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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: ruschendorf f. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.
Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.
Stöber G, Saar K, Rüschendorf F, Meyer J, Nürnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H. Stöber G, et al. Among authors: ruschendorf f. Am J Hum Genet. 2000 Nov;67(5):1201-7. doi: 10.1016/S0002-9297(07)62950-4. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001582 Free PMC article.
A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, v Berg A, Hoffmann U, Küster W, Wienker T, Rüschendorf F, Reis A. Lee YA, et al. Among authors: ruschendorf f. Nat Genet. 2000 Dec;26(4):470-3. doi: 10.1038/82625. Nat Genet. 2000. PMID: 11101848
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: ruschendorf f. 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.
105 results