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Journal Articles

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia

Subject Area:

Genetics

Senmao Chai, Deyang Liu, Yajing Liu, Ming Sang

Hum Hered (2023) 88 (1): 91–97.

https://doi.org/10.1159/000534692

Published Online: 27 October 2023

View article titled, A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia

Journal Articles

Violation of the Constant Genetic Effect Assumption Can Result in Biased Estimates for Non-Linear Mendelian Randomization

Subject Area:

Genetics

Stephen Burgess

Hum Hered (2023) 88 (1): 79–90.

https://doi.org/10.1159/000531659

Published Online: 31 August 2023

View article titled, Violation of the Constant Genetic Effect Assumption Can Result in Biased Estimates for Non-Linear Mendelian Randomization

Journal Articles

A Novel PMVK Variant Associated with Familial Porokeratosis

Subject Area:

Genetics

Wenjing Zhang, Xinmiao Nie, Lei Shi, Fengmin Shao, Lihua Cao

Hum Hered (2023) 88 (1): 50–57.

https://doi.org/10.1159/000531120

Published Online: 14 June 2023

View article titled, A Novel PMVK Variant Associated with Familial Porokeratosis

Journal Articles

The Diagnostic Value of miR-124a Expression in Peripheral Blood and Synovial Fluid of Patients with Rheumatoid Arthritis

Subject Area:

Genetics

Tianhao Wu, Yanlong Zhang, Aqin Peng, Xirui Wu

Hum Hered (2023) 88 (1): 58–67.

https://doi.org/10.1159/000529171

Published Online: 14 June 2023

View article titled, The Diagnostic Value of miR-124a Expression in Peripheral Blood and Synovial Fluid of Patients with Rheumatoid Arthritis

Journal Articles

Methods and Software to Analyze Gene-Environment Interactions under a Case-Mother-Control-Mother Design with Partially Missing Child Genotype

Subject Area:

Genetics

Alexandre Bureau, Yuang Tian, Patrick Levallois, Yves Giguère, Jinbo Chen, Hong Zhang

Hum Hered (2023) 88 (1): 38–49.

https://doi.org/10.1159/000529559

Published Online: 26 April 2023

View article titled, Methods and Software to Analyze Gene-Environment Interactions under a Case-Mother-Control-Mother Design with Partially Missing Child Genotype

Journal Articles

A Common Variant of ARRB2 Promoter Region Associated with the Prognosis of Heart Failure

Subject Area:

Topic Article Package: Antibody-Drug Conjugates , Genetics

Hongqiang Ren, Yijun liu, Zhen Tan, Guiquan Luo, Mei Zhang, Shuang Li, Tingwei Tang, Li Zhao

Hum Hered (2023) 88 (1): 68–78.

https://doi.org/10.1159/000530827

Published Online: 26 April 2023

View article titled, A Common Variant of ARRB2 Promoter Region Associated with the Prognosis of Heart Failure

Journal Articles

Polymorphisms of Placental Iodothyronine Deiodinase Genes in a Rural Area of Northern China with High Prevalence of Neural Tube Defects

Subject Area:

Genetics

Fang Wang, Yan-Hong Gu, Jin Guo, YiHua Bao, ZhiYong Qiu, Ping Zheng, Masaru Ushijima, Masaaki Matsuura, Ting Zhang

Hum Hered (2023) 88 (1): 29–37.

https://doi.org/10.1159/000530112

Published Online: 21 March 2023

View article titled, Polymorphisms of Placental Iodothyronine Deiodinase Genes in a Rural Area of Northern China with High Prevalence of Neural Tube Defects

Journal Articles

Identification of a Hypoxia-Related Signature as Candidate Detector for Schizophrenia Based on Genome-Wide Gene Expression

Subject Area:

Topic Article Package: Antibody-Drug Conjugates , Genetics

Zhitao Li, Xinyu Sun, Jia He, Dongyan Kong, Jinyi Wang, Lili Wang

Hum Hered (2023) 88 (1): 18–28.

https://doi.org/10.1159/000529902

Published Online: 13 March 2023

View article titled, Identification of a Hypoxia-Related Signature as Candidate Detector for Schizophrenia Based on Genome-Wide Gene Expression

Journal Articles

A Comprehensive Study of Disease-Causing Variants in PAH , QDPR , PTS , and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review

Subject Area:

Topic Article Package: Antibody-Drug Conjugates , Genetics

Mahmoud Ghanei, Seyedeh Helia Sadat Fatemi, Tayebeh Hamzehlouei

Hum Hered (2023) 88 (1): 8–17.

https://doi.org/10.1159/000529037

Published Online: 16 January 2023

View article titled, A Comprehensive Study of Disease-Causing Variants in PAH , QDPR , PTS , and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review

Journal Articles

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR

Subject Area:

Genetics

Shiguo Chen, Jian Gao, Qunyan Wu, Xi Li, Sheng Lin, Jindi Su, Kaifeng Zheng, Zhaopeng Guo, Jilong Yao, Shan Duan

Hum Hered (2023) 88 (1): 1–7.

https://doi.org/10.1159/000527806

Published Online: 31 October 2022

View article titled, Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR

Journal Articles

The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?

Subject Area:

Genetics

Nguyen Thy Ngoc, Nguyen Thuy Linh, Nguyen Thi Xuan

Hum Hered (2022) 87 (3-4): 102–106.

https://doi.org/10.1159/000526201

Published Online: 03 August 2022

View article titled, The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?

Journal Articles

Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia

Subject Area:

Genetics

Baohua Zhou, Xuelian Chu, Caijuan Zhang, Xiufeng Liang

Hum Hered (2022) 87 (3-4): 87–95.

https://doi.org/10.1159/000525663

Published Online: 18 July 2022

View article titled, Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia

Journal Articles

Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes

Subject Area:

Genetics

Ying Yu, Siyuan Chen, Samantha Jean Jones, Rawnak Hoque, Olga Vishnyakova, Angela Brooks-Wilson, Brad McNeney

Hum Hered (2022) 87 (3-4): 69–86.

https://doi.org/10.1159/000525650

Published Online: 29 June 2022

View article titled, Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes

Journal Articles

Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure

Subject Area:

Genetics

Shiyang Li, Yuehong Wang, Xiaobing Zeng, Yanyu Zhang, Shihai Wang, Yuyong Liu, Dawen Xu, Jianjun Lan, Dong Hu

Hum Hered (2022) 87 (3-4): 96–101.

https://doi.org/10.1159/000525713

Published Online: 28 June 2022

View article titled, Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure

Journal Articles

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome

Subject Area:

Genetics

Liling Zhao, Hongmei Dai, Qin Zhang, Wenmu Hu, Ping Jin

Hum Hered (2022) 87 (2): 60–68.

https://doi.org/10.1159/000525223

Published Online: 03 June 2022

View article titled, Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome

Journal Articles

50th European Mathematical Genetics Meeting (EMGM) 2022

Subject Area:

Genetics

Jennifer Asimit

Hum Hered (2022) 87 (Suppl. 1): 1–42.

https://doi.org/10.1159/000524615

Published Online: 20 April 2022

View article titled, 50th European Mathematical Genetics Meeting (EMGM) 2022

Journal Articles

The Mitochondrial tRNA Asp T7561C, tRNA His C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree

Subject Area:

Genetics

Haiying Fu, Jinming Sun, Xiaoyan Xu

Hum Hered (2022) 87 (2): 51–59.

https://doi.org/10.1159/000524163

Published Online: 28 March 2022

View article titled, The Mitochondrial tRNA Asp T7561C, tRNA His C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree

Journal Articles

Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts

Subject Area:

Genetics

Hum Hered (2022) 87 (2): 34–50.

https://doi.org/10.1159/000522642

Published Online: 16 February 2022

View article titled, Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts

Journal Articles

Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy

Subject Area:

Genetics

Yujuan Qi, Zhenhua Wu, Yaobang Bai, Yan Jiao, Peijun Li

Hum Hered (2022) 87 (1): 1–11.

https://doi.org/10.1159/000521615

Published Online: 06 January 2022

View article titled, Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy

Journal Articles

Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2 -Negative Breast and Ovarian Cancer Patients

Subject Area:

Genetics

Fuat Aksoy, Havva Tezcan Unlu, Gulsah Cecener, Gamze Guney Eskiler, Unal Egeli, Berrin Tunca, Ecem Efendi Erdem, Kazım Senol, Mustafa Sehsuvar Gokgoz

Hum Hered (2022) 87 (2): 21–33.

https://doi.org/10.1159/000521369

Published Online: 06 January 2022

View article titled, Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2 -Negative Breast and Ovarian Cancer Patients

NARROW

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia

Violation of the Constant Genetic Effect Assumption Can Result in Biased Estimates for Non-Linear Mendelian Randomization

A Novel PMVK Variant Associated with Familial Porokeratosis

The Diagnostic Value of miR-124a Expression in Peripheral Blood and Synovial Fluid of Patients with Rheumatoid Arthritis

Methods and Software to Analyze Gene-Environment Interactions under a Case-Mother-Control-Mother Design with Partially Missing Child Genotype

A Common Variant of ARRB2 Promoter Region Associated with the Prognosis of Heart Failure

Polymorphisms of Placental Iodothyronine Deiodinase Genes in a Rural Area of Northern China with High Prevalence of Neural Tube Defects

Identification of a Hypoxia-Related Signature as Candidate Detector for Schizophrenia Based on Genome-Wide Gene Expression

A Comprehensive Study of Disease-Causing Variants in PAH , QDPR , PTS , and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR

The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?

Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia

Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes

Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome

50th European Mathematical Genetics Meeting (EMGM) 2022

The Mitochondrial tRNA Asp T7561C, tRNA His C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree

Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts

Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy

Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2 -Negative Breast and Ovarian Cancer Patients

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