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105 results

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Page 1
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P. Gotthardt D, et al. Among authors: ruschendorf f. Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485. Hepatology. 2008. PMID: 18781607
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Among authors: ruschendorf f. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.
Linkage analysis of alcohol dependence using MOD scores.
Strauch K, Fürst R, Rüschendorf F, Windemuth C, Dietter J, Flaquer A, Baur MP, Wienker TF. Strauch K, et al. Among authors: ruschendorf f. BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S162. doi: 10.1186/1471-2156-6-S1-S162. BMC Genet. 2005. PMID: 16451624 Free PMC article.
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.
Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M. Reutter H, et al. Among authors: ruschendorf f. Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61. doi: 10.1002/bdra.20701. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20672349
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S. Maass PG, et al. Among authors: ruschendorf f. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11. Nat Genet. 2015. PMID: 25961942 Free article.
Primary failure of eruption (PFE)--clinical and molecular genetics analysis.
Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH. Stellzig-Eisenhauer A, et al. Among authors: ruschendorf f. J Orofac Orthop. 2010 Jan;71(1):6-16. doi: 10.1007/s00056-010-0908-9. Epub 2010 Feb 5. J Orofac Orthop. 2010. PMID: 20135246 English, German.
Genome-wide linkage scan for bladder exstrophy-epispadias complex.
Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. Ludwig M, et al. Among authors: ruschendorf f. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):174-8. doi: 10.1002/bdra.20512. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19086019
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: ruschendorf f. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I. Budde BS, et al. Among authors: ruschendorf f. Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19. Hum Genet. 2015. PMID: 25893793 Clinical Trial.
105 results