The application of clinical genetics

Keyphrases

Publications

volume 17, 2024

Zhen Xu, Na Liu, Lu Gao, Dongyi Yu
Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues. The application of clinical genetics 17 (2024)
Kristine Andersen, Torben Hansen, Marit Eika Jorgensen, Ninna Karsbæk Senftleber
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function. The application of clinical genetics 17 (2024)
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
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer. The application of clinical genetics 17 (2024)
Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations. The application of clinical genetics 17 (2024)
Wycliff Wodelo, Eddie Mujjwiga Wampande, Alfred Andama, David Patrick Kateete, Kenneth Ssekatawa
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population. The application of clinical genetics 17 (2024)
Nguyen Thanh Tung, Trieu Tien Sang, Tran Van Khoa, Phong Nguyen Van, Tran Hoang Phuong
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam. The application of clinical genetics 17 (2024)
Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai
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. The application of clinical genetics 17 (2024)
Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, Tianxiang Ni, Junhao Yan
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure. The application of clinical genetics 17 (2024)
Wycliff Wodelo, Eddie Mujjwiga Wampande, Alfred Andama, David Patrick Kateete, Kenneth Ssekatawa
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population. The application of clinical genetics 17 (2024)
Nop Khongthon, Midi Theeraviwatwong, Khunton Wichajarn, Kitiwan Rojnueangnit
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. The application of clinical genetics 17 (2024)
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
The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine. The application of clinical genetics 17 (2024)
Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations. The application of clinical genetics 17 (2024)
Kristine Andersen, Torben Hansen, Marit Eika Jorgensen, Ninna Karsbæk Senftleber
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function. The application of clinical genetics 17 (2024)
Zhen Xu, Na Liu, Lu Gao, Dongyi Yu
Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues. The application of clinical genetics 17 (2024)
Nan Du, Xiaolei Wang, Zhaohui Wang, Hongwei Liu, Hui Liu, Hongfang Duan, Shaozhi Zhao, Santasree Banerjee, Xinwen Zhang
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1. The application of clinical genetics 17 (2024)
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
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer. The application of clinical genetics 17 (2024)
Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai
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. The application of clinical genetics 17 (2024)
Nan Du, Xiaolei Wang, Zhaohui Wang, Hongwei Liu, Hui Liu, Hongfang Duan, Shaozhi Zhao, Santasree Banerjee, Xinwen Zhang
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1. The application of clinical genetics 17 (2024)
Nop Khongthon, Midi Theeraviwatwong, Khunton Wichajarn, Kitiwan Rojnueangnit
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. The application of clinical genetics 17 (2024)
Gabriela Ręka, Katarzyna Wojciechowska, Monika Lejman
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report. The application of clinical genetics 17 (2024)
Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, Houfa Geng
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied. The application of clinical genetics 17 (2024)
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
The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine. The application of clinical genetics 17 (2024)
Nguyen Thanh Tung, Trieu Tien Sang, Tran Van Khoa, Phong Nguyen Van, Tran Hoang Phuong
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam. The application of clinical genetics 17 (2024)
Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, Tianxiang Ni, Junhao Yan
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure. The application of clinical genetics 17 (2024)

volume 16, 2023

Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population. The application of clinical genetics 16 (2023)
Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population. The application of clinical genetics 16 (2023)
Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations. The application of clinical genetics 16 (2023)
Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky
A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation. The application of clinical genetics 16 (2023)
Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky
A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation. The application of clinical genetics 16 (2023)
Bastien Grandjean, Amina Scherz, Manuela Rabaglio
Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics. The application of clinical genetics 16 (2023)
Abraham Nigussie Mekuria, Tamrayehu Seyoum, Dawit Hailu Alemayehu, Markos Abebe, Teshome Nedi, Tefera Abula, Yun Yun Gong, Ephrem Engidawork
Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia. The application of clinical genetics 16 (2023)
Kulawan Rojananuangnit, Kitiwan Rojnueangnit
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report. The application of clinical genetics 16 (2023)
The Son Trinh, Nhat Ngoc Nguyen, Hien Thi Thu Le, Hanh Thi My Pham, Trieu Tien Sang, Ngoc Thao My Tran, Hung Sy Ho, Danh Van Tran, Tam Van Trinh, Hiep Trong Hoang Nguyen, Ngoc Pham Minh, Trinh Duc Dang, Viet Huu Dinh, Hang Thi Doan
Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients. The application of clinical genetics 16 (2023)
Awol Mekonnen Ali, Haileyesus Adam, Daniel Hailu, Rawleigh Howe, Teferra Abula, Marieke J H Coenen
Evaluating the Frequencies of CNOT3, GRIA1, NFATC2 , and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia. The application of clinical genetics 16 (2023)
Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview. The application of clinical genetics 16 (2023)
Filippos Kyriakidis, Dionysios Kogias, Theodora Maria Venou, Eleni Karlafti, Daniel Paramythiotis
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis. The application of clinical genetics 16 (2023)
Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata Ilona Srebniak
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing. The application of clinical genetics 16 (2023)
Agnes Stephanie Harahap, Imam Subekti, Sonar Soni Panigoro, Asmarinah, null Lisnawati, Retno Asti Werdhani, Hasrayati Agustina, Dina Khoirunnisa, Mutiah Mutmainnah, null Salinah, Alvita Dewi Siswoyo, Maria Francisca Ham
Profile of BRAF V600E, BRAF K601E, NRAS, HRAS , and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital. The application of clinical genetics 16 (2023)
Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabaglio
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Luis Fernando Sanchez-Espino, Marta Ivars, Javier Antoñanzas, Eulalia Baselga
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. The application of clinical genetics 16 (2023)
Luis Fernando Sanchez-Espino, Marta Ivars, Javier Antoñanzas, Eulalia Baselga
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. The application of clinical genetics 16 (2023)
Divya Ail, Hugo Malki, Emilia A Zin, Deniz Dalkara
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We? The application of clinical genetics 16 (2023)
Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabaglio
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics 16 (2023)
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jorgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives. The application of clinical genetics 16 (2023)
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar
Prader-Willi and Angelman Syndromes: Mechanisms and Management. The application of clinical genetics 16 (2023)
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jorgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma
Genetic Links to Episodic Movement Disorders: Current Insights. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)