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Items: 18

1.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T.

Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10.

PMID:
26358773
2.

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Schaefer B, Haschka D, Finkenstedt A, Petersen BS, Theurl I, Henninger B, Janecke AR, Wang CY, Lin HY, Veits L, Vogel W, Weiss G, Franke A, Zoller H.

Hum Mol Genet. 2015 Nov 1;24(21):6254-63. doi: 10.1093/hmg/ddv348. Epub 2015 Aug 26.

PMID:
26310624
3.

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

Fischer U, Forster M, Rinaldi A, Risch T, Sungalee S, Warnatz HJ, Bornhauser B, Gombert M, Kratsch C, Stütz AM, Sultan M, Tchinda J, Worth CL, Amstislavskiy V, Badarinarayan N, Baruchel A, Bartram T, Basso G, Canpolat C, Cario G, Cavé H, Dakaj D, Delorenzi M, Dobay MP, Eckert C, Ellinghaus E, Eugster S, Frismantas V, Ginzel S, Haas OA, Heidenreich O, Hemmrich-Stanisak G, Hezaveh K, Höll JI, Hornhardt S, Husemann P, Kachroo P, Kratz CP, Kronnie GT, Marovca B, Niggli F, McHardy AC, Moorman AV, Panzer-Grümayer R, Petersen BS, Raeder B, Ralser M, Rosenstiel P, Schäfer D, Schrappe M, Schreiber S, Schütte M, Stade B, Thiele R, Weid Nv, Vora A, Zaliova M, Zhang L, Zichner T, Zimmermann M, Lehrach H, Borkhardt A, Bourquin JP, Franke A, Korbel JO, Stanulla M, Yaspo ML.

Nat Genet. 2015 Sep;47(9):1020-9. doi: 10.1038/ng.3362. Epub 2015 Jul 27.

PMID:
26214592
4.

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M.

Gastroenterology. 2015 Nov;149(6):1415-24. doi: 10.1053/j.gastro.2015.07.006. Epub 2015 Jul 17.

PMID:
26193622
5.

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Müller T, Rasool I, Heinz-Erian P, Mildenberger E, Hülstrunk C, Müller A, Michaud L, Koot BG, Ballauff A, Vodopiutz J, Rosipal S, Petersen BS, Franke A, Fuchs I, Witt H, Zoller H, Janecke AR, Visweswariah SS.

Gut. 2015 May 20. pii: gutjnl-2015-309441. doi: 10.1136/gutjnl-2015-309441. [Epub ahead of print]

6.

New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

Backes C, Harz C, Fischer U, Schmitt J, Ludwig N, Petersen BS, Mueller SC, Kim YJ, Wolf NM, Katus HA, Meder B, Furtwängler R, Franke A, Bohle R, Henn W, Graf N, Keller A, Meese E.

Oncotarget. 2015 Mar 20;6(8):5918-31.

7.

The genetics of Crohn's disease and ulcerative colitis--status quo and beyond.

Ellinghaus D, Bethune J, Petersen BS, Franke A.

Scand J Gastroenterol. 2015 Jan;50(1):13-23. doi: 10.3109/00365521.2014.990507. Review.

PMID:
25523552
8.

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.

Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, Laerdahl JK, Stade B, Forster M, Schreiber S, Weir D, Leichtner AM, Franke A, Blumberg RS.

Gut. 2015 Dec;64(12):1889-97. doi: 10.1136/gutjnl-2014-308541. Epub 2014 Nov 3.

PMID:
25367873
9.

CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.

Huang YH, Zhu C, Kondo Y, Anderson AC, Gandhi A, Russell A, Dougan SK, Petersen BS, Melum E, Pertel T, Clayton KL, Raab M, Chen Q, Beauchemin N, Yazaki PJ, Pyzik M, Ostrowski MA, Glickman JN, Rudd CE, Ploegh HL, Franke A, Petsko GA, Kuchroo VK, Blumberg RS.

Nature. 2015 Jan 15;517(7534):386-90. doi: 10.1038/nature13848. Epub 2014 Oct 26.

10.

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LS, Sansom DM, Grimbacher B.

Nat Med. 2014 Dec;20(12):1410-6. doi: 10.1038/nm.3746. Epub 2014 Oct 20.

11.

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

Petersen BS, Spehlmann ME, Raedler A, Stade B, Thomsen I, Rabionet R, Rosenstiel P, Schreiber S, Franke A.

BMC Genomics. 2014 Jul 5;15:564. doi: 10.1186/1471-2164-15-564.

12.

XIAP variants in male Crohn's disease.

Zeissig Y, Petersen BS, Milutinovic S, Bosse E, Mayr G, Peuker K, Hartwig J, Keller A, Kohl M, Laass MW, Billmann-Born S, Brandau H, Feller AC, Röcken C, Schrappe M, Rosenstiel P, Reed JC, Schreiber S, Franke A, Zeissig S.

Gut. 2015 Jan;64(1):66-76. doi: 10.1136/gutjnl-2013-306520. Epub 2014 Feb 26.

PMID:
24572142
13.

Reduced FOXP3(+) regulatory T cells in patients with primary sclerosing cholangitis are associated with IL2RA gene polymorphisms.

Sebode M, Peiseler M, Franke B, Schwinge D, Schoknecht T, Wortmann F, Quaas A, Petersen BS, Ellinghaus E, Baron U, Olek S, Wiegard C, Weiler-Normann C, Lohse AW, Herkel J, Schramm C.

J Hepatol. 2014 May;60(5):1010-6. doi: 10.1016/j.jhep.2013.12.027. Epub 2014 Jan 8.

PMID:
24412607
14.

Base-pair resolution DNA methylome of the EBV-positive Endemic Burkitt lymphoma cell line DAUDI determined by SOLiD bisulfite-sequencing.

Kreck B, Richter J, Ammerpohl O, Barann M, Esser D, Petersen BS, Vater I, Murga Penas EM, Bormann Chung CA, Seisenberger S, Lee Boyd V, Smallwood S, Drexler HG, Macleod RA, Hummel M, Krueger F, Häsler R, Schreiber S, Rosenstiel P, Franke A, Siebert R.

Leukemia. 2013 Aug;27(8):1751-3. doi: 10.1038/leu.2013.4. Epub 2013 Jan 11. No abstract available.

15.

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.

Forster M, Forster P, Elsharawy A, Hemmrich G, Kreck B, Wittig M, Thomsen I, Stade B, Barann M, Ellinghaus D, Petersen BS, May S, Melum E, Schilhabel MB, Keller A, Schreiber S, Rosenstiel P, Franke A.

Nucleic Acids Res. 2013 Jan 7;41(1):e16. doi: 10.1093/nar/gks836. Epub 2012 Sep 10.

16.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.

Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

PMID:
22961002
17.

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Elsharawy A, Forster M, Schracke N, Keller A, Thomsen I, Petersen BS, Stade B, Stähler P, Schreiber S, Rosenstiel P, Franke A.

BMC Genomics. 2012 Aug 22;13:417. doi: 10.1186/1471-2164-13-417.

18.

Simultaneous registration of sleep-stages and bladder activity in enuresis.

Nørgaard JP, Hansen JH, Nielsen JB, Petersen BS, Knudsen N, Djurhuus JC.

Urology. 1985 Sep;26(3):316-9.

PMID:
4035854
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