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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: niedrist d. 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.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A. Boonsawat P, et al. Among authors: niedrist d. Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7. Genet Med. 2019. PMID: 30842647 Free PMC article.
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: niedrist d. Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13. Mol Syndromol. 2017. PMID: 28878611 Free PMC article.
Chromosome imbalances associated with epilepsy.
Schinzel A, Niedrist D. Schinzel A, et al. Among authors: niedrist d. Am J Med Genet. 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. Am J Med Genet. 2001. PMID: 11579431 Review.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: niedrist d. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Oneda B, Sirleto P, Baldinger R, Taralczak M, Joset P, Zweier M, Niedrist D, Azzarello-Burri S, Britschgi C, Breymann C, Ochsenbein-Kölble N, Burkhardt T, Wisser J, Zimmermann R, Steindl K, Rauch A. Oneda B, et al. Among authors: niedrist d. Eur J Obstet Gynecol Reprod Biol. 2020 Sep;252:19-29. doi: 10.1016/j.ejogrb.2020.05.070. Epub 2020 Jun 2. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32619881
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Survival with trisomy 18--data from Switzerland.
Niedrist D, Riegel M, Achermann J, Schinzel A. Niedrist D, et al. 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
19 results