenges in Xeroderma Pigmentosum variant type.

Published in:

Turkderm - Turkish Archives of Dermatology & Venereology, 2025, v. 59, n. 2, p. 63, doi. 10.4274/turkderm.galenos.2025.38093

By:

Saraç, Gonca;
Dicle, Özlem;
Alanay, Yasemin;
Demirkesen, Cuyan;
Şahin, Sedef

Publication type:

Article

news.

Published in:

Gastrointestinal Nursing, 2025, v. 23, n. 6, p. 228, doi. 10.12968/gasn.2025.0069

By:

McAlees, Melissa

Publication type:

Article

GBA1 variants and Parkinson’s Disease: A dual approach combining clinical data and literature review.

Published in:

Ege Journal of Medicine, 2025, v. 64, n. 2, p. 231, doi. 10.19161/etd.1583422

By:

Canbek, Sezin;
Mert, Goncagul;
Gulseven, M. Fatih;
Senol, M. Guney

Publication type:

Article

Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report.

Published in:

Hong Kong Physiotherapy Journal (World Scientific), 2025, v. 45, n. 1, p. 1, doi. 10.1142/S1013702525710015

By:

Razzaqi, Fatima;
Albastaki, Aysha;
Sinan, Israa

Publication type:

Article

KIF5Ap.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1499, doi. 10.1002/acn3.70059

By:

Manini, Arianna;
Vasta, Rosario;
Brusati, Alberto;
Scheveger, Francesco;
Peverelli, Silvia;
Maranzano, Alessio;
Doretti, Alberto;
Gentile, Francesco;
Colombo, Eleonora;
Brunetti, Maura;
Moglia, Cristina;
Canosa, Antonio;
Manera, Umberto;
Grassano, Maurizio;
Gentilini, Davide;
Messina, Stefano;
Verde, Federico;
Morelli, Claudia;
Landers, John E.;
Traynor, Bryan J.

Publication type:

Article

MicroRNA-27a gene polymorphism (rs895819) association with risk of pulmonary tuberculosis (PTB): A case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00750-3

By:

Arabshahi, Alireza;
Sabeti Akbar-Abad, Mahboobeh;
Alijani, Ebrahim;
Majidpour, Mahdi;
Ghasemi, Sepehr;
Mohammadghasemipour, Zahra;
Nikuei, Shahriyar;
Akhtar, Razieh;
Shahriari, Hossein

Publication type:

Article

Editorial: Progress in neuroacanthocytosis syndromes and related diseases including other bulk lipid transfer disorders.

Published in:

2025

By:

Danek, Adrian;
Hermann, Andreas;
Kaestner, Lars;
Masana, Mercè;
Peikert, Kevin;
Rodriguez, Manuel J.;
Walker, Ruth H.

Publication type:

Editorial

Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.

Published in:

Neurology & Therapy, 2025, v. 14, n. 4, p. 1729, doi. 10.1007/s40120-025-00787-x

By:

Xia, Yong;
Liu, Xiaoyan;
Cui, Wenjing;
Zhi, Qianna;
Sun, Yuyong

Publication type:

Article

HLA haplotype diversity, islet autoantibody status and discriminative ability of type 1 diabetes genetic risk score in Indians.

Published in:

Diabetic Medicine, 2025, v. 42, n. 8, p. 1, doi. 10.1111/dme.70041

By:

Sankareswaran, Alagu;
Kunte, Pooja;
Fraser, Diane P.;
Shaik, Mobeen;
Lavanuru, Dimple;
Weedon, Michael N.;
Oram, Richard A.;
Yajnik, Chittaranjan S.;
Chandak, Giriraj R.

Publication type:

Article

Thyroid Carcinoma in Birt–Hogg–Dubé Syndrome: Case Series and Review of Literature.

Published in:

Thyroid, 2025, v. 35, n. 7, p. 828, doi. 10.1089/thy.2024.0641

By:

Vaid, Sonal;
Chuki, Elias;
Veeraraghavan, Padmasree;
Jedlinski-Obrzut, Mikolaj;
Bukhari, Khulood;
Klubo-Gwiezdzinska, Joanna;
Gubbi, Sriram

Publication type:

Article

Intricate interactions between fine-scale genetic structure, lifestyle, and dietary habits in the Japanese population.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08479-w

By:

Chen, Yichi;
Katayama, Kotoe;
Ishida, Sachiko;
Imoto, Seiya

Publication type:

Article

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09632-6

By:

Liu, Zhen;
He, Mei;
Luo, Xuan;
Pan, Hu;
Hu, Juanli;
Wan, Zhengqing;
Peng, Yin;
Luo, Yixiao;
Wang, Hua;
Mao, Xiao

Publication type:

Article

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.

Published in:

2025

By:

Abdulghfar, Miral M.;
Alsagheir, Afaf;
Abdullah, Ismail A.;
Alhuthil, Raghad

Publication type:

Case Study

The impact of a mainstream genetic testing pathway and socioeconomic factors on the uptake of germline genetic testing in breast cancer patients: results of the nationwide GENE-SMART study.

Published in:

Breast Cancer Research, 2025, v. 27, n. 1, p. 1, doi. 10.1186/s13058-025-02081-y

By:

Jong, Chiem Leonardo de;
Siesling, Sabine;
Puts, Ghita Carola Wilhelmina Maria;
Jager, Agnes;
Ausems, Margreet Geertruda Elia Maria

Publication type:

Article

Phenotype to genotype: A new and rapid approach using whole-genome sequencing.

Published in:

PLoS Genetics, 2025, v. 21, n. 7, p. 1, doi. 10.1371/journal.pgen.1011702

By:

Feltes, McKenna;
Zimin, Aleksey V.;
Angel, Sofia;
Pansari, Nainika;
Hensley, Monica R.;
Anderson, Jennifer L.;
Shen, Meng-Chieh;
Klemek, Mackenzie;
Shen, Yi;
Ginde, Vighnesh S.;
Kozan, Hannah;
Le, Nhan V.;
Truong, Vivian P.;
Wilson, Meredith H.;
Salzberg, Steven L.;
Farber, Steven A.

Publication type:

Article

The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

Published in:

Cardiology in the Young, 2022, v. 32, n. 4, p. 550, doi. 10.1017/S1047951121002535

By:

Fick, Tyler A.;
Scott, Daryl A.;
Lupo, Philip J.;
Weigand, Justin;
Morris, Shaine A.

Publication type:

Article

SCAPER-NTRK2融合突变成人高级别星形细胞瘤 1 例报告并文献复习.

Published in:

Journal of Clinical Neurosurgery / Linchuang Shenjingwaike Zazhi, 2025, v. 22, n. 3, p. 356, doi. 10.3969/j.issn.167-7770.2025.03.022

By:

孙中钱;
申强;
常雷;
孟玮;
王全义;
张军臣

Publication type:

Article

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome.

Published in:

2025

By:

Roztoczyńska, Dorota;
Wędrychowicz, Anna;
Ossowska, Magdalena;
Furtak, Aleksandra;
Miśkiewicz-Stanek, Paulina;
Preizner-Rzucidło, Ewelina;
Kwinta-Rybicka, Joanna;
Jagła, Mateusz;
Starzyk, Jerzy B.;
Moschovi, Maria

Publication type:

Case Study

A Newly Documented Rare Case of Pachyonychia Congenita II in a Three‐Month‐Old Baby.

Published in:

2025

By:

Youness, Zeinab;
Hallal, Marwa;
Makhoul, Rita;
Bassukas, Ioannis D.

Publication type:

Case Study

Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 9, p. 1588, doi. 10.1177/10556656241266464

By:

Stanek, Krystof;
Wang, Alice T.;
Hseu, Anne F.;
Clark, Roseanne E.;
Meara, John G.;
Nuss, Roger C.;
Ganske, Ingrid M.;
Rogers-Vizena, Carolyn R.

Publication type:

Article

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1589182

By:

Onishi, Ayano;
Obata, Yoshinari;
Hayakawa, Tomoaki;
Fujiwara, Makoto;
Ohata, Yasuhisa;
Tamura, Yuri;
Kawata, Satoshi;
Mukai, Kosuke;
Miyashita, Kazuyuki;
Yamamoto, Kenichi;
Kubota, Takuo;
Fukuhara, Atsunori;
Shimomura, Iichiro

Publication type:

Article

Glomuvenous Malformations.

Published in:

Deutsches Ärzteblatt International, 2025, v. 122, n. 12, p. 327, doi. 10.3238/arztebl.m2025.0063

By:

Stock, F.;
Krüger, S.;
Lodde, G.

Publication type:

Article

Isolated aortic root dilatation – Expanding the cardiac phenotype of 22q11 deletion syndrome.

Published in:

2025

By:

Krishna, Mani Ram;
Sennaiyan, Usha Nandhini

Publication type:

Letter

A Frameshift Mutation of NLRP12 in a Patient With Chronic Recurrent Multifocal Osteomyelitis.

Published in:

Journal of Rheumatology, 2025, v. 52, n. 7, p. 735, doi. 10.3899/jrheum.2024-0874

By:

Koki Nakamura;
Hiroyuki Nakamura;
Masatoshi Kanda;
Hiroki Takahashi

Publication type:

Article

Ventricular Tachycardia Ablation in Patients With Severely Decreased Left Ventricular Ejection Fraction.

Published in:

Journal of Cardiovascular Electrophysiology, 2025, v. 36, n. 7, p. 1579, doi. 10.1111/jce.16694

By:

Ghannam, Michael;
Christian‐Miller, Nathanial;
Liang, Jackson;
Deshmukh, Amrish;
Arps, Kelly;
Latchamsetty, Rakesh;
Crawford, Thomas;
Jongnarangsin, Krit;
Oral, Hakan;
Morady, Fred;
Bogun, Frank

Publication type:

Article

Association of Pharmacogenotyping and Patient-Reported Outcomes in Chronic Pain Management.

Published in:

Health Services Insights, 2025, p. 1, doi. 10.1177/11786329251356560

By:

Bollinger, Anna;
Hersberger, Kurt E.;
Gianora, Julia;
Urdieux, Isabelle O.;
Meyer zu Schwabedissen, Henriette E.;
Rommers, Nikki;
Schwenkglenks, Matthias;
Stäuble, Céline K.;
Allemann, Samuel S.

Publication type:

Article