Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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Records 1 - 30 (of 630 Records) |
| Query Trace: Birth Defects Or Congenital Anomalies[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 |
| Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric nephrology (Berlin, Germany) 2023 9 . Dalia Pantel, Nils D Mertens, Ronen Schneider, Selina Hölzel, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Tze Y Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebran |
| Genetic and environmental factors driving congenital solitary functioning kidney. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2023 9 . Sander Groen In 't Woud, Marleen M H J van Gelder, Iris A L M van Rooij, Wout F J Feitz, Nel Roeleveld, Michiel F Schreuder, Loes F M van der Zanden, |
| 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 |
| Proximal 1q21 duplication: A syndrome or a susceptibility locus? American journal of medical genetics. Part A 2023 6 . Michal Levy, Mordechai Shohat, Sarit Kahana, Reut Matar, Kochav Klein, Ifat Agmon Fishman, Merav Gurevitch, Lina Basel-Salmon, Idit Ma |
| 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, |
| Whole genome sequencing analysis of four patients: Are de novo copy number variations in non-coding region responsible for microtia with lung hypoplasia? International journal of pediatric otorhinolaryngology 2023 6 171 111626. Xin Huang, Yang Jia, Yang Yang, Jianwen Qu, Bo P |
| 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 |
| The Potential Impact of Preemptive Pharmacogenetic Genotyping in the Neonatal Intensive Care Unit. The Journal of pediatrics 2023 5 113489. Katherine A Gallaway, Kayla Cann, Katherine Oetting, Mary Rothenberger, Andra Raibulet, James E Slaven, Kristen Suhrie, Emma M Tillm |
| Novel variants in the PAX6 gene related to isolated aniridia. Congenital anomalies 2023 5 . Katarzyna Kuchalska, Anna Wawrocka, Maciej R Krawczyns |
| Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Human molecular genetics 2023 5 . Sunwoo Lee, Lara Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, Charu Deshpande, Nicola C Foulds, Sébastien Jacquemont, Khadije Jizi, Henriette Kiep, Alison Kraus, Katharina Löhner, Patrick J Morrison, Bernt Popp, Ruth Richardson, Arie Haeringen, Ezequiel Martin, Ana Toribio, Fudong Li, Wendy D Jones, Francis H Sansbury, Eamonn R Mah |
| 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 |
| Association of preterm outcome with maternal systemic lupus erythematosus: a retrospective cohort study. Italian journal of pediatrics 2023 4 49 (1): 43. Chen Xiafang, Di Wen, Ye Lili, Hu Yabin, Jiang Meng, Wu Jiayue, Bu Jun, Sun Jianhua, Bei F |
| 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 |
| Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case-Parent Trio Study. Global medical genetics 2023 3 10 (1): 34-37. Khan Mahamad Irfanulla, Cs Prashanth, Srinath N, Neela Praveen K, Mohiuddin Mohammed |
| Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. Frontiers in neurology 2023 3 14 1092887. Ben Ayed Ikhlas, Jallouli Olfa, Murakami Yoshiko, Souissi Amal, Mallouli Salma, Bouzid Amal, Kamoun Fatma, Elloumi Ines, Frikha Fakher, Tlili Abdelaziz, Weckhuysen Sarah, Kinoshita Taroh, Triki Chahnez Charfi, Masmoudi Sab |
| 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 |
| Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine 2023 2 e2160. Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu |
Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.
The Journal of nutrition 2023 2 152 (11): 2333-2342. Weston Eleanor, Pangilinan Faith, Eaton Simon, Orford Michael, Leung Kit-Yi, Copp Andrew J, Mills James L, Molloy Anne M, Brody Lawrence C, Greene Nicholas |
| 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 |
| Early Evidence on Genetic Polymorphisms in Conferring A "Two-Hit" Propensity to Renal Injury in Asian Indian Children. Journal of Indian Association of Pediatric Surgeons 2023 1 27 (6): 741-746. Anand Suramya, Bajpai Minu, Kumar Alok, Kapahtia Siddhar |
| Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios. Global medical genetics 2023 1 10 (1): 6-11. Khan Mahamad Irfanulla, C S Prashanth, Mustak Mohammed S, Nizamuddin Shei |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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