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Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A. Oneda B, et al. Among authors: schinzel a. Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13. Mol Syndromol. 2017. PMID: 28878611 Free PMC article.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Among authors: schinzel a. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Chromosome imbalances associated with epilepsy.
Schinzel A, Niedrist D. Schinzel A, et al. Am J Med Genet. 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. Am J Med Genet. 2001. PMID: 11579431 Review.
Trisomy 18: changes in sex ratio during intrauterine life.
Niedrist D, Riegel M, Achermann J, Rousson V, Schinzel A. Niedrist D, et al. Among authors: schinzel a. Am J Med Genet A. 2006 Nov 1;140(21):2365-7. doi: 10.1002/ajmg.a.31474. Am J Med Genet A. 2006. PMID: 17022073 Free article. No abstract available.
Survival with trisomy 18--data from Switzerland.
Niedrist D, Riegel M, Achermann J, Schinzel A. Niedrist D, et al. Among authors: schinzel a. Am J Med Genet A. 2006 May 1;140(9):952-9. doi: 10.1002/ajmg.a.31172. Am J Med Genet A. 2006. PMID: 16528741
Pre- and postnatal findings in trisomy 17 mosaicism.
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: schinzel a. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327
Chromosomal map of human brain malformations.
Tyshchenko N, Lurie I, Schinzel A. Tyshchenko N, et al. Among authors: schinzel a. Hum Genet. 2008 Aug;124(1):73-80. doi: 10.1007/s00439-008-0528-2. Epub 2008 Jun 18. Hum Genet. 2008. PMID: 18563447 Free article.
414 results