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Page 1
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: muller d. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 Free PMC article.
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Kalff-Suske M, et al. Among authors: muller d. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Robinson PN, et al. Among authors: muller d. Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. Am J Med Genet A. 2005. PMID: 15884042
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Among authors: muller d. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Hum Mutat. 2015. PMID: 25824905
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. Hennies HC, et al. Among authors: muller d. Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9. Nat Genet. 2008. PMID: 18997784 Free PMC article.
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Among authors: muller d. Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 7. Hum Mutat. 2015. PMID: 26457590
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Eckl KM, et al. Among authors: muller d. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2. J Invest Dermatol. 2013. PMID: 23549421 Free article.
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A. Thiel CT, et al. Among authors: muller d. Am J Hum Genet. 2005 Nov;77(5):795-806. doi: 10.1086/497708. Epub 2005 Sep 29. Am J Hum Genet. 2005. PMID: 16252239 Free PMC article.
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K. Harmsen MB, et al. Among authors: muller d. Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277062 Free PMC article.
Wiedemann-Steiner syndrome: three further cases.
Koenig R, Meinecke P, Kuechler A, Schäfer D, Müller D. Koenig R, et al. Among authors: muller d. Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587. Am J Med Genet A. 2010. PMID: 20803650
4,976 results