Works matching DE "GENETIC testing"

Results: 5000

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

Published in:

2025

By:

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

Publication type:

Letter

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

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

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

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

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

Multiple Chemical Sensitivity and the SLC Gene Superfamily: A Case–Control Study.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6484, doi. 10.3390/ijms26136484

By:

Alcorta, Esther;
Gomez-Diaz, Carolina

Publication type:

Article

Serological, Genetic, and Biochemical Insights into Celiac Disease Diagnosis and Vitamin D Deficiency in Romanian Children: A Comprehensive Cohort Study.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6251, doi. 10.3390/ijms26136251

By:

Pavelescu, Luciana Alexandra;
Sabau, Ileana Delia;
Sanda-Dira, Gabriela;
Iacata, Alexandra Antonela;
Curici, Antoanela

Publication type:

Article

The Perioperative Biochemical and Clinical Considerations of Pheochromocytoma Management.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6080, doi. 10.3390/ijms26136080

By:

Gombert, Alexa J.;
Nerantzinis, Alexandra M.;
Li, Jennifer;
Wang, Weidong;
Yeung, Isaac Y.;
Costa, Ana;
Bergese, Sergio D.

Publication type:

Article

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 5928, doi. 10.3390/ijms26135928

By:

Vietri, Maria Teresa;
Della Pepa, Chiara;
Caliendo, Gemma;
Mignano, Alessia;
Albanese, Luisa;
Zitiello, Marialaura;
Stilo, Marianna;
Molinari, Anna Maria

Publication type:

Article

The application of tumor origin genetic testing in differential diagnosis of breast metaplastic carcinoma.

Published in:

CytoJournal, 2025, v. 22, p. 1, doi. 10.25259/Cytojournal_176_2024

By:

Ren, Beibei;
Zhang, Bing;
Jiang, Xiangnan;
Zhang, He;
Xia, Qingxin

Publication type:

Article

Organizacija in analiza obravnav genomskih informatorjev na Onkološkem inštitutu Ljubljana v letu 2023.

Published in:

Onkologija, 2024, v. 28, n. 2, p. 22, doi. 10.25670/oi2024-014on

By:

Romana, Krivec Matijašič;
Tina, Kerševan;
Mateja, Krajc

Publication type:

Article

Kaskadno genetsko testiranje v družinah s sindromom Lynch.

Published in:

Onkologija, 2024, v. 28, n. 2, p. 16, doi. 10.25670/oi2024-013on

By:

Lidija, Praprotnik;
Simona, Hotujec;
Barbara, Stojanov;
Mateja, Krajc

Publication type:

Article

Analiza obravnav na Oddelku za onkološko klinično genetiko po posamezni lokaciji raka in pomen genetskih izvidov pri načrtovanju zdravljenja.

Published in:

Onkologija, 2024, v. 28, n. 2, p. 6, doi. 10.25670/oi2024-012on

By:

Nina, Zavrl;
Simona, Hotujec;
Srdjan, Novaković;
Vida, Stegel;
Mateja, Krajc

Publication type:

Article

Rak neznanega izvora: nas izvor bolezni še zanima?

Published in:

Onkologija, 2024, v. 28, n. 1, p. 62, doi. 10.25670/oi2024-007on

By:

Erika, Matos;
Snežana, Đokić;
Srdjan, Novaković;
Marina, Čakš;
Rok, Devjak;
Nežka, Hribernik;
Kaja, Cankar

Publication type:

Article

Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 13, p. 1606, doi. 10.3390/diagnostics15131606

By:

Thi Pham, Xuan Trang;
Nguyen, Phuc Nhon;
Hoang, Xuan Song

Publication type:

Article

Brittle Cornea Syndrome: Molecular Diagnosis and Management.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 13, p. 1596, doi. 10.3390/diagnostics15131596

By:

Zeppieri, Marco;
Gentile, Mattia;
Acquaviva, Antonio;
Scollo, Davide;
D'Esposito, Fabiana;
Gagliano, Giuseppe;
Avitabile, Alessandro;
Gagliano, Caterina;
Lapenna, Lucia

Publication type:

Article

Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1557341

By:

Sharaf, Baha;
Bani Hani, Hira;
Zayed, Anas;
Barbar, Maha;
Khater, Suhaib;
Hushki, Ahmad;
Abdel-Razeq, Rashid;
Titi, Mohammad;
Al-Halalsheh, Reem;
Mahafdah, Suleiman;
Ashour, Lin;
Abdel-Razeq, Hikmat

Publication type:

Article

Regional network covariance patterns of white matter integrity related to cardiorespiratory fitness in healthy aging.

Published in:

Frontiers in Aging Neuroscience, 2025, p. 1, doi. 10.3389/fnagi.2025.1542458

By:

Smith, Samantha G.;
Bharadwaj, Pradyumna K.;
Raichlen, David A.;
Grilli, Matthew D.;
Andrews-Hanna, Jessica R.;
Hishaw, Georg A.;
Huentelman, Matthew J.;
Trouard, Theodore P.;
Alexander, Gene E.

Publication type:

Article

Thalassemia in Bangladesh: progress, challenges, and a strategic blueprint for prevention.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03744-x

By:

Hossain, Mohammad Sorowar;
Islam, Farhin;
Akhter, Selina;
Al Mossabbir, Abdullah

Publication type:

Article

Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome.

Published in:

Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1607003

By:

Querter, Ilya;
Schuermans, Nika;
Van de Velde, Nele;
Geleyn, Cisse;
Dheedene, Annelies;
Audenaert, Kurt;
Baeken, Chris;
Callewaert, Bert;
Lemmens, Gilbert

Publication type:

Article

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 8, p. 682, doi. 10.1111/jir.13247

By:

Rogers, Dante J.;
Hudock, Rebekah L.;
Dimian, Adele F.;
Collazo‐Lopez, Josue;
Shanley, Ryan;
Pierpont, Elizabeth I.

Publication type:

Article

The Role of Pulmonary Genetic Variations in the Pathogenesis of Pediatric Postinfectious Bronchiolitis Obliterans.

Published in:

Thoracic Research & Practice, 2025, v. 26, n. 4, p. 191, doi. 10.4274/ThoracResPract.2025.2024-11-1

By:

Tongal, Sedef Narin;
Kayhan, Gülsüm;
Yılmaz, Özge;
Öçalan, Merve;
Yüksel, Hasan

Publication type:

Article

P.083 A novel mutation in YARS2 gene in a patient with MLASA.

Published in:

2025

By:

Eisenkoelbl, A;
Carter, M;
McMillan, H

Publication type:

Abstract

P.076 3-year Clinical Lessons Learned from the Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS).

Published in:

2025

By:

Mah, JK;
Price, TR;
Crone, M;
Kolski, H;
Niri, F

Publication type:

Abstract

P.071 The value of genetics, biopsy and EMG in diagnosing congenital myopathies.

Published in:

2025

By:

Hui, ER;
Eisenkoelbl, A;
Hill-Smith, E;
Rodrigue, M;
Aleman, A;
Lochmueller, H;
Yaworski, A;
McMillan, H

Publication type:

Abstract

P.059 Exome-based testing for seizure indications captures a broader range of diagnostic genes and more diagnostic variants than provincially-funded epilepsy panels.

Published in:

2025

By:

Morrow, MM;
Napier, MP;
O'Higgins, S;
Waltho, S;
McWalter, K

Publication type:

Abstract

Hereditary Pyropoikilocytosis--a Frequently Fatal Prenatal Blood Disorder.

Published in:

Deutsches Ärzteblatt International, 2025, v. 122, n. 11, p. 297, doi. 10.3238/arztebl.m2025.0062

By:

Ebrahimi-Fakhari, D.;
Rössig, C.;
Groll, A. H.

Publication type:

Article

Clinical Presentation and Diagnosis of Smith-Lemli-Opitz Syndrome: First Case Report from Sudan.

Published in:

Sudan Journal of Medical Sciences, 2025, v. 20, n. 2, p. 224, doi. 10.18502/sjms.v20i2.17380

By:

Khalid, Rayan;
Omer, Dalia;
Alsheikh, Tarig;
Fadl-Elmula, Imad

Publication type:

Article

Prompt distinction of Alagille syndrome and biliary Atresia in infants: a comparative study.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05896-y

By:

Zhou, Shu-yan;
Zhan, Xue;
Li, Shu-yuan

Publication type:

Article

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-07906-6

By:

Yao, Xiu-juan;
Lin, Ying;
Zou, Jing;
Cai, Zun-lin;
Xu, Zi-Yan;
Li, Xiao-qin;
Chen, Qian;
Yu, Hong-ping;
Zhang, Jian-hui;
Ruan, Dan-dan;
Gao, Mei-zhu;
Zhang, Li;
Luo, Jie-wei;
Xie, Bao-song

Publication type:

Article

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1595505

By:

Guo, Liqi;
Wu, Fangrui;
Wang, Yuxi;
Xiong, Xiaoping;
Zhong, Min

Publication type:

Article

Activated Protein C Resistance Testing: An Update From Australasia/Asia‐Pacific.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 4, p. 720, doi. 10.1111/ijlh.14447

By:

Favaloro, Emmanuel J.;
Arunachalam, Sandya;
Dean, Elysse;
Salwa, Mahzuza;
Ahuja, Monica;
Connelly, Lynne;
Chapman, Kent;
Vong, Ronny;
Pasalic, Leonardo

Publication type:

Article

Molecular study of celiac patient in Basrah Province.

Published in:

Romanian Journal of Medical Practice, 2025, v. 20, n. 1, p. 15, doi. 10.37897/RJMP.2025.1.2

By:

OTHAFA, Duaa Faiz;
MAHDI, Dawood. S.;
Al-SAIMARY, Ihsan Edan

Publication type:

Article

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1611388

By:

Guo, Yun;
Xin, Xiaoqin;
Zhou, Linju;
Huang, Jungao

Publication type:

Article

Unveiling the Genetic Foundations of Heart Failure: Exploring Genomic Perspectives.

Published in:

Research in Cardiovascular Medicine, 2025, v. 14, n. 2, p. 55, doi. 10.4103/rcm.rcm_20_24

By:

Elsaka, Omar

Publication type:

Article