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Page 1
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M. Wiest T, et al. Clin Genet. 2006 Jul;70(1):71-2. doi: 10.1111/j.1399-0004.2006.00631.x. Clin Genet. 2006. PMID: 16813608 No abstract available.
Copy number variation in patients with cervical artery dissection.
Grond-Ginsbach C, Chen B, Pjontek R, Wiest T, Jiang Y, Burwinkel B, Tchatchou S, Krawczak M, Schreiber S, Brandt T, Kloss M, Arnold ML, Hemminki K, Lichy C, Lyrer PA, Hausser I, Engelter ST. Grond-Ginsbach C, et al. Eur J Hum Genet. 2012 Dec;20(12):1295-9. doi: 10.1038/ejhg.2012.82. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617347 Free PMC article.
Familial aortic disease and a large duplication in chromosome 16p13.1.
Erhart P, Brandt T, Straub BK, Hausser I, Hentze S, Böckler D, Grond-Ginsbach C. Erhart P, et al. Mol Genet Genomic Med. 2018 May;6(3):441-445. doi: 10.1002/mgg3.371. Epub 2018 Feb 14. Mol Genet Genomic Med. 2018. PMID: 29441698 Free PMC article.
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, Boncoraglio GB, Taroni F, Gellera C, Baratta S, Penco S, Mosca L, Grasso M, Carrera P, Ferrari M, Cereda C, Grieco G, Corti S, Ronchi D, Bassi MT, Obici L, Parati EA, Pezzini A, De Lodovici ML, Verrengia EP, Bono G, Mazucchelli F, Zarcone D, Calloni MV, Perrone P, Bordo BM, Colombo A, Padovani A, Cavallini A, Beretta S, Ferrarese C, Motto C, Agostoni E, Molini G, Sasanelli F, Corato M, Marcheselli S, Sessa M, Comi G, Checcarelli N, Guidotti M, Uccellini D, Capitani E, Tancredi L, Arnaboldi M, Incorvaia B, Tadeo CS, Fusi L, Grampa G, Merlini G, Trobia N, Comi GP, Braga M, Vitali P, Baron P, Grond-Ginsbach C, Candelise L; Lombardia GENS Group*. Bersano A, et al. Stroke. 2016 Jul;47(7):1702-9. doi: 10.1161/STROKEAHA.115.012281. Epub 2016 May 31. Stroke. 2016. PMID: 27245348
Cervical artery dissection goes frequently undiagnosed.
Grond-Ginsbach C, Metso TM, Metso AJ, Pezzini A, Tatlisumak T, Hakimi M, Grau AJ, Kloss M, Lichy C. Grond-Ginsbach C, et al. Med Hypotheses. 2013 Jun;80(6):787-90. doi: 10.1016/j.mehy.2013.03.012. Epub 2013 Apr 3. Med Hypotheses. 2013. PMID: 23562286
131 results