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Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Lupiáñez DG, et al. Among authors: opitz jm. Cell. 2015 May 21;161(5):1012-1025. doi: 10.1016/j.cell.2015.04.004. Epub 2015 May 7. Cell. 2015. PMID: 25959774 Free PMC article.
Intrauterine amputations after amniocentesis.
Opitz JM, Laxova R, Herrmann J. Opitz JM, et al. Lancet. 1978 Apr 1;1(8066):716. doi: 10.1016/s0140-6736(78)90826-7. Lancet. 1978. PMID: 76252 No abstract available.
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: opitz jm. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
Heterogeneity and minor anomalies.
Opitz JM. Opitz JM. Am J Med Genet. 2000 Apr 10;91(4):254-5. doi: 10.1002/(sici)1096-8628(20000410)91:4<254::aid-ajmg2>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10766978 No abstract available.
Comment: The midline.
Opitz JM. Opitz JM. Am J Med Genet A. 2015 Nov;167A(11):2566-7. doi: 10.1002/ajmg.a.37245. Epub 2015 Jul 29. Am J Med Genet A. 2015. PMID: 26219629 No abstract available.
The short umbilical cord.
Grange DK, Arya S, Opitz JM, Laxova R, Herrmann J, Gilbert EF. Grange DK, et al. Among authors: opitz jm. Birth Defects Orig Artic Ser. 1987;23(1):191-214. Birth Defects Orig Artic Ser. 1987. PMID: 3580549 No abstract available.
475 results