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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: mori m. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: mori m. Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8. Genet Med. 2019. PMID: 30275510 Free PMC article.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Witters P, et al. Among authors: mori m. Genet Med. 2020 Jun;22(6):1102-1107. doi: 10.1038/s41436-020-0767-8. Epub 2020 Feb 27. Genet Med. 2020. PMID: 32103184 Free PMC article.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E, Murray MF; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]. Abu-El-Haija A, et al. Among authors: mori m. Genet Med. 2023 May;25(5):100803. doi: 10.1016/j.gim.2023.100803. Epub 2023 Mar 15. Genet Med. 2023. PMID: 36920474 Free article. No abstract available.
Focused Revision: Policy statement on folic acid and neural tube defects.
Prasad P, Mori M, Toriello HV; ACMG Professional Practice and Guidelines Committee. Prasad P, et al. Among authors: mori m. Genet Med. 2021 Dec;23(12):2464-2466. doi: 10.1038/s41436-021-01226-6. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230639 Free article. No abstract available.
Pre-pregnancy body mass index and lactational mastitis: The Japan Environment and Children's Study.
Murata T, Imaizumi K, Isogami H, Fukuda T, Kyozuka H, Yasuda S, Yamaguchi A, Mori M, Sato A, Ogata Y, Shinoki K, Hosoya M, Yasumura S, Hashimoto K, Nishigori H, Fujimori K; Japan Environment and Children’s Study (JECS) Group. Murata T, et al. Among authors: mori m. Arch Gynecol Obstet. 2024 Dec 24. doi: 10.1007/s00404-024-07872-w. Online ahead of print. Arch Gynecol Obstet. 2024. PMID: 39719520
Clinical Practice Guidelines for the Management of Congenital Syphilis in Japan, 2023: Executive Summary.
Ito Y, Yamagishi T, Ikenoue C, Ishiwada N, Ito K, Iwatani S, Ouchi K, Kawana K, Shimizu H, Shinjoh M, Takeuchi, Tsugawa T, Funaki T, Furuichi M, Hoshino T, Mikamo H, Miyairi I, Moriuchi H, Morioka I, Yamagishi Y, Mori M. Ito Y, et al. Among authors: mori m. Pediatr Infect Dis J. 2024 Dec 20. doi: 10.1097/INF.0000000000004665. Online ahead of print. Pediatr Infect Dis J. 2024. PMID: 39714794
9,975 results