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Items: 1 to 50 of 232

1.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 May 27. doi: 10.1002/humu.23818. [Epub ahead of print]

PMID:
31131967
2.

Post-weaning Exposure to High-Fat Diet Induces Kidney Lipid Accumulation and Function Impairment in Adult Rats.

Muller CR, Leite APO, Yokota R, Pereira RO, Americo ALV, Nascimento NRF, Evangelista FS, Farah V, Fonteles MC, Fiorino P.

Front Nutr. 2019 May 3;6:60. doi: 10.3389/fnut.2019.00060. eCollection 2019.

3.

Reversible Exsolution of Dopant Improves the Performance of Ca2Fe2O5 for Chemical Looping Hydrogen Production.

Hosseini D, Donat F, Abdala PM, Kim SM, Kierzkowska AM, Müller CR.

ACS Appl Mater Interfaces. 2019 May 22;11(20):18276-18284. doi: 10.1021/acsami.8b16732. Epub 2019 May 8.

PMID:
31038301
4.

Aerobic exercise training prevents obesity and insulin resistance independent of the renin angiotensin system modulation in the subcutaneous white adipose tissue.

Américo ALV, Muller CR, Vecchiatto B, Martucci LF, Fonseca-Alaniz MH, Evangelista FS.

PLoS One. 2019 Apr 25;14(4):e0215896. doi: 10.1371/journal.pone.0215896. eCollection 2019.

5.

Gravitational instabilities in binary granular materials.

McLaren CP, Kovar TM, Penn A, Müller CR, Boyce CM.

Proc Natl Acad Sci U S A. 2019 May 7;116(19):9263-9268. doi: 10.1073/pnas.1820820116. Epub 2019 Apr 22.

PMID:
31010930
6.

Atomic Layer Deposition of a Film of Al2O3 on Electrodeposited Copper Foams To Yield Highly Effective Oxygen Carriers for Chemical Looping Combustion-Based CO2 Capture.

Yüzbasi NS, Armutlulu A, Abdala PM, Müller CR.

ACS Appl Mater Interfaces. 2018 Nov 7;10(44):37994-38005. doi: 10.1021/acsami.8b11653. Epub 2018 Oct 29.

PMID:
30251832
7.

Aerobic exercise training prevents kidney lipid deposition in mice fed a cafeteria diet.

Muller CR, Américo ALV, Fiorino P, Evangelista FS.

Life Sci. 2018 Oct 15;211:140-146. doi: 10.1016/j.lfs.2018.09.017. Epub 2018 Sep 12.

PMID:
30218720
8.

Common and well-documented HLA alleles of German stem cell donors by haplotype frequency estimation.

Eberhard HP, Schmidt AH, Mytilineos J, Fleischhauer K, Müller CR.

HLA. 2018 Oct;92(4):206-214. doi: 10.1111/tan.13378.

9.

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.

Lippert J, Appenzeller S, Liang R, Sbiera S, Kircher S, Altieri B, Nanda I, Weigand I, Gehrig A, Steinhauer S, Riemens RJM, Rosenwald A, Müller CR, Kroiss M, Rost S, Fassnacht M, Ronchi CL.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4511-4523. doi: 10.1210/jc.2018-01348.

PMID:
30113656
10.

Optimization of the structural characteristics of CaO and its effective stabilization yield high-capacity CO2 sorbents.

Naeem MA, Armutlulu A, Imtiaz Q, Donat F, Schäublin R, Kierzkowska A, Müller CR.

Nat Commun. 2018 Jun 19;9(1):2408. doi: 10.1038/s41467-018-04794-5.

11.

The effect of copper on the redox behaviour of iron oxide for chemical-looping hydrogen production probed by in situ X-ray absorption spectroscopy.

Yüzbasi NS, Abdala PM, Imtiaz Q, Kim SM, Kierzkowska AM, Armutlulu A, van Beek W, Müller CR.

Phys Chem Chem Phys. 2018 May 9;20(18):12736-12745. doi: 10.1039/c8cp01309h.

PMID:
29697120
12.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.

Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.

13.

Real-time probing of granular dynamics with magnetic resonance.

Penn A, Tsuji T, Brunner DO, Boyce CM, Pruessmann KP, Müller CR.

Sci Adv. 2017 Sep 15;3(9):e1701879. doi: 10.1126/sciadv.1701879. eCollection 2017 Sep.

14.

CaO-Based CO2 Sorbents Effectively Stabilized by Metal Oxides.

Naeem MA, Armutlulu A, Imtiaz Q, Müller CR.

Chemphyschem. 2017 Nov 17;18(22):3280-3285. doi: 10.1002/cphc.201700695. Epub 2017 Oct 17.

PMID:
28834025
15.

Multishelled CaO Microspheres Stabilized by Atomic Layer Deposition of Al2 O3 for Enhanced CO2 Capture Performance.

Armutlulu A, Naeem MA, Liu HJ, Kim SM, Kierzkowska A, Fedorov A, Müller CR.

Adv Mater. 2017 Nov;29(41). doi: 10.1002/adma.201702896. Epub 2017 Aug 22.

PMID:
28833617
16.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J.

Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.

17.

Molecularly Tailored Nickel Precursor and Support Yield a Stable Methane Dry Reforming Catalyst with Superior Metal Utilization.

Margossian T, Larmier K, Kim SM, Krumeich F, Fedorov A, Chen P, Müller CR, Copéret C.

J Am Chem Soc. 2017 May 24;139(20):6919-6927. doi: 10.1021/jacs.7b01625. Epub 2017 May 9.

PMID:
28445048
18.

Increased age-associated mortality risk in HLA-mismatched hematopoietic stem cell transplantation.

Fürst D, Niederwieser D, Bunjes D, Wagner EM, Gramatzki M, Wulf G, Müller CR, Neuchel C, Tsamadou C, Schrezenmeier H, Mytilineos J.

Haematologica. 2017 Apr;102(4):796-803. doi: 10.3324/haematol.2016.151340. Epub 2017 Jan 5.

19.

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.

Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.

JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.

20.

Mutational spectrum and deep intronic variants in the factor VIII gene of haemophilia A patients. Identification by next generation sequencing.

Bach JE, Oldenburg J, Müller CR, Rost S.

Hamostaseologie. 2016 Nov 8;36(Suppl. 2):S25-S28.

PMID:
27824209
21.

Disruption of beta3 adrenergic receptor increases susceptibility to DIO in mouse.

Preite NZ, Nascimento BP, Muller CR, Américo AL, Higa TS, Evangelista FS, Lancellotti CL, Henriques FS, Batista ML Jr, Bianco AC, Ribeiro MO.

J Endocrinol. 2016 Dec;231(3):259-269. Epub 2016 Sep 26.

22.

The development of effective CaO-based CO2 sorbents via a sacrificial templating technique.

Naeem MA, Armutlulu A, Broda M, Lebedev D, Müller CR.

Faraday Discuss. 2016 Oct 20;192:85-95.

PMID:
27479522
23.

Evading Vacuum Noise: Wigner Projections or Husimi Samples?

Müller CR, Peuntinger C, Dirmeier T, Khan I, Vogl U, Marquardt Ch, Leuchs G, Sánchez-Soto LL, Teo YS, Hradil Z, Řeháček J.

Phys Rev Lett. 2016 Aug 12;117(7):070801. doi: 10.1103/PhysRevLett.117.070801. Epub 2016 Aug 11.

PMID:
27563944
24.

Mechanochemically Activated, Calcium Oxide-Based, Magnesium Oxide-Stabilized Carbon Dioxide Sorbents.

Kurlov A, Broda M, Hosseini D, Mitchell SJ, Pérez-Ramírez J, Müller CR.

ChemSusChem. 2016 Sep 8;9(17):2380-90. doi: 10.1002/cssc.201600510. Epub 2016 Aug 16.

PMID:
27529608
25.

Exposure to high-fat diet since post-weaning induces cardiometabolic damage in adult rats.

Fiorino P, Américo ALV, Muller CR, Evangelista FS, Santos F, Leite APO, Farah V.

Life Sci. 2016 Sep 1;160:12-17. doi: 10.1016/j.lfs.2016.07.001. Epub 2016 Jul 7.

PMID:
27396508
26.

Single-Step Electrophoretic Deposition of Non-noble Metal Catalyst Layer with Low Onset Voltage for Ethanol Electro-oxidation.

Ahmadi Daryakenari A, Hosseini D, Ho YL, Saito T, Apostoluk A, Müller CR, Delaunay JJ.

ACS Appl Mater Interfaces. 2016 Jun 29;8(25):15975-84. doi: 10.1021/acsami.5b12509. Epub 2016 Jun 20.

PMID:
27295080
27.

Human leukocyte antigen supertype matching after myeloablative hematopoietic cell transplantation with 7/8 matched unrelated donor allografts: a report from the Center for International Blood and Marrow Transplant Research.

Lazaryan A, Wang T, Spellman SR, Wang HL, Pidala J, Nishihori T, Askar M, Olsson R, Oudshoorn M, Abdel-Azim H, Yong A, Gandhi M, Dandoy C, Savani B, Hale G, Page K, Bitan M, Reshef R, Drobyski W, Marsh SG, Schultz K, Müller CR, Fernandez-Viña MA, Verneris MR, Horowitz MM, Arora M, Weisdorf DJ, Lee SJ.

Haematologica. 2016 Oct;101(10):1267-1274. Epub 2016 May 31.

28.

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S.

Eur J Hum Genet. 2016 Oct;24(10):1467-72. doi: 10.1038/ejhg.2016.41. Epub 2016 May 25.

29.

A comparative reference study for the validation of HLA-matching algorithms in the search for allogeneic hematopoietic stem cell donors and cord blood units.

Bochtler W, Gragert L, Patel ZI, Robinson J, Steiner D, Hofmann JA, Pingel J, Baouz A, Melis A, Schneider J, Eberhard HP, Oudshoorn M, Marsh SG, Maiers M, Müller CR.

HLA. 2016 Jun;87(6):439-48. doi: 10.1111/tan.12817. Epub 2016 May 24.

30.

Na(+) doping induced changes in the reduction and charge transport characteristics of Al2O3-stabilized, CuO-based materials for CO2 capture.

Imtiaz Q, Abdala PM, Kierzkowska AM, van Beek W, Schweiger S, Rupp JL, Müller CR.

Phys Chem Chem Phys. 2016 Apr 28;18(17):12278-88. doi: 10.1039/c6cp00257a.

PMID:
27080470
31.

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.

Johannsen S, Treves S, Müller CR, Mögele S, Schneiderbanger D, Roewer N, Schuster F.

Neuromuscul Disord. 2016 Jan;26(1):21-5. doi: 10.1016/j.nmd.2015.11.001. Epub 2015 Nov 11.

PMID:
26631338
32.

Development of a Steel-Slag-Based, Iron-Functionalized Sorbent for an Autothermal Carbon Dioxide Capture Process.

Tian S, Jiang J, Hosseini D, Kierzkowska AM, Imtiaz Q, Broda M, Müller CR.

ChemSusChem. 2015 Nov;8(22):3839-46. doi: 10.1002/cssc.201501048. Epub 2015 Oct 13.

PMID:
26616682
33.

Physical training improves body weight and energy balance but does not protect against hepatic steatosis in obese mice.

Evangelista FS, Muller CR, Stefano JT, Torres MM, Muntanelli BR, Simon D, Alvares-da-Silva MR, Pereira IV, Cogliati B, Carrilho FJ, Oliveira CP.

Int J Clin Exp Med. 2015 Jul 15;8(7):10911-9. eCollection 2015.

34.

[Change in the socio-demographic profile of consumers of organic produce].

Pereira MC, Müller CR, Rodrigues FS, Moutinho AB, Rodrigues KL, Botelho FT.

Cien Saude Colet. 2015 Sep;20(9):2797-804. doi: 10.1590/1413-81232015209.12002014. Portuguese.

35.

Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene.

Bach JE, Müller CR, Rost S.

Thromb Haemost. 2016 Jan;115(1):222-4. doi: 10.1160/TH15-05-0399. Epub 2015 Aug 6. No abstract available.

PMID:
26246214
36.

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.

Hopkins PM, Rüffert H, Snoeck MM, Girard T, Glahn KP, Ellis FR, Müller CR, Urwyler A; European Malignant Hyperthermia Group.

Br J Anaesth. 2015 Oct;115(4):531-9. doi: 10.1093/bja/aev225. Epub 2015 Jul 18.

37.

Malignant hyperthermia, a Scandinavian update.

Broman M, Islander G, Müller CR.

Acta Anaesthesiol Scand. 2015 Sep;59(8):951-61. doi: 10.1111/aas.12541. Epub 2015 May 18. Review.

PMID:
25989378
38.

Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.

Bach JE, Wolf B, Oldenburg J, Müller CR, Rost S.

Thromb Haemost. 2015 Oct;114(4):757-67. doi: 10.1160/TH14-12-1011. Epub 2015 May 7.

PMID:
25948085
39.

Highly Efficient Oxygen-Storage Material with Intrinsic Coke Resistance for Chemical Looping Combustion-Based CO2 Capture.

Imtiaz Q, Kurlov A, Rupp JL, Müller CR.

ChemSusChem. 2015 Jun 22;8(12):2055-65. doi: 10.1002/cssc.201403426. Epub 2015 Apr 27.

PMID:
25916240
40.

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR.

Eur J Hum Genet. 2015 Jun;23(6):808-16. doi: 10.1038/ejhg.2014.191. Epub 2014 Nov 5.

41.

The Impact of HLA-C Matching on Donor Identification Rates in a European-Caucasian Population.

Eberhard HP, Müller CR.

Front Immunol. 2014 Oct 15;5:501. doi: 10.3389/fimmu.2014.00501. eCollection 2014.

42.

Ethical media competence as a protective factor against cyberbullying and cybervictimization among german school students.

Müller CR, Pfetsch J, Ittel A.

Cyberpsychol Behav Soc Netw. 2014 Oct;17(10):644-51. doi: 10.1089/cyber.2014.0168.

PMID:
25272238
43.

Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.

Broman M, Kleinschnitz I, Bach JE, Rost S, Islander G, Müller CR.

Clin Genet. 2015 Oct;88(4):381-5. doi: 10.1111/cge.12508. Epub 2014 Oct 21.

PMID:
25256590
44.

Distribution of squeezed states through an atmospheric channel.

Peuntinger C, Heim B, Müller CR, Gabriel C, Marquardt C, Leuchs G.

Phys Rev Lett. 2014 Aug 8;113(6):060502. Epub 2014 Aug 4.

PMID:
25148309
45.

[Coping of cybervictimization in adolescence - emotional and behavioral reactions to cyberbullying ].

Ittel A, Müller CR, Pfetsch J, Walk S.

Prax Kinderpsychol Kinderpsychiatr. 2014;63(5):343-60. doi: 10.13109/prkk.2014.63.5.343. German.

PMID:
24877776
46.

Effect of pelletization and addition of steam on the cyclic performance of carbon-templated, CaO-based CO2 sorbents.

Broda M, Manovic V, Anthony EJ, Müller CR.

Environ Sci Technol. 2014 May 6;48(9):5322-8. doi: 10.1021/es405668f. Epub 2014 Apr 15.

PMID:
24678727
47.

Cytotoxic T-lymphocyte antigen-4 single nucleotide polymorphisms are not associated with outcomes after unrelated donor transplantation: a center for international blood and marrow transplant research analysis.

Sengsayadeth S, Wang T, Lee SJ, Haagenson MD, Spellman S, Fernandez Viña MA, Muller CR, Verneris MR, Savani BN, Jagasia M.

Biol Blood Marrow Transplant. 2014 Jun;20(6):900-3. doi: 10.1016/j.bbmt.2014.03.005. Epub 2014 Mar 14.

48.

Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation.

Zimmermann MA, Oldenburg J, Müller CR, Rost S.

Haemophilia. 2014 May;20(3):e215-21. doi: 10.1111/hae.12388. Epub 2014 Mar 7.

PMID:
24602271
49.

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.

Müller E, Keller A, Fregin A, Müller CR, Rost S.

BMC Genet. 2014 Feb 4;15:17. doi: 10.1186/1471-2156-15-17.

50.

Comparative genetics of warfarin resistance.

Oldenburg J, Müller CR, Rost S, Watzka M, Bevans CG.

Hamostaseologie. 2014;34(2):143-59. doi: 10.5482/HAMO-13-09-0047. Epub 2013 Nov 29. Review.

PMID:
24287886

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