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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Among authors: patel pi. Hum Mol Genet. 2020 Apr 15;29(6):1054. doi: 10.1093/hmg/ddz307. Hum Mol Genet. 2020. PMID: 32016392 Free PMC article. No abstract available.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Beck TF, et al. Among authors: patel pi. Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5. Hum Mol Genet. 2013. PMID: 23221805 Free PMC article.
Mutation of PAX9 is associated with oligodontia.
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Stockton DW, et al. Among authors: patel pi. Nat Genet. 2000 Jan;24(1):18-9. doi: 10.1038/71634. Nat Genet. 2000. PMID: 10615120 No abstract available.
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X. Zhu H, et al. Among authors: patel pi. Am J Hum Genet. 2011 Jun 10;88(6):819-826. doi: 10.1016/j.ajhg.2011.05.004. Am J Hum Genet. 2011. PMID: 21636067 Free PMC article.
Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Bidichandani SI, et al. Among authors: patel pi. Hum Mol Genet. 1999 Dec;8(13):2425-36. doi: 10.1093/hmg/8.13.2425. Hum Mol Genet. 1999. PMID: 10556290
109 results