Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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St. Jude Survivorship Portal: sharing and analyzing large clinical and genomic datasets from pediatric cancer survivors. Cancer discovery 2024 4 . Gavriel Y Matt, Edgar Sioson, Kyla Shelton, Jian Wang, Congyu Lu, Airen Zaldivar Peraza, Karishma Gangwani, Robin Paul, Colleen Reilly, Aleksandar Aci?, Qi Liu, Stephanie R Sandor, Clay McLeod, Jaimin Patel, Fan Wang, Cindy Im, Zhaoming Wang, Yadav Sapkota, Carmen L Wilson, Nickhill Bhakta, Kirsten K Ness, Gregory T Armstrong, Melissa M Hudson, Leslie L Robison, Jinghui Zhang, Yutaka Yasui, Xin Zh |
Association between early spontaneous abortion and homocysteine metabolism. Frontiers in medicine 2024 4 11 1310112. Fangliang Lei, Lili Zhang, Li Wang, Wentao Wu, Fei Wa |
Identification of a Single Nucleotide Polymorphism of Vitamin D Receptor (VDR) and Vitamin D Binding Protein (VDBP) Gene and Its Dysregulated Pathway Through VDR-VDBP Interaction Network Analysis in Vitamin D-Deficient Infertile Females. Cureus 2024 4 16 (3): e55602. Zil E Rubab, Sumaira Naz, Mussarat Ashraf, Saba Shahid, Rehana Rehm |
Burden of Mendelian disorders in a large Middle Eastern biobank. Genome medicine 2024 4 16 (1): 46. Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, , Younes Mokrab, Khalid A Fakh |
Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China. Biochemical genetics 2024 4 . Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min |
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent. The Journal of molecular diagnostics : JMD 2024 4 . Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darvishi, Amar Chand Bhayal, Lavanya Katikala, Fen Guo, Xiangwen Chen-Deutsch, Jorune Balciuniene, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Lora Bean, Christin Collins, Madhuri Heg |
Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China. Italian journal of pediatrics 2024 4 50 (1): 62. Ye Jin, Miao Zhao, Qiuzhe Guo, Wanyu Zhao, Min Lei, Yifei Zhang, Yunhan Zhang, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun, Zhiling L |
Investigating genetic links between blood metabolites and preeclampsia. BMC women's health 2024 4 24 (1): 223. Qiannan Lin, Siyu Li, Huiyan Wang, Wenbo Zh |
A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. EBioMedicine 2024 4 105086. Mariela V Jennings, José Jaime Martínez-Magaña, Natasia S Courchesne-Krak, Renata B Cupertino, Laura Vilar-Ribó, Sevim B Bianchi, Alexander S Hatoum, Elizabeth G Atkinson, Paola Giusti-Rodriguez, Janitza L Montalvo-Ortiz, Joel Gelernter, María Soler Artigas, , Sarah L Elson, Howard J Edenberg, Pierre Fontanillas, Abraham A Palmer, Sandra Sanchez-Roi |
Plasma oxysterols are associated with serum lipids and dementia risk in older women. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 4 . Michelle M Dunk, Stephen R Rapp, Kathleen M Hayden, Mark A Espeland, Ramon Casanova, JoAnn E Manson, Aladdin H Shadyab, Robert Wild, Ira Drisco |
The genetic landscape of autism spectrum disorder in the Middle Eastern population. Frontiers in genetics 2024 4 15 1363849. Yasser Al-Sarraj, Rowaida Z Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M E Albag |
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 2024 4 16 (1): 53. Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morr |
The Relationship Between Chromosomal Polymorphism and Male Reproductive Abnormalities. Reproductive sciences (Thousand Oaks, Calif.) 2024 4 . Cui Chen, Junyi Jiang, Qin Yang, Xiaojing Cheng, Guiling Wa |
[The causal relationship between gut microbiota and male reproductive and sexual health]. Zhonghua nan ke xue = National journal of andrology 2024 4 29 (7): 587-595. Si-Cheng Ma, Chen-Ming Zhang, Xiao-Hui Hao, Rui-Min Ma, Jing Hu, Wen-Lin Yu, Zu-Long Wang, Zi-Xue S |
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. International journal of medical sciences 2024 4 21 (5): 784-794. Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan |
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region. Brain and behavior 2024 4 14 (4): e3437. Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K M Furkan Uddin, Hosneara Akter, Mohammed Udd |
Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants. Schizophrenia bulletin 2024 4 . Yu Chen, Wenqiang Li, Luxian Lv, Weihua Y |
The causal effect of exposure to air pollution on risk of adverse pregnancy outcomes: A two-sample Mendelian randomisation study. The Science of the total environment 2024 4 928 172234. Yanhui Li, Zhou Ya |
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III. CNS neuroscience & therapeutics 2024 4 30 (4): e14718. Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan |
Toward clinical exomes in diagnostics and management of male infertility. American journal of human genetics 2024 4 . Kristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, Anu Valkna, Avirup Dutta, Kristjan Pomm, Olev Poolamets, Liina Nagirnaja, Erik Tamp, Eisa Mahyari, Vladimir Vihljajev, Stanislav Tjagur, Sofia Papadimitriou, Antoni Riera-Escamilla, Nassim Versbraegen, Ginevra Farnetani, Helen Castillo-Madeen, Mailis Sütt, Viljo Kübarsepp, Sven Tennisberg, Paul Korrovits, Csilla Krausz, Kenneth I Aston, Tom Lenaerts, Donald F Conrad, Margus Punab, Maris La |
TCF7L2 Polymorphism rs7903146 (C/T) and Gestational Diabetes Influence on Obstetric Outcome: A Romanian Case-Control Study. International journal of molecular sciences 2024 4 25 (7): . Gheorghe Cruciat, Andreea Roxana Florian, Mariam-Suzana Chaikh-Sulaiman, Adelina Staicu, Gabriela Valentina Caracostea, Lucia Maria Procopciuc, Florin Stamatian, Daniel Mures |
Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults. Cerebral cortex (New York, N.Y. : 1991) 2024 4 34 (4): . Nea Rinne, Patrik Wikman, Elisa Sahari, Juha Salmi, Elisabet Einarsdóttir, Juha Kere, Kimmo Al |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands. Scientific reports 2024 4 14 (1): 8558. Nilanjana Dutta, Mahasweta Chatterjee, Sharmistha Saha, Swagata Sinha, Kanchan Mukhopadhy |
Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan. Biomedical journal 2024 4 100725. Wei-De Lin, Ting-Yuan Liu, Yu-Chia Chen, I-Ching Chou, Fuu-Jen Ts |
Variations in the Cadherin 23 Gene Associated With Noise-Induced Hearing Loss. Journal of multidisciplinary healthcare 2024 4 17 1473-1482. Jie Jiao, Shanfa Yu, Guizhen Gu, Guoshun Chen, Huanling Zhang, Yuxin Zhe |
Maternal and infant outcomes in women with sickle cell disease: a matched cohort study. Archives of disease in childhood. Fetal and neonatal edition 2024 4 . Oishi Sikdar, Hemant Ambulkar, Allan Jenkinson, Catherine Hedley, Jemma Johns, Ravindra Bhat, Theodore Dassios, Christopher Harris, Anne Greenou |
Correction: Vitamin D Deficiency and Its Association With Vitamin D Receptor Gene Variants Among Malaysian Women With Hypertensive Disorders in Pregnancy: Protocol for a Nutrigenomics Study. JMIR research protocols 2024 4 13 e59300. Yakubu Ibrahim, Nurul Iftida Basri, Norshariza Nordin, Amilia Afzan Mohd Jam |
Atrial Fibrillation and Clonal Hematopoiesis in TET2 and ASXL1. JAMA cardiology 2024 4 . Seyedmohammad Saadatagah, Mohammadreza Naderian, Mesbah Uddin, Ozan Dikilitas, Abhishek Niroula, Art Schuermans, Elizabeth Selvin, Ron C Hoogeveen, Kunihiro Matsushita, Vijay Nambi, Bing Yu, Lin Yee Chen, Alexander G Bick, Benjamin L Ebert, Michael C Honigberg, Na Li, Amil Shah, Pradeep Natarajan, Iftikhar J Kullo, Christie M Ballanty |
Impact of Viloxazine Extended-Release Capsules (Qelbree) on Select Cytochrome P450 Enzyme Activity and Evaluation of CYP2D6 Genetic Polymorphisms on Viloxazine Pharmacokinetics. Clinical drug investigation 2024 4 . Zhao Wang, Tesfaye Liranso, Zulane Maldonado-Cruz, Alisa R Kosheleff, Azmi Nass |
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Frontiers in genetics 2024 4 15 1331278. Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krau |
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- Page last updated:Apr 22, 2024
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