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Items: 1 to 50 of 62

1.

Identification and characterization of a BRAF fusion oncoprotein with retained autoinhibitory domains.

Weinberg F, Griffin R, Fröhlich M, Heining C, Braun S, Spohr C, Iconomou M, Hollek V, Röring M, Horak P, Kreutzfeldt S, Warsow G, Hutter B, Uhrig S, Neumann O, Reuss D, Heiland DH, von Kalle C, Weichert W, Stenzinger A, Brors B, Glimm H, Fröhling S, Brummer T.

Oncogene. 2019 Sep 26. doi: 10.1038/s41388-019-1021-1. [Epub ahead of print]

PMID:
31558800
2.

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma.

Paramasivam N, Hübschmann D, Toprak UH, Ishaque N, Neidert M, Schrimpf D, Stichel D, Reuss D, Sievers P, Reinhardt A, Wefers AK, Jones DTW, Gu Z, Werner J, Uhrig S, Wirsching HG, Schick M, Bewerunge-Hudler M, Beck K, Brehmer S, Urbschat S, Seiz-Rosenhagen M, Hänggi D, Herold-Mende C, Ketter R, Eils R, Ram Z, Pfister SM, Wick W, Weller M, Grossmann R, von Deimling A, Schlesner M, Sahm F.

Acta Neuropathol. 2019 Aug;138(2):295-308. doi: 10.1007/s00401-019-02008-w. Epub 2019 May 8.

PMID:
31069492
3.

Variant classification in precision oncology.

Leichsenring J, Horak P, Kreutzfeldt S, Heining C, Christopoulos P, Volckmar AL, Neumann O, Kirchner M, Ploeger C, Budczies J, Heilig CE, Hutter B, Fröhlich M, Uhrig S, Kazdal D, Allgäuer M, Harms A, Rempel E, Lehmann U, Thomas M, Pfarr N, Azoitei N, Bonzheim I, Marienfeld R, Möller P, Werner M, Fend F, Boerries M, von Bubnoff N, Lassmann S, Longerich T, Bitzer M, Seufferlein T, Malek N, Weichert W, Schirmacher P, Penzel R, Endris V, Brors B, Klauschen F, Glimm H, Fröhling S, Stenzinger A.

Int J Cancer. 2019 Dec 1;145(11):2996-3010. doi: 10.1002/ijc.32358. Epub 2019 May 21.

PMID:
31008532
4.

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.

Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.

5.

P300 indicates context-dependent change in speech quality beyond phonological change.

Uhrig S, Mittag G, Möller S, Voigt-Antons JN.

J Neural Eng. 2019 Oct 14;16(6):066008. doi: 10.1088/1741-2552/ab1673.

PMID:
30952146
6.

RSPO2 gene rearrangement: a powerful driver of β-catenin activation in liver tumours.

Longerich T, Endris V, Neumann O, Rempel E, Kirchner M, Abadi Z, Uhrig S, Kriegsmann M, Weiss KH, Breuhahn K, Mehrabi A, Weber TF, Wilkens L, Straub BK, Rosenwald A, Schulze F, Brors B, Froehling S, Pellegrino R, Budczies J, Schirmacher P, Stenzinger A.

Gut. 2019 Jul;68(7):1287-1296. doi: 10.1136/gutjnl-2018-317632. Epub 2019 Feb 2.

PMID:
30901310
7.

Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.

Horak P, Weischenfeldt J, von Amsberg G, Beyer B, Schütte A, Uhrig S, Gieldon L, Klink B, Feuerbach L, Hübschmann D, Kreutzfeldt S, Heining C, Maier S, Hutter B, Penzel R, Schlesner M, Eils R, Sauter G, Stenzinger A, Brors B, Schröck E, Glimm H, Fröhling S, Schlomm T.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003657. doi: 10.1101/mcs.a003657. Print 2019 Apr.

8.

Neural correlates of speech quality dimensions analyzed using electroencephalography (EEG).

Uhrig S, Mittag G, Möller S, Voigt-Antons JN.

J Neural Eng. 2019 Jun;16(3):036009. doi: 10.1088/1741-2552/aaf122. Epub 2018 Nov 15.

PMID:
30523930
9.

PingPongPro: a tool for the detection of piRNA-mediated transposon-silencing in small RNA-Seq data.

Uhrig S, Klein H.

Bioinformatics. 2019 Jan 15;35(2):335-336. doi: 10.1093/bioinformatics/bty578.

PMID:
29985981
10.

NRG1 Fusions in KRAS Wild-Type Pancreatic Cancer.

Heining C, Horak P, Uhrig S, Codo PL, Klink B, Hutter B, Fröhlich M, Bonekamp D, Richter D, Steiger K, Penzel R, Endris V, Ehrenberg KR, Frank S, Kleinheinz K, Toprak UH, Schlesner M, Mandal R, Schulz L, Lambertz H, Fetscher S, Bitzer M, Malek NP, Horger M, Giese NA, Strobel O, Hackert T, Springfeld C, Feuerbach L, Bergmann F, Schröck E, von Kalle C, Weichert W, Scholl C, Ball CR, Stenzinger A, Brors B, Fröhling S, Glimm H.

Cancer Discov. 2018 Sep;8(9):1087-1095. doi: 10.1158/2159-8290.CD-18-0036. Epub 2018 May 25.

11.

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.

Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.

PMID:
29740868
12.

Targeted overexpression of CRH receptor subtype 1 in central amygdala neurons: effect on alcohol-seeking behavior.

Broccoli L, Uhrig S, von Jonquieres G, Schönig K, Bartsch D, Justice NJ, Spanagel R, Sommer WH, Klugmann M, Hansson AC.

Psychopharmacology (Berl). 2018 Jun;235(6):1821-1833. doi: 10.1007/s00213-018-4908-6. Epub 2018 Apr 26.

PMID:
29700576
13.

Oxytocin Reduces Alcohol Cue-Reactivity in Alcohol-Dependent Rats and Humans.

Hansson AC, Koopmann A, Uhrig S, Bühler S, Domi E, Kiessling E, Ciccocioppo R, Froemke RC, Grinevich V, Kiefer F, Sommer WH, Vollstädt-Klein S, Spanagel R.

Neuropsychopharmacology. 2018 May;43(6):1235-1246. doi: 10.1038/npp.2017.257. Epub 2017 Nov 1.

14.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA.

Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19.

15.

Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer.

Czink E, Kloor M, Goeppert B, Fröhling S, Uhrig S, Weber TF, Meinel J, Sutter C, Weiss KH, Schirmacher P, Doeberitz MVK, Jäger D, Springfeld C.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001974. doi: 10.1101/mcs.a001974. Print 2017 Sep.

16.

Precision oncology based on omics data: The NCT Heidelberg experience.

Horak P, Klink B, Heining C, Gröschel S, Hutter B, Fröhlich M, Uhrig S, Hübschmann D, Schlesner M, Eils R, Richter D, Pfütze K, Geörg C, Meißburger B, Wolf S, Schulz A, Penzel R, Herpel E, Kirchner M, Lier A, Endris V, Singer S, Schirmacher P, Weichert W, Stenzinger A, Schlenk RF, Schröck E, Brors B, von Kalle C, Glimm H, Fröhling S.

Int J Cancer. 2017 Sep 1;141(5):877-886. doi: 10.1002/ijc.30828. Epub 2017 Jun 21.

17.

Ex vivo drug response profiling detects recurrent sensitivity patterns in drug-resistant acute lymphoblastic leukemia.

Frismantas V, Dobay MP, Rinaldi A, Tchinda J, Dunn SH, Kunz J, Richter-Pechanska P, Marovca B, Pail O, Jenni S, Diaz-Flores E, Chang BH, Brown TJ, Collins RH, Uhrig S, Balasubramanian GP, Bandapalli OR, Higi S, Eugster S, Voegeli P, Delorenzi M, Cario G, Loh ML, Schrappe M, Stanulla M, Kulozik AE, Muckenthaler MU, Saha V, Irving JA, Meisel R, Radimerski T, Von Stackelberg A, Eckert C, Tyner JW, Horvath P, Bornhauser BC, Bourquin JP.

Blood. 2017 Mar 16;129(11):e26-e37. doi: 10.1182/blood-2016-09-738070. Epub 2017 Jan 25.

18.

Differential Roles for L-Type Calcium Channel Subtypes in Alcohol Dependence.

Uhrig S, Vandael D, Marcantoni A, Dedic N, Bilbao A, Vogt MA, Hirth N, Broccoli L, Bernardi RE, Schönig K, Gass P, Bartsch D, Spanagel R, Deussing JM, Sommer WH, Carbone E, Hansson AC.

Neuropsychopharmacology. 2017 Apr;42(5):1058-1069. doi: 10.1038/npp.2016.266. Epub 2016 Dec 1.

19.

Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Gröschel S, Bommer M, Hutter B, Budczies J, Bonekamp D, Heining C, Horak P, Fröhlich M, Uhrig S, Hübschmann D, Geörg C, Richter D, Pfarr N, Pfütze K, Wolf S, Schirmacher P, Jäger D, von Kalle C, Brors B, Glimm H, Weichert W, Stenzinger A, Fröhling S.

Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001180.

20.

Genetic Deletion of Neuronal PPARγ Enhances the Emotional Response to Acute Stress and Exacerbates Anxiety: An Effect Reversed by Rescue of Amygdala PPARγ Function.

Domi E, Uhrig S, Soverchia L, Spanagel R, Hansson AC, Barbier E, Heilig M, Ciccocioppo R, Ubaldi M.

J Neurosci. 2016 Dec 14;36(50):12611-12623. Epub 2016 Nov 3.

21.

Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL.

Roeben B, Uhrig S, Bender B, Synofzik M.

Neurology. 2016 Apr 12;86(15):e166-e167. doi: 10.1212/WNL.0000000000002572. No abstract available.

PMID:
27163668
22.

Reduced oxytocin receptor gene expression and binding sites in different brain regions in schizophrenia: A post-mortem study.

Uhrig S, Hirth N, Broccoli L, von Wilmsdorff M, Bauer M, Sommer C, Zink M, Steiner J, Frodl T, Malchow B, Falkai P, Spanagel R, Hansson AC, Schmitt A.

Schizophr Res. 2016 Nov;177(1-3):59-66. doi: 10.1016/j.schres.2016.04.019. Epub 2016 Apr 25.

PMID:
27132494
23.

Convergent evidence from alcohol-dependent humans and rats for a hyperdopaminergic state in protracted abstinence.

Hirth N, Meinhardt MW, Noori HR, Salgado H, Torres-Ramirez O, Uhrig S, Broccoli L, Vengeliene V, Roßmanith M, Perreau-Lenz S, Köhr G, Sommer WH, Spanagel R, Hansson AC.

Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):3024-9. doi: 10.1073/pnas.1506012113. Epub 2016 Feb 22.

24.

Community rabies knowledge and pet vaccination practices after a skunk rabies outbreak in Eddy County, New Mexico.

McNeil CS, Nagy S, Moonan C, Wallace RM, Vora NM, Dyer JL, Blanton JD, Dorado T, Heinrich ML, Sankey R, Uhrig S, Cary A, Houghton W, Ettestad P.

J Am Vet Med Assoc. 2015 Jun 1;246(11):1242-7. doi: 10.2460/javma.246.11.1242.

PMID:
25970222
25.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. No abstract available.

26.

Congenital pulmonary lymphangiectasis.

Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B.

Paediatr Respir Rev. 2014 Sep;15(3):275-80. doi: 10.1016/j.prrv.2014.05.002. Epub 2014 May 29. Review.

PMID:
24997116
27.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

28.

Transcriptional regulation of L-type calcium channel subtypes Cav1.2 and Cav1.3 by nicotine and their potential role in nicotine sensitization.

Bernardi RE, Uhrig S, Spanagel R, Hansson AC.

Nicotine Tob Res. 2014 Jun;16(6):774-85. doi: 10.1093/ntr/ntt274. Epub 2014 Jan 27.

PMID:
24470632
29.

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K, Förster-Waldl E.

J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15.

30.

Evaluation of transmission of Brucella abortus strain 19 in bison by intravaginal, intrauterine, and intraconjunctival inoculation.

Uhrig SR, Nol P, McCollum M, Salman M, Rhyan JC.

J Wildl Dis. 2013 Jul;49(3):522-6. doi: 10.7589/2012-03-071.

PMID:
23778600
31.

Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.

Orendi K, Uhrig S, Mach M, Tschepper P, Speicher MR.

Am J Med Genet A. 2013 Jul;161A(7):1806-12. doi: 10.1002/ajmg.a.35986. Epub 2013 May 21. Review. No abstract available.

PMID:
23695988
32.

The mGluR2/3 agonist LY379268 induced anti-reinstatement effects in rats exhibiting addiction-like behavior.

Cannella N, Halbout B, Uhrig S, Evrard L, Corsi M, Corti C, Deroche-Gamonet V, Hansson AC, Spanagel R.

Neuropsychopharmacology. 2013 Sep;38(10):2048-56. doi: 10.1038/npp.2013.106. Epub 2013 Apr 29.

33.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D.

Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.

PMID:
23425300
34.

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

Sperl D, Benesch M, Urban C, Lackner H, Sovinz P, Speicher MR, Uhrig S, Schwarzbraun T, Schwinger W, zur Stadt U, Beutel K, Janka G, Scarpatetti M, Seidel MG.

Klin Padiatr. 2012 Oct;224(6):386-9. doi: 10.1055/s-0032-1323836. Epub 2012 Nov 9.

PMID:
23143765
35.

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.

Nagel B, Gruber-Sedlmayr U, Uhrig S, Stöllberger C, Klopocki E, Finsterer J.

BMC Med Genet. 2012 Jul 25;13:60. doi: 10.1186/1471-2350-13-60.

36.

Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.

Schwetz V, Uhrig S, Spuller E, Deutschmann A, Högenauer C.

Eur J Gastroenterol Hepatol. 2012 Aug;24(8):988-94. doi: 10.1097/MEG.0b013e328354f43e.

PMID:
22617360
37.

Successful target cell transduction of capsid-engineered rAAV vectors requires clathrin-dependent endocytosis.

Uhrig S, Coutelle O, Wiehe T, Perabo L, Hallek M, Büning H.

Gene Ther. 2012 Feb;19(2):210-8. doi: 10.1038/gt.2011.78. Epub 2011 Jun 9.

PMID:
21654820
38.

Intrinsic phospholipase A2 activity of adeno-associated virus is involved in endosomal escape of incoming particles.

Stahnke S, Lux K, Uhrig S, Kreppel F, Hösel M, Coutelle O, Ogris M, Hallek M, Büning H.

Virology. 2011 Jan 5;409(1):77-83. doi: 10.1016/j.virol.2010.09.025. Epub 2010 Oct 25.

39.

Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.

Sovinz P, Urban C, Uhrig S, Stepan V, Lackner H, Schwinger W, Benesch M, Moser A, Spuller E, Speicher MR.

Am J Med Genet A. 2010 Jul;152A(7):1752-5. doi: 10.1002/ajmg.a.33407.

PMID:
20583150
40.

Clinical evaluation of perioperative administration of gabapentin as an adjunct for postoperative analgesia in dogs undergoing amputation of a forelimb.

Wagner AE, Mich PM, Uhrig SR, Hellyer PW.

J Am Vet Med Assoc. 2010 Apr 1;236(7):751-6. doi: 10.2460/javma.236.7.751.

PMID:
20367041
41.

Evaluation of two short-term anesthetic protocols in captive juvenile pronghorn (Antilocapra americana).

Mama KR, Uhrig S, Miller DS, Harris L, Syndergaard M, Regnier M, Rhyan JC.

J Zoo Wildl Med. 2009 Dec;40(4):803-5.

PMID:
20063831
42.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

43.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PMID:
18042262
44.

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

Uhrig S, Schlembach D, Waldispuehl-Geigl J, Schaffer W, Geigl J, Klopocki E, Mundlos S, Speicher MR.

Am J Hum Genet. 2007 Oct;81(4):866-8. No abstract available.

45.

Multiplex-fluorescence in situ hybridization for chromosome karyotyping.

Geigl JB, Uhrig S, Speicher MR.

Nat Protoc. 2006;1(3):1172-84.

PMID:
17406400
46.

[Genetic counseling in multiple pregnancies].

Uhrig S, Geigl JB, Speicher MR.

Gynakol Geburtshilfliche Rundsch. 2007;47(1):9-13. German.

PMID:
17272932
47.

The role of Arabidopsis SCAR genes in ARP2-ARP3-dependent cell morphogenesis.

Uhrig JF, Mutondo M, Zimmermann I, Deeks MJ, Machesky LM, Thomas P, Uhrig S, Rambke C, Hussey PJ, Hülskamp M.

Development. 2007 Mar;134(5):967-77. Epub 2007 Jan 31.

48.

Pharmacokinetics and pharmacodynamics of morphine in llamas.

Uhrig SR, Papich MG, KuKanich B, Mama KR, Wagner AE, Chapman PL, Hellyer PW.

Am J Vet Res. 2007 Jan;68(1):25-34.

PMID:
17199415
49.
50.

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Fauth C, Gribble SM, Porter KM, Codina-Pascual M, Ng BL, Kraus J, Uhrig S, Leifheit J, Haaf T, Fiegler H, Carter NP, Speicher MR.

Hum Genet. 2006 Mar;119(1-2):145-53. Epub 2006 Jan 3.

PMID:
16395598

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