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Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Among authors: nurnberg g. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.
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: nurnberg g. 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.
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K. Bergmann C, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17. Am J Hum Genet. 2006. PMID: 17186469 Free PMC article.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B. Riessland M, et al. Among authors: nurnberg p, nurnberg g. Am J Hum Genet. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132687 Free PMC article.
227 results