Human Genome Epidemiology Literature Finder
Reproductive and Child Health
Records 1 - 30 (of 443 Records) |
Query Trace: Birth Defects[original query] |
---|
A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A from a cohort of 47336 individuals. International journal of laboratory hematology 2022 9 45 (1): 90-95. Lou Jiwu, Ye Yuhua, Sun Manna, Zhao Ying, Fu Youqing, Liu Yanh |
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. Genes 2022 8 13 (8): . Okashah Sarah, Vasudeva Dhanya, El Jerbi Aya, Khodjet-El-Khil Houssein, Al-Shafai Mashael, Syed Najeeb, Kambouris Marios, Udassi Sharda, Saraiva Luis R, Al-Saloos Hesham, Udassi Jai, Al-Shafai Kholoud |
Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study. Global medical genetics 2022 7 9 (3): 208-211. Khan Mahamad Irfanulla, Cs Prashanth, Srinath Narasimhamur |
Eph and Ephrin Variants in Malaysian Neural Tube Defect Families. Genes 2022 6 13 (6): . Mohd-Zin Siti Waheeda, Tan Amelia Cheng Wei, Atroosh Wahib M, Thong Meow-Keong, Azizi Abu Bakar, Greene Nicholas D E, Abdul-Aziz Noraishah Myd |
A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.
American journal of medical genetics. Part A 2022 4 188 (8): 2303-2314. Rashkin Sara R, Cleves Mario, Shaw Gary M, Nembhard Wendy N, Nestoridi Eirini, Jenkins Mary M, Romitti Paul A, Lou Xiang-Yang, Browne Marilyn L, Mitchell Laura E, Olshan Andrew F, Lomangino Kevin, Bhattacharyya Sudeepa, Witte John S, Hobbs Charlotte A, |
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. Birth defects research 2022 4 114 (10): 478-486. Thiem Corina E, Stegmann Jil D, Hilger Alina C, Waffenschmidt Lea, Bendixen Charlotte, Köllges Ricarda, Schmiedeke Eberhard, Schäfer Frank-Mattias, Lacher Martin, Kosch Ferdinand, Grasshoff-Derr Sabine, Kabs Carmen, Neser Jörg, Jenetzky Ekkehart, Fazaal Julia, Schumacher Johannes, Hoefele Julia, Ludwig Kerstin U, Reutter Hei |
Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes. Genetic epidemiology 2022 Feb . Mukhopadhyay Nandita, Feingold Eleanor, Moreno-Uribe Lina, Wehby George, Valencia-Ramirez Luz Consuelo, Restrepo Muñeton Claudia P, Padilla Carmencita, Deleyiannis Frederic, Christensen Kaare, Poletta Fernando A, Orioli Ieda M, Hecht Jacqueline T, Buxó Carmen J, Butali Azeez, Adeyemo Wasiu L, Vieira Alexandre R, Shaffer John R, Murray Jeffrey C, Weinberg Seth M, Leslie Elizabeth J, Marazita Mary |
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China. Frontiers in genetics 2022 10 13 992073. Luo Haiyan, Huang Ting, Lu Qing, Zhang Liuyang, Xu Yonghua, Yang Yan, Guo Zhen, Yuan Huizhen, Shen Yinqin, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq |
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 |
Regional distribution of the MTHFR C677T polymorphism in Chinese females. Frontiers in genetics 2023 5 14 1139124. Hua Lin, Changxi Liao, Rujing Zha |
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 |
IRF6 and FGF1 polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population. Open medicine (Warsaw, Poland) 2023 4 18 (1): 20230677. Zawi?lak Alicja, Wo?niak Krzysztof, Kawala Beata, Gupta Satish, Znamirowska-Bajowska Anna, Janiszewska-Olszowska Joanna, Lubi?ski Jan, Calvo-Guirado José Luis, Grocholewicz Katarzyna, Jakubowska An |
Rare genetic variants in SEC24D modify orofacial cleft phenotypes. medRxiv : the preprint server for health sciences 2023 4 . Curtis Sarah W, Carlson Jenna C, Beaty Terri H, Murray Jeffrey C, Weinberg Seth M, Marazita Mary L, Cotney Justin L, Cutler David J, Epstein Michael P, Leslie Elizabeth |
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. American journal of medical genetics. Part A 2023 3 . Sok Pagna, Sabo Aniko, Almli Lynn M, Jenkins Mary M, Nembhard Wendy N, Agopian A J, Bamshad Michael J, Blue Elizabeth E, Brody Lawrence C, Brown Austin L, Browne Marilyn L, Canfield Mark A, Carmichael Suzan L, Chong Jessica X, Dugan-Perez Shannon, Feldkamp Marcia L, Finnell Richard H, Gibbs Richard A, Kay Denise M, Lei Yunping, Meng Qingchang, Moore Cynthia A, Mullikin James C, Muzny Donna, Olshan Andrew F, Pangilinan Faith, Reefhuis Jennita, Romitti Paul A, Schraw Jeremy M, Shaw Gary M, Werler Martha M, Harpavat Sanjiv, Lupo Philip J, |
Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province. BMC medical genomics 2023 3 16 (1): 39. Huang Zhiwei, Yang Qingchan, Ye Jianxiang, Huang Jianxing, Lin Jin, Chen Jing, Liang Zizhao, Cao Zij |
[Carrier screening and prenatal diagnosis for thalassemia-associated mutations in Jiaxing area of Zhejiang]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 2 40 (3): 295-300. Jiang Huling, Zhou Chiyan, Yang Li, Li Suping, Liu Xiaod |
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 |
Association of paternal MTHFR polymorphisms (C677T) with clinical outcomes in ICSI treatment. Frontiers in endocrinology 2023 1 13 1084463. Wan Yangyang, Liu Wenjing, Xu Bo, Jiang Xiaohua, Hua Ju |
Gene×environment associations in orofacial clefting. Current topics in developmental biology 2023 1 152 169-192. Marazita Mary |
Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study. Genes 2023 1 14 (1): . Webber Daniel M, Li Ming, MacLeod Stewart L, Tang Xinyu, Levy Joseph W, Karim Mohammad A, Erickson Stephen W, Hobbs Charlotte A, The National Birth Defects Prevention Stud |
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
- Page last updated:Apr 22, 2024
- Content source: