Works matching DE "GENETIC testing"

Results: 5000

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

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

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

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

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

Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta‐Thalassemia—A Case Report.

Published in:

2025

By:

Minhas, Aiman Mahmood;
Eiman, Hadia;
Iqbal, Javed;
Imran, Ayisha;
Chughtai, A. S.;
Piccaluga, Pier Paolo

Publication type:

Case Study

우리나라 췌장암 현황과 췌장암의 임상적 특징.

Published in:

Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2025, v. 68, n. 6, p. 350, doi. 10.5124/jkma.25.0071

By:

Park, Joon Seong

Publication type:

Article

Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 4, p. 412, doi. 10.5152/TurkArchPediatr.2025.25129

By:

Tunce, Eray;
Turunç, Salih;
Uçar, Sıla Atamyıldız;
Sözeri, Betül

Publication type:

Article

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis.

Published in:

Veterinary Dermatology, 2025, v. 36, n. 3, p. 314, doi. 10.1111/vde.13341

By:

Rietmann, Stefan J.;
Clegg, Jennifer L.;
Jagannathan, Vidhya;
Wiener, Dominique J.;
Kallenberg, Angelica;
Grahn, Robert A.;
Souza, Clarissa P.;
Leeb, Tosso

Publication type:

Article

A novel BLK heterozygous mutation (p.Met121lle) in maturity‐onset diabetes mellitus: A case report and literature review.

Published in:

Diabetic Medicine, 2025, v. 42, n. 6, p. 1, doi. 10.1111/dme.15491

By:

Xu, Fenjuan;
Chen, Xiaoting;
Hu, Tingting;
Sun, Ruqiong;
Zhu, Fangying;
Wu, Xiaohong

Publication type:

Article

Part II: consensus statements and expert recommendations for BRCA-associated breast cancer in the Asia-Pacific region: clinical management.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1507840

By:

Park, Yeon Hee;
Lee, Soo Chin;
Singer, Christian F.;
Balmaña, Judith;
Dent, Rebecca Alexandra;
Tan, Veronique Kiak-Mien;
Mulansari, Nadia Ayu;
Yusof, Mastura Md.;
Que, Frances Victoria F.;
Lu, Yen-Shen;
Parinyanitikul, Napa;
Pham, Cam Phuong;
Taib, Nur Aishah;
Kong, Sun-Young;
Antill, Yoland;
Kim, Hee Jeong

Publication type:

Article

Part I: consensus statements and expert recommendations for HER2 -negative early breast cancer in the Asia-Pacific region: diagnosis and risk assessment.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1507836

By:

Lee, Soo Chin;
Park, Yeon Hee;
Singer, Christian F.;
Balmaña, Judith;
Dent, Rebecca Alexandra;
Tan, Veronique Kiak-Mien;
Mulansari, Nadia Ayu;
Yusof, Mastura Md;
Que, Frances Victoria F.;
Lu, Yen-Shen;
Parinyanitikul, Napa;
Pham, Cam Phuong;
Taib, Nur Aishah;
Kong, Sun-Young;
Antill, Yoland;
Kim, Hee Jeong

Publication type:

Article

Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1601752

By:

Merida De la Torre, Francisco Javier;
Porta Pelayo, Javier;
Ortiz-Martín, Inmaculada

Publication type:

Article

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574381

By:

Sciacco, Monica;
Lucchiari, Sabrina;
Bertolasi, Letizia;
Comi, Giacomo Pietro;
Corti, Stefania;
Ronchi, Dario

Publication type:

Article

Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02067-8

By:

Tian, Anran;
Li, Sujuan;
Liang, Furong;
Yao, Minglan;
Mostafavi, Niusha;
Li, Yingying;
Luo, Xiaoping;
Zhang, Cai

Publication type:

Article

Transferable approaches to CRISPR-Cas9 induced genome editing in non-model insects: a brief guide.

Published in:

Frontiers in Zoology, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12983-025-00566-2

By:

Ahmed, Hassan M. M.;
Zheng, Lisha;
Hunnekuhl, Vera S.

Publication type:

Article

A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.

Published in:

2025

By:

Harh, Seba;
Shahoud, Shaza;
Daher, Shady;
Alasmar, Diana

Publication type:

Case Study

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Published in:

Clinical Genetics, 2025, v. 108, n. 1, p. 102, doi. 10.1111/cge.14717

By:

Huber, Leah M.;
Subaşıoğlu, Aslı;
Garczarczyk‐Asim, Dorota;
Valovka, Taras;
Müller, Thomas;
Adam, Rüdiger;
Janecke, Andreas R.

Publication type:

Article

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

Published in:

Clinical Genetics, 2025, v. 108, n. 1, p. 96, doi. 10.1111/cge.14716

By:

Zhao, Zi‐Xi;
Zhou, Jing‐Lin;
Wang, Qi;
Peng, Songmin;
Peng, Yao;
Wang, Yu‐Rong;
Hu, Liang;
Aiyitahong, Rejima;
Peng, Lin;
Gu, Feng;
Lu, Guang‐Xiu;
Lin, Ge;
Chen, Song;
Tan, Yue‐Qiu;
Du, Juan;
He, Wen‐Bin

Publication type:

Article

Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00749-w

By:

Diallo, Thierno Abdoulaye;
Diop, Abdou;
Faye, Boubacar;
Ndiaye, Babacar;
Sy, Mama;
Niang, Libasse;
Misrahi, Micheline;
Derwiche, Rena;
Mahou, Chantal;
Gaitch, Natacha;
Martinez, Brigitte;
Hourriez, Florence;
Bienvenu, Thierry;
Seck, Abdoulaye

Publication type:

Article

Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.

Published in:

Ophthalmic Surgery, Lasers & Imaging Retina, 2025, v. 56, n. 7, p. 437, doi. 10.3928/23258160-20250417-02

By:

Chaaya, Celine;
Ploumi, Ioanna;
Pandiri, Srujay;
Ding, Xinyi;
Hoyek, Sandra;
Chen, Chong;
Nodecker, Kayla N.;
Kim, Audrey;
Patel, Nimesh A.;
Miller, John B.

Publication type:

Article

The rising role of genetics in andrology research and clinical practice.

Published in:

Andrology, 2025, v. 13, n. 5, p. 983, doi. 10.1111/andr.70073

By:

Laan, Maris;
Aston, Kenneth I.;
Conrad, Donald F.

Publication type:

Article

Prostate cancer and genetic contributions.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1149, doi. 10.1111/andr.13812

By:

Chou, Wesley H.;
Chalker, Cameron;
Sokolova, Alexandra O.;
Isharwal, Sudhir

Publication type:

Article

Preconception carrier screening and preimplantation genetic testing in the infertility management.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1065, doi. 10.1111/andr.13744

By:

Caroselli, Silvia;
Poli, Maurizio;
Gatta, Valentina;
Stuppia, Liborio;
Capalbo, Antonio

Publication type:

Article

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1078, doi. 10.1111/andr.13742

By:

Oud, Manon S.;
de Leeuw, Nicole;
Smeets, Dominique F. C. M.;
Ramos, Liliana;
van der Heijden, Godfried W.;
Timmermans, Raoul G. J.;
van de Vorst, Maartje;
Hofste, Tom;
Kempers, Marlies J. E.;
Stokman, Marijn F.;
D'Hauwers, Kathleen W. M.;
Faas, Brigitte H. W.;
Westra, Dineke

Publication type:

Article

Examining the Novel Nonsense Variant of the TANGO2 Gene in a Child With Rhabdomyolysis: Diagnostic Insights.

Published in:

Journal of Pediatrics Review, 2025, v. 13, n. 2, p. 119, doi. 10.32598/jpr.13.2.1266.1

By:

Pournasiri, Zahra;
Zahmatkesh, Arefeh;
Ghorbani-khosroshahi, Neda;
Saberi, Mohammad

Publication type:

Article

A comprehensive all-in-one CRISPR toolbox for large-scale screens in plants.

Published in:

Plant Cell, 2025, v. 37, n. 4, p. 1, doi. 10.1093/plcell/koaf081

By:

Cheng, Yanhao;
Li, Gen;
Qi, Aileen;
Mandlik, Rushil;
Pan, Changtian;
Wang, Doris;
Ge, Sophia;
Qi, Yiping

Publication type:

Article

The kinesin motor POS3 and the microtubule polymerase MOR1 coordinate chromosome congression during mitosis in Arabidopsis.

Published in:

Plant Cell, 2025, v. 37, n. 4, p. 1, doi. 10.1093/plcell/koaf053

By:

Chen, Yu;
Liu, Haofeng;
Li, Yuanfeng;
Shen, Xiao;
Li, Shuting;
Yang, Lan;
An, Xue;
Lei, Pei;
Wang, Xiaomin;
Zhang, Hongchang;
Sheen, Jen;
Yu, Fei;
Liu, Xiayan

Publication type:

Article

Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.

Published in:

Human Reproduction, 2025, v. 40, n. 5, p. 956, doi. 10.1093/humrep/deaf050

By:

Rubens, Paula;
Mayeur, Anne;
Chatzovoulou, Kalliopi;
Gigarel, Nadine;
Monnot, Sophie;
Rötig, Agnès;
Munnich, Arnold;
Frydman, Nelly;
Steffann, Julie

Publication type:

Article