Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 460 Records) |
| Query Trace: Birth defects [original query] |
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| Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes. Human genetics 2023 9 . Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinberg, Mary L Marazita, Justin L Cotney, David J Cutler, Michael P Epstein, Elizabeth J Lesl |
| Nonchromosomal birth defects and risk of childhood acute leukemia: An assessment in 15?000 leukemia cases and 46?000 controls from the Childhood Cancer and Leukemia International Consortium. International journal of cancer 2023 9 . Philip J Lupo, Tiffany M Chambers, Beth A Mueller, Jacqueline Clavel, John D Dockerty, David R Doody, Friederike Erdmann, Sameera Ezzat, Tommaso Filippini, Johnni Hansen, Julia E Heck, Claire Infante-Rivard, Alice Y Kang, Corrado Magnani, Carlotta Malagoli, Catherine Metayer, Helen D Bailey, Ana M Mora, Evangelia Ntzani, Eleni Th Petridou, Maria S Pombo-de-Oliveira, Wafaa M Rashed, Eve Roman, Joachim Schüz, Catharina Wesseling, Logan G Spector, Michael E Scheur |
| Exome sequencing findings in children with annular pancreas. Molecular genetics & genomic medicine 2023 8 e2233. Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler, Gary M Shaw, James L Mil |
| Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein-protein interaction network analyses. Birth defects research 2023 8 . Julia A Gomes, Eduarda Sgarioni, Juliano A Boquett, Thayne W Kowalski, Lucas R Fraga, Ana Cláudia P Terças-Trettel, Juliana H da Silva, Bethânia F R Ribeiro, Marcial F Galera, Thalita M de Oliveira, Maria Denise F Carvalho de Andrade, Isabella F Carvalho, Lavínia Schüler-Faccini, Fernanda S L Vian |
| Identification of USP9X as a leukemia susceptibility gene. Blood advances 2023 6 . Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M Schraw, Michael E Scheurer, Sejal Salvi, Harsha Doddapaneni, Donna Muzny, Danielle L Mitchell, Olga A Taylor, Aniko Sabo, Philip J Lupo, Sharon E Pl |
| Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients. Journal of human genetics 2023 6 . Li Zhang, Li Yu, Xianhong Shu, Jing Ding, Jingmin Zhou, Chunjiu Zhong, Baishen Pan, Wei Guo, Chunyan Zhang, Beili Wa |
| A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects. Genetic epidemiology 2023 6 . Manyan Huang, Chen Lyu, Nianjun Liu, Wendy N Nembhard, John S Witte, Charlotte A Hobbs, Ming Li, |
| Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India. BMC pediatrics 2023 6 23 (1): 290. Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellapp |
| Metabolic Analysis of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms (MTHFR 677C<T and MTHFR 1298A<C), Serum Folate and Vitamin B12 in Neural Tube Defects. Indian journal of clinical biochemistry : IJCB 2023 5 38 (3): 305-315. Mohammed H Hassan, Mohamed A Raslan, Mena Tharwat, Hala M Sakhr, Eslam El-Sayed El-Khateeb, Shimaa Fathy Sakr, Hesham H Ameen, Ali R Hamd |
| Genetic variants in BCL-2 family genes influence the risk of non-syndromic cleft lip with or without cleft palate. Birth defects research 2023 12 . Xing Cui, Guirong Zhu, Minxuan Han, Xiaofeng Li, Shu Lou, Changyue Xing, Shuangbo Xu, Yongchu Pan, Lin Wa |
| High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Translational research : the journal of laboratory and clinical medicine 2023 11 . Hui-Qi Qu, Joseph T Glessner, Jingchun Qu, Yichuan Liu, Deborah Watson, Xiao Chang, Amir Hossein Saeidian, Haijun Qiu, Frank D Mentch, John J Connolly, Hakon Hakonars |
| Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy. Human genomics 2024 9 18 (1): 110. Ju Long, Di Cui, Chunhui Yu, Wanli Me |
| Influence of different forms of folic acid supplementation on pregnancy outcomes under various exposure factors. Technology and health care : official journal of the European Society for Engineering and Medicine 2024 9 . Jie Song, Ruihong Lan, Dahua Yin, Ling Wang, Humin Go |
| Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death. Birth defects research 2024 8 116 (8): e2396. Nan Huang, Hegan Zhang, Zhengping Huang, Xiaoxia Wu, Na Zhang, Yuying Jiang, Chunnuan Chen, Jianlong Zhua |
| Application of whole exome sequencing in carrier screening for high-risk families without probands. Frontiers in genetics 2024 7 15 1415811. Qinlin Huang, Zhongjie Wang, Yanling Teng, Wen Zhang, Juan Wen, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo |
| Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family. Medical science monitor : international medical journal of experimental and clinical research 2024 7 30 e944294. Xiaoping Zhong, Xiaosha Han, Qihu Xie, Wanxian Chen, Deyi Geng, Genghong Guo, Xuefen Chen, Wancong Zhang, Jiasheng Chen, Shijie Ta |
| Single-Nucleotide Polymorphisms in WNT Genes in Patients with Non-Syndromic Orofacial Clefts in a Polish Population. Diagnostics (Basel, Switzerland) 2024 7 14 (14): . Alicja Zawi?lak, Krzysztof Wo?niak, Gianluca Tartaglia, Xabier Agirre, Satish Gupta, Beata Kawala, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Felipe Prosper, Jan Lubi?ski, Anna Jakubows |
| Rare variants analyses suggest novel cleft genes in the African population. Scientific reports 2024 6 14 (1): 14279. Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola M Oladayo, Emmanuel Aladenika, Mojisola Olujitan, Emma Wentworth, Deepti Anand, Thirona Naicker, Lord J J Gowans, Mekonen A Eshete, Wasiu L Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O'Rorke, Adebowale Adeyemo, Jeffrey C Murray, Justin Cotney, Salil A Lachke, Paul Romitti, Azeez Buta |
| Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population. Birth defects research 2024 6 116 (6): e2372. Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi, Moncef Feki, Raja Marrakc |
| Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy. Clinical chemistry and laboratory medicine 2024 6 . Mei Yao, Liya Jiang, Yue Yan, Yicheng Yu, Yuwei Chen, Xiaoyi Wang, Yijie Feng, Yiqin Cui, Dongming Zhou, Feng Gao, Shanshan M |
| Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects. Birth defects research 2024 5 116 (5): e2333. Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi, Moncef Feki, Raja Marrakc |
| Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case-control study. Birth defects research 2024 5 116 (5): e2365. Laouar Rania, Chellat Djalila, Djoudi Brahim, Achou Rayene, Horchi Meroua, Touabti Souhem, Atrih Zoubir, Choutri Hichem, Boukri Asma, Satta Dalila, Sifi Kari |
| Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis. Birth defects research 2024 5 116 (5): e2351. Xinying Chen, Yuying Jiang, Shuhong Zeng, Jianlong Zhuang, Na L |
| Quantification of multi-pathway metabolites related to folate metabolism and application in natural population with MTHFR C677T polymorphism. Analytical and bioanalytical chemistry 2024 12 . Mengdie Wang, Qiwen Zheng, Lei You, Huihui Wang, Peilin Jia, Xinyu Liu, Changqing Zeng, Guowang |
| Association of HLA-G 3'-UTR Haplotypes With Recurrent Spontaneous Abortion in Women From Northwest Iran. Birth defects research 2024 12 116 (12): e2418. Amin Moqadami, Mohammad Khalaj-Kondori, Mehdi Hag |
| Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting. Scientific reports 2024 11 14 (1): 26492. Anna Siewert, Simone Hoeland, Elisabeth Mangold, Kerstin U Ludw |
| [Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 11 41 (11): 1283-1289. Si Li, Ziyi Xiao, Chenyu Gou, Xiaolan Li, Yijuan Huang, Yuanqiu Chen, Shujing He, Zhiqiang Zhang, Zi Ren, Song Guo, Weiying Jiang, Yu G |
| Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts. Birth defects research 2024 10 116 (10): e2403. Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu P |
| Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric research 2024 1 . Gustavo D Dangoni, Anne Caroline B Teixeira, Silvia S da Costa, Marília O Scliar, Laura M L Carvalho, Luciana N Silva, Estela M Novak, Carolina S C Vince, Mariana C Maschietto, Sofia M M Sugayama, Vicente Odone-Filho, Ana Cristina V Krepisc |
| First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 1 . Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Sara Ramdani, Saida Lhousni, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Aziza Elouali, Ayad Ghanam, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Bouchra Oneib, Ahmed Mimouni, Hanane Saadi, Sanae Allaoui, Meryem Ouarzane, Agnès Guichet, Majida Charif, Redouane Boulouiz, Mohammed Bellao |
- Page last reviewed:Feb 1, 2024
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