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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Tan TY, et al. Among authors: hofbeck m. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198724 Free PMC article.
Monozygotic twins concordant for Cayler syndrome.
Rauch A, Hofbeck M, Bähring S, Leipold G, Trautmann U, Singer H, Pfeiffer RA. Rauch A, et al. Among authors: hofbeck m. Am J Med Genet. 1998 Jan 6;75(1):113-7. Am J Med Genet. 1998. PMID: 9450869
Hypoparathyroidism in conotruncal heart defects.
Koch A, Hofbeck M, Buheitel G, Dörr HG, Rauch A, Rauch R, Singer H. Koch A, et al. Among authors: hofbeck m. Eur J Pediatr. 2002 Apr;161(4):208-11. doi: 10.1007/s004310100818. Eur J Pediatr. 2002. PMID: 12014387
A novel 22q11.2 microdeletion in DiGeorge syndrome.
Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M. Rauch A, et al. Among authors: hofbeck m. Am J Hum Genet. 1999 Feb;64(2):659-66. doi: 10.1086/302235. Am J Hum Genet. 1999. PMID: 9973528 Free PMC article. No abstract available.
272 results