Journal Issue: Appl Clin Genet Volume 17;  2024

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Journal List

Volume 17;  2024

Original Research

Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure
Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, Tianxiang Ni, Junhao Yan
Appl Clin Genet. 2024; 17: 1–13. Published online 2024 Feb 1. doi: 10.2147/TACG.S441784
PMCID:
PMC10840415
Abstract Article PDF–3.1M
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam
Nguyen Thanh Tung, Trieu Tien Sang, Tran Van Khoa, Nguyen Van Phong, Tran Hoang Phuong
Appl Clin Genet. 2024; 17: 47–56. Published online 2024 May 6. doi: 10.2147/TACG.S457634
PMCID:
PMC11082556
Abstract Article PDF–4.9M
Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues
Zhen Xu, Na Liu, Lu Gao, Dongyi Yu
Appl Clin Genet. 2024; 17: 85–93. Published online 2024 May 31. doi: 10.2147/TACG.S461674
PMCID:
PMC11149622
Abstract Article PDF–3.1M
The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine
Vorthunju Nakhonsri, Shobana John, Hathaichanok Panumasmontol, Manassanan Jantorn, Pongpipat Chanthot, Nuntachai Hanpramukkun, Supaporn Meelarp, Chonlaphat Sukasem, Sissades Tongsima, Sukhontha Hasatsri, Abhisit Prawang, Thanawat Thaingtamtanha, Natchaya Vanwong, Chalirmporn Atasilp, Monpat Chamnanphon, Pimonpan Jinda, Patompong Satapornpong
Appl Clin Genet. 2024; 17: 95–105. Published online 2024 Jul 2. doi: 10.2147/TACG.S463965
PMCID:
PMC11227332
Abstract Article PDF–2.8M
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
Nop Khongthon, Midi Theeraviwatwong, Khunton Wichajarn, Kitiwan Rojnueangnit
Appl Clin Genet. 2024; 17: 107–115. Published online 2024 Jul 4. doi: 10.2147/TACG.S458400
PMCID:
PMC11231028
Abstract Article PDF–3.9M

Short Reports

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function
Kristine Andersen, Torben Hansen, Marit Eika Jørgensen, Ninna Senftleber
Appl Clin Genet. 2024; 17: 15–21. Published online 2024 Feb 2. doi: 10.2147/TACG.S437484
PMCID:
PMC10849137
Abstract Article PDF–532K
Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer
Diana Carolina Sierra-Díaz, Rodrigo Cabrera, Laura Alejandra Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Janeth Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Martin Restrepo, Oscar Ortega-Recalde, Adrien Morel
Appl Clin Genet. 2024; 17: 57–62. Published online 2024 May 23. doi: 10.2147/TACG.S444546
PMCID:
PMC11129763
Abstract Article PDF–1.9M

Case Reports

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations
Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa
Appl Clin Genet. 2024; 17: 23–32. Published online 2024 Feb 20. doi: 10.2147/TACG.S438135
PMCID:
PMC10893891
Abstract Article PDF–2.6M
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
Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai
Appl Clin Genet. 2024; 17: 63–69. Published online 2024 May 27. doi: 10.2147/TACG.S465244
PMCID:
PMC11141715
Abstract Article PDF–1.3M
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1
Nan Du, Xiaolei Wang, Zhaohui Wang, Hongwei Liu, Hui Liu, Hongfang Duan, Shaozhi Zhao, Santasree Banerjee, Xinwen Zhang
Appl Clin Genet. 2024; 17: 71–84. Published online 2024 May 31. doi: 10.2147/TACG.S448084
PMCID:
PMC11149649
Abstract Article PDF–4.3M
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
Gabriela Ręka, Katarzyna Wojciechowska, Monika Lejman
Appl Clin Genet. 2024; 17: 117–124. Published online 2024 Jul 15. doi: 10.2147/TACG.S465575
PMCID:
PMC11268518
Abstract Article PDF–4.8M
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, Houfa Geng
Appl Clin Genet. 2024; 17: 125–130. Published online 2024 Jul 16. doi: 10.2147/TACG.S465859
PMCID:
PMC11268705
Abstract Article PDF–353K

Review

Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population
Wycliff Wodelo, Eddie M Wampande, Alfred Andama, David Patrick Kateete, Kenneth Ssekatawa
Appl Clin Genet. 2024; 17: 33–46. Published online 2024 Mar 29. doi: 10.2147/TACG.S457395
PMCID:
PMC10986402
Abstract Article PDF–537K
Articles from The Application of Clinical Genetics are provided here courtesy of Dove Press