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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
Tetra-amelia and splenogonadal fusion in Roberts syndrome.
de Ravel TJ, Seftel MD, Wright CA. de Ravel TJ, et al. Am J Med Genet. 1997 Jan 20;68(2):185-9. doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9028456
Postmortem findings in three triploid fetuses.
de Ravel TJ, Wright CA, Moller LI. de Ravel TJ, et al. Birth Defects Orig Artic Ser. 1996;30(1):341-52. Birth Defects Orig Artic Ser. 1996. PMID: 9125338 No abstract available.
Possible isochromosome 22 leading to trisomy 22.
Manasse BF, Pfaffenzeller WM, Gurtunca N, de Ravel TJ. Manasse BF, et al. Among authors: de ravel tj. Am J Med Genet. 2000 Dec 18;95(5):411-4. doi: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q. Am J Med Genet. 2000. PMID: 11146458
Lethal neonatal mandibuloacral dysplasia.
Seftel MD, Wright CA, Po PL, de Ravel TJ. Seftel MD, et al. Among authors: de ravel tj. Am J Med Genet. 1996 Dec 2;66(1):52-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8957511
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: de ravel tj, de leeuw n, de vries bb. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
147 results