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Investigation of NRXN1 deletions: clinical and molecular characterization.
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. Dabell MP, et al. Among authors: randolph lm. Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495017
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.
Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. Davidson TB, et al. Among authors: randolph lm. BMC Med Genet. 2012 Mar 22;13:19. doi: 10.1186/1471-2350-13-19. BMC Med Genet. 2012. PMID: 22436304 Free PMC article. Review.
Phenotype of 7q11.23 duplication: A family clinical series.
Earhart BA, Williams ME, Zamora I, Randolph LM, Votava-Smith JK, Marcy SN. Earhart BA, et al. Among authors: randolph lm. Am J Med Genet A. 2017 Jan;173(1):114-119. doi: 10.1002/ajmg.a.37966. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27615053
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: randolph lm. 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.
Hepatoblastoma in a 15-month-old female with trisomy 13.
Shah R, Tran HC, Randolph L, Mascarenhas L, Venkatramani R. Shah R, et al. Am J Med Genet A. 2014 Feb;164A(2):472-5. doi: 10.1002/ajmg.a.36271. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311532
60 results