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Items: 15

1.

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

Ellison G, Ahdesmäki M, Luke S, Waring PM, Wallace A, Wright R, Röthlisberger B, Ludin K, Merkelbach-Bruse S, Heydt C, Ligtenberg MJL, Mensenkamp AR, de Castro DG, Jones T, Vivancos A, Kondrashova O, Pauwels P, Weyn C, Hahnen E, Hauke J, Soong R, Lai Z, Dougherty B, Carr TH, Johnson J, Mills J, Barrett JC.

Hum Mutat. 2018 Mar;39(3):394-405. doi: 10.1002/humu.23375. Epub 2017 Dec 28.

2.

The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.

Gürtler N, Röthlisberger B, Ludin K, Schlegel C, Lalwani AK.

Otol Neurotol. 2017 Jul;38(6):900-903. doi: 10.1097/MAO.0000000000001432.

PMID:
28419064
3.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V.

Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.

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.

Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27.

5.

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.

Blattner A, Brunner-Agten S, Ludin K, Hergersberg M, Herklotz R, Huber AR, Röthlisberger B.

Blood Cells Mol Dis. 2013 Jun;51(1):39-47. doi: 10.1016/j.bcmd.2013.02.002. Epub 2013 Mar 13.

PMID:
23491071
6.

Functional interactions among members of the meiotic initiation complex in fission yeast.

Steiner S, Kohli J, Ludin K.

Curr Genet. 2010 Jun;56(3):237-49. doi: 10.1007/s00294-010-0296-0. Epub 2010 Apr 3.

PMID:
20364342
7.

Ctp1 and the MRN-complex are required for endonucleolytic Rec12 removal with release of a single class of oligonucleotides in fission yeast.

Rothenberg M, Kohli J, Ludin K.

PLoS Genet. 2009 Nov;5(11):e1000722. doi: 10.1371/journal.pgen.1000722. Epub 2009 Nov 13.

8.

The mating-type-related bias of gene conversion in Schizosaccharomyces pombe.

Parvanov E, Kohli J, Ludin K.

Genetics. 2008 Dec;180(4):1859-68. doi: 10.1534/genetics.108.093005. Epub 2008 Oct 9.

9.

Cohesin and recombination proteins influence the G1-to-S transition in azygotic meiosis in Schizosaccharomyces pombe.

Doll E, Molnar M, Cuanoud G, Octobre G, Latypov V, Ludin K, Kohli J.

Genetics. 2008 Oct;180(2):727-40. doi: 10.1534/genetics.108.092619. Epub 2008 Sep 9.

10.

Sites of strong Rec12/Spo11 binding in the fission yeast genome are associated with meiotic recombination and with centromeres.

Ludin K, Mata J, Watt S, Lehmann E, Bähler J, Kohli J.

Chromosoma. 2008 Oct;117(5):431-44. doi: 10.1007/s00412-008-0159-3. Epub 2008 May 1.

11.

The meiotic recombination hot spot ura4A in Schizosaccharomyces pombe.

Baur M, Hartsuiker E, Lehmann E, Ludin K, Munz P, Kohli J.

Genetics. 2005 Feb;169(2):551-61. Epub 2004 Oct 16.

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The ade4 gene of Schizosaccharomyces pombe: cloning, sequence and regulation.

Ludin KM, Hilti N, Schweingruber ME.

Curr Genet. 1994 May;25(5):465-8.

PMID:
8082193

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