Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 793 Records) |
Query Trace: Ectropion Inferior Cleft Lip And Or Palate[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 |
The IRF6 rs2013162 and MTHFR A1298C rs1801131 Gene Polymorphisms Related to non-Syndromic Cleft lip and Palate among Deutero-Malay in Indonesia. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 8 10556656231191003. Saskia L Nasroen, Tichvy Tammama, Rudi S Darwis, Almira Adil, Silvia Rahmutia, Ani Melani Maskoen, Basri A Ga |
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. Acta neurologica Belgica 2023 7 . Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqi |
Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 7 10556656231185218. Anny Memon, Fariha Fatima Khidiri, Yar Muhammad Waryah, Roohi Nigar, Munir Ahmad Bhinder, Ahmed Muhammad Shaikh, Hina Shaikh, Ali Muhammad Wary |
Incidence and prevalence of oral candidal colonization in patients with cleft lip and palate. National journal of maxillofacial surgery 2023 6 14 (1): 72-78. Imran Khan, Saiema Ahmedi, Tanveer Ahmad, M Moshaid Alam Rizvi, Nikhat Manzo |
Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 6 10556656231180086. Lilianny Querino Rocha de Oliveira, Hellen Carolliny de Souza Nicolau, Daniella Reis Barbosa Martelli, Hercílio Martelli-Júnior, Rafaela Scariot, Ana Lúcia Carrinho Ayroza Rangel, Silvia Regina de Almeida Reis, Ricardo D Coletta, Renato Assis Macha |
Integrating transcriptomics and genomics to identify fibroblast growth factor/receptor candidate genes for non-syndromic orofacial cleft in Chinese. Archives of oral biology 2023 6 153 105750. Bin Ge, Yansong Lin, Bing Shi, Zhonglin J |
lncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate. DNA and cell biology 2023 6 . Xiaofeng Li, Xinze Xu, Luwei Liu, Yu Tian, Yue Gao, Guirong Zhu, Shu Lou, Weijie Zhong, Dandan Li, Yongchu P |
Dental Anomalies and Genetic Polymorphisms as Predictors of Maxillofacial Growth in Individuals Born with Cleft Lip and Palate. Journal of dental research 2023 6 220345231169915. R H W Lacerda, A R Viei |
Genetic variants in Mammalian STE20-like protein kinase 2 were associated with risk of NSCL/P. Gene 2023 5 873 147459. Xinze Xu, Junyan Lin, Xiaofeng Li, Qinghua Shao, Xing Cui, Guirong Zhu, Shu Lou, Weijie Zhong, Luwei Liu, Yongchu P |
Association of BRCA2 Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population. Genetic testing and molecular biomarkers 2023 5 . Siyuan Guo, Zuo Zhou, Tingting Guo, Yi Xu, Xintao Yang, Yupei Wang, Renji Ch |
A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting. Journal of dental research 2023 5 220345231165210. M-J Li, P Kumari, Y-S Lin, M-L Yao, B-H Zhang, B Yin, S-J Duan, R A Cornell, M L Marazita, B Shi, Z-L J |
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 |
Carcinomas of the minor salivary glands of the oral cavity. A population-based study from the Swedish Head and Neck Cancer Register for 2008-2018. Acta oto-laryngologica 2023 4 1-6. Sterner Freja, Högmo Anders, Tano Krist |
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 |
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P. Journal of human genetics 2023 3 . Tao Hong-Xu, Yang Yi-Xin, Shi Bing, Jia Zhong-L |
Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China. Archives of oral biology 2023 3 149 105660. Ruan Wenyan, Chi Dandan, Wang Yumeng, Ma Jian, Huang Yongqi |
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 |
Integrated Analysis of the Association Between Variants at PAX7 and NSCL/P in the Han Population. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 3 10556656231163398. Yang Cheng-Wei, You Yue, Sun Jia-Lin, Shi Bing, Jia Zhong-L |
Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing. Journal of clinical medicine 2023 3 12 (5): . D?browska Justyna, Biedziak Barbara, Bogdanowicz Agnieszka, Mostowska Adrian |
Depression in Chinese Patients with Cleft Lip and/or Palate: A Preliminary Study. Journal of clinical medicine 2023 2 12 (4): . Xia Weiyao, Yang Renjie, Zong Yuan, Yang Yichun, Xie Zhuojun, Chi Ting, Shi Bing, Gong Caixia, Huang Hany |
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 |
Association of MMP2 and MMP9 gene polymorphisms with nonsyndromic cleft lip/palate in an Iranian population. Journal of dental research, dental clinics, dental prospects 2023 11 17 (3): 149-153. Fatemeh Zahedipour, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh, Koorosh Kamali, Asghar Ebadif |
Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study. Genes 2023 11 14 (11): . Loc Nguyen Gia Pham, Teruyuki Niimi, Satoshi Suzuki, Minh Duc Nguyen, Linh Cao Hoai Nguyen, Tuan Duc Nguyen, Kien Ai Hoang, Duc Minh Nguyen, Chisato Sakuma, Toko Hayakawa, Makino Hiyori, Nagana Natsume, Hiroo Furukawa, Hideto Imura, Junko Akashi, Tohru Ohta, Nagato Natsu |
[Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1517-1520. Xiangyu Zhu, Peixuan Cao, Yujie Zhu, Jie |
MSX1 Gene Polymorphisms in Patients with non-Syndromic Cleft lip and Palate: A Tertiary Care Centre Based Case-Control Study from Central Kerala. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 11 10556656231214131. Arun Jyothish, Alex George, Puthucode V Narayanan, Rajanikant Golgodu Krishnamurt |
Shared genetic risk between major orofacial cleft phenotypes in an African population. Genetic epidemiology 2024 4 . Azeez Alade, Tabitha Peter, Tamara Busch, Waheed Awotoye, Deepti Anand, Oladayo Abimbola, Emmanuel Aladenika, Mojisola Olujitan, Oscar Rysavy, Phuong Fawng Nguyen, Thirona Naicker, Peter A Mossey, Lord J J Gowans, Mekonen A Eshete, Wasiu L Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O'Rorke, Adebowale Adeyemo, Jeffrey C Murray, Salil A Lachke, Paul A Romitti, Azeez Buta |
The potential up-regulation risk of 3' UTR SNP (rs10787760 G?>?A) for the VAX1 gene is associated with NSCLP in the northwest Chinese population. Gene 2024 4 148458. Huan Feng, Bing Wei, Xiaodong Xie, Peiqiang Li, Xi Sh |
Exploring the Relationship between CLPTM1L-MS2 Variants and Susceptibility to Bladder Cancer. Genes 2024 1 15 (1): . Mi-So Jeong, Jeong-Yeon Mun, Gi-Eun Yang, Min-Hye Kim, Sang-Yeop Lee, Yung Hyun Choi, Heui Soo Kim, Jong-Kil Nam, Tae Nam Kim, Sun-Hee Le |
Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population. JPMA. The Journal of the Pakistan Medical Association 2024 1 74 (1): 145-148. Sadia Effendi, Samreen Memon, Feriha Fatima Khidri, Ali Muhammad Wary |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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