Works matching IS 1178704X AND DT 2024 AND VI 17

Results: 20

First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 215, doi. 10.2147/TACG.S497959

By:

Alghanem, Bandar;
Alamri, Hassan S;
Barhoumi, Tlili;
Khan, Imran Ali;
Almuhalhil, Khawlah;
Aloyouni, Essra;
Shaibah, Hayat;
Mashhour, Abdullah;
Algheribe, Shatha;
Islam, Imadul;
Boudjelal, Mohamed;
Alfadhel, Majid

Publication type:

Article

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 205, doi. 10.2147/TACG.S498338

By:

Kałużewski, Tadeusz;
Pinkier, Iwona;
Wysocka, Urszula;
Sałamunia, Jordan;
Kępczyński, Łukasz;
Piotrowicz, Małgorzata;
Kałużewski, Bogdan;
Gach, Agnieszka

Publication type:

Article

Bilateral Wilms Tumor - Case Report of a Patient with Family History.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 199, doi. 10.2147/TACG.S495498

By:

Rdzanek, Oliwia;
Najda, Patrycja;
Parysek-Wójcik, Karolina;
Pytlik, Anna;
Lejman, Monika;
Zawitkowska, Joanna

Publication type:

Article

Pathway of LCK Tyrosine Kinase and mTOR Signaling in Children with T-Cell Acute Lymphoblastic Leukemia.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 187, doi. 10.2147/TACG.S494389

By:

Rocka, Agata;
Suchcicka, Maria;
Jankowska, Aleksandra M;
Woźniak, Magdalena M;
Lejman, Monika

Publication type:

Article

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 171, doi. 10.2147/TACG.S472898

By:

Zheng, Zhoushu;
Yan, Lulu;
Ding, Lu;
Zhang, Yinghui;
Wang, Meihong;
Yang, Yihui;
Wu, Junhua;
Chen, Changshui;
Tang, Ming;
Li, Haibo

Publication type:

Article

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 151, doi. 10.2147/TACG.S476350

By:

Alshamlani, Lamia K;
Alsulaim, Dana S;
Alabbad, Raghad S;
Alhoshan, Ahad A;
Alkhoder, Joud F;
Alsaleh, Norah S;
Almannai, Mohammed;
Ababneh, Faroug;
Algattan, Manal;
Alsini, Lojain;
Alswaid, Abdulrahman Faiz;
Eyaid, Wafaa M;
Mutairi, Fuad Al;
Umair, Muhammad;
Alfadhel, Majid

Publication type:

Article

Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 107, doi. 10.2147/TACG.S458400

By:

Khongthon, Nop;
Theeraviwatwong, Midi;
Wichajarn, Khunton;
Rojnueangnit, Kitiwan

Publication type:

Article

The Ser434Phe Androgen Receptor Gene Mutation Does Not Affect Fertility but is Associated with Increased Prolactin.

Published in:

2024

By:

Saadeh, Nesreen A;
Obeidat, Marya;
Shboul, Mohammad

Publication type:

Case Study

Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient.

Published in:

2024

By:

Salih, Omaima Abdel Majeed Mohamed;
Erwa, Nahla Hashim Hassan;
Abdelmoneim, Abdelrahman Hamza;
Fadl, Hiba Awadelkareem Osman;
Glanzmann, Brigitte;
Osman, Manasik Abdalla Babiker;
Osman, Monzir Ahmed Hassan;
Gasim, Thuraya Mohamed Elshiekh;
Mustafa, Alamin

Publication type:

Case Study

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum].

Published in:

2024

By:

Sánchez-Espino, Luis Fernando;
Ivars, Marta;
Antoñanzas, Javier;
Baselga, Eulalia

Publication type:

Correction Notice

The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 95, doi. 10.2147/TACG.S463965

By:

Nakhonsri, Vorthunju;
John, Shobana;
Panumasmontol, Hathaichanok;
Jantorn, Manassanan;
Chanthot, Pongpipat;
Hanpramukkun, Nuntachai;
Meelarp, Supaporn;
Sukasem, Chonlaphat;
Tongsima, Sissades;
Hasatsri, Sukhontha;
Prawang, Abhisit;
Thaingtamtanha, Thanawat;
Vanwong, Natchaya;
Atasilp, Chalirmporn;
Chamnanphon, Monpat;
Jinda, Pimonpan;
Satapornpong, Patompong

Publication type:

Article

Association of RIPK1 and RIPK2 Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Han Population.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 159, doi. 10.2147/TACG.S472418

By:

Lv, Shuang;
Li, Yiming;
Sun, Bojian;
Jing, Yu;
Wang, Xing;
Gu, Zhanqing;
Wang, Bailiang;
Xiao, Cheng

Publication type:

Article

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied.

Published in:

2024

By:

Zhang, Shuping;
Ma, Yamei;
Zang, Xiu;
Heng, Hao;
Liu, Xuekui;
Peng, Gangshan;
Liu, Ran;
Liang, Jun;
Geng, Houfa

Publication type:

Case Study

Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 33, doi. 10.2147/TACG.S457395

By:

Wodelo, Wycliff;
Wampande, Eddie M;
Andama, Alfred;
Kateete, David Patrick;
Ssekatawa, Kenneth

Publication type:

Article

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 117, doi. 10.2147/TACG.S465575

By:

Ręka, Gabriela;
Wojciechowska, Katarzyna;
Lejman, Monika

Publication type:

Article

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 71, doi. 10.2147/TACG.S448084

By:

Du, Nan;
Wang, Xiaolei;
Wang, Zhaohui;
Liu, Hongwei;
Liu, Hui;
Duan, Hongfang;
Zhao, Shaozhi;
Banerjee, Santasree;
Zhang, Xinwen

Publication type:

Article

Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 57, doi. 10.2147/TACG.S444546

By:

Sierra-Díaz, Diana Carolina;
Cabrera, Rodrigo;
Gonzalez-Vasquez, Laura Alejandra;
Angulo-Aguado, Mariana;
Llinás-Caballero, Kevin;
Fonseca-Mendoza, Dora Janeth;
Contreras-Bravo, Nora Constanza;
Restrepo, Carlos Martin;
Ortega-Recalde, Oscar;
Morel, Adrien

Publication type:

Article

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.

Published in:

2024

By:

Wang, Ying;
Bi, Shaohua;
Shi, Xiaoqing;
Dai, Liying

Publication type:

Case Study

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 85, doi. 10.2147/TACG.S461674

By:

Xu, Zhen;
Liu, Na;
Gao, Lu;
Yu, Dongyi

Publication type:

Article

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

Published in:

Application of Clinical Genetics, 2024, v. 17, p. 47, doi. 10.2147/TACG.S457634

By:

Tung, Nguyen Thanh;
Sang, Trieu Tien;
Van Khoa, Tran;
Van Phong, Nguyen;
Phuong, Tran Hoang

Publication type:

Article