Patrignani A - Search Results

1

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Mátyás G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W. Mátyás G, et al. Among authors: patrignani a. Hum Genet. 2007 Aug;122(1):23-32. doi: 10.1007/s00439-007-0371-x. Epub 2007 May 10. Hum Genet. 2007. PMID: 17492313 Free article.

2

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Among authors: patrignani a. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.

3

Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers.

Okoniewski MJ, Meienberg J, Patrignani A, Szabelska A, Matyas G, Schlapbach R. Okoniewski MJ, et al. Among authors: patrignani a. Biotechniques. 2013 Feb;54(2):98-100. doi: 10.2144/000113992. Biotechniques. 2013. PMID: 23384181 Free article.

4

New insights into the performance of human whole-exome capture platforms.

Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G. Meienberg J, et al. Among authors: patrignani a. Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27. Nucleic Acids Res. 2015. PMID: 25820422 Free PMC article.

5

AGRONOMICS1: a new resource for Arabidopsis transcriptome profiling.

Rehrauer H, Aquino C, Gruissem W, Henz SR, Hilson P, Laubinger S, Naouar N, Patrignani A, Rombauts S, Shu H, Van de Peer Y, Vuylsteke M, Weigel D, Zeller G, Hennig L. Rehrauer H, et al. Among authors: patrignani a. Plant Physiol. 2010 Feb;152(2):487-99. doi: 10.1104/pp.109.150185. Epub 2009 Dec 23. Plant Physiol. 2010. PMID: 20032078 Free PMC article.

6

Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms.

Greminger MP, Stölting KN, Nater A, Goossens B, Arora N, Bruggmann R, Patrignani A, Nussberger B, Sharma R, Kraus RH, Ambu LN, Singleton I, Chikhi L, van Schaik CP, Krützen M. Greminger MP, et al. Among authors: patrignani a. BMC Genomics. 2014 Jan 10;15:16. doi: 10.1186/1471-2164-15-16. BMC Genomics. 2014. PMID: 24405840 Free PMC article.

7

Malignant catarrhal fever of cattle is associated with low abundance of IL-2 transcript and a predominantly latent profile of ovine herpesvirus 2 gene expression.

Meier-Trummer CS, Rehrauer H, Franchini M, Patrignani A, Wagner U, Ackermann M. Meier-Trummer CS, et al. Among authors: patrignani a. PLoS One. 2009 Jul 15;4(7):e6265. doi: 10.1371/journal.pone.0006265. PLoS One. 2009. PMID: 19603070 Free PMC article.

8

Design and validation of a partial-genome microarray for transcriptional profiling of the Bradyrhizobium japonicum symbiotic gene region.

Hauser F, Lindemann A, Vuilleumier S, Patrignani A, Schlapbach R, Fischer HM, Hennecke H. Hauser F, et al. Among authors: patrignani a. Mol Genet Genomics. 2006 Jan;275(1):55-67. doi: 10.1007/s00438-005-0059-7. Epub 2005 Nov 17. Mol Genet Genomics. 2006. PMID: 16328374

9

Pushing the limits of de novo genome assembly for complex prokaryotic genomes harboring very long, near identical repeats.

Schmid M, Frei D, Patrignani A, Schlapbach R, Frey JE, Remus-Emsermann MNP, Ahrens CH. Schmid M, et al. Among authors: patrignani a. Nucleic Acids Res. 2018 Sep 28;46(17):8953-8965. doi: 10.1093/nar/gky726. Nucleic Acids Res. 2018. PMID: 30137508 Free PMC article.

10

Highly sensitive, non-invasive detection of colorectal cancer mutations using single molecule, third generation sequencing.

Russo G, Patrignani A, Poveda L, Hoehn F, Scholtka B, Schlapbach R, Garvin AM. Russo G, et al. Among authors: patrignani a. Appl Transl Genom. 2015 Oct 16;7:32-9. doi: 10.1016/j.atg.2015.08.006. eCollection 2015 Dec. Appl Transl Genom. 2015. PMID: 27054083 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

74 results

Search Page

Filters