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New mutations in the ataxia telangiectasia gene.
Baumer A, Bernthaler U, Wolz W, Hoehn H, Schindler D. Baumer A, et al. Among authors: schindler d. Hum Genet. 1996 Aug;98(2):246-9. doi: 10.1007/s004390050202. Hum Genet. 1996. PMID: 8698354
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D. Sandoval N, et al. Among authors: schindler d. Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. Hum Mol Genet. 1999. PMID: 9887333
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
Heinrich T, Prowald C, Friedl R, Gottwald B, Kalb R, Neveling K, Herterich S, Hoehn H, Schindler D. Heinrich T, et al. Among authors: schindler d. Eur J Pediatr. 2006 Apr;165(4):250-7. doi: 10.1007/s00431-005-0037-4. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411093
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Rauch A, et al. Among authors: schindler d. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3. Science. 2008. PMID: 18174396
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. Among authors: schindler d. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Among authors: schindler d. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
506 results