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Items: 1 to 50 of 152

1.

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Endres D, Maier SJ, Ziegler C, Nickel K, Riering AN, Berger B, Lambeck J, Fritz M, Gläser B, Stock F, Dacko M, Lange T, Mader I, Domschke K, Tebartz van Elst L.

Front Psychiatry. 2019 May 2;10:270. doi: 10.3389/fpsyt.2019.00270. eCollection 2019.

2.

Left atrial appendage occlusion for stroke despite oral anticoagulation (resistant stroke). Results from the Amplatzer Cardiac Plug registry.

Cruz-González I, González-Ferreiro R, Freixa X, Gafoor S, Shakir S, Omran H, Berti S, Santoro G, Kefer J, Landmesser U, Nielsen-Kudsk JE, Kanagaratnam P, Nietlispach F, Gloekler S, Aminian A, Danna P, Rezzaghi M, Stock F, Stolcova M, Paiva L, Costa M, Millán X, Ibrahim R, Tichelbäcker T, Schillinger W, Park JW, Sievert H, Meier B, Tzikas A.

Rev Esp Cardiol (Engl Ed). 2019 Apr 27. pii: S1885-5857(19)30055-6. doi: 10.1016/j.rec.2019.02.013. [Epub ahead of print] English, Spanish.

PMID:
31036510
3.

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Endres D, Süß P, Maier SJ, Friedel E, Nickel K, Ziegler C, Fiebich BL, Glocker FX, Stock F, Egger K, Lange T, Dacko M, Venhoff N, Erny D, Doostkam S, Komlosi K, Domschke K, Tebartz van Elst L.

Front Immunol. 2019 Mar 21;10:412. doi: 10.3389/fimmu.2019.00412. eCollection 2019.

4.

N-Acyl Homoserine Lactone Derived Tetramic Acids Impair Photosynthesis in Phaeodactylum tricornutum.

Stock F, Syrpas M, Graff van Creveld S, Backx S, Blommaert L, Dow L, Stock W, Ruysbergh E, Lepetit B, Bailleul B, Sabbe K, De Kimpe N, Willems A, Kroth PG, Vardi A, Vyverman W, Mangelinckx S.

ACS Chem Biol. 2019 Feb 15;14(2):198-203. doi: 10.1021/acschembio.8b01101. Epub 2019 Feb 6.

PMID:
30694649
5.

Comprehensive Evaluation of Compendial USP<71>, BacT/Alert Dual-T, and Bactec FX for Detection of Product Sterility Testing Contaminants.

England MR, Stock F, Gebo JET, Frank KM, Lau AF.

J Clin Microbiol. 2019 Jan 30;57(2). pii: e01548-18. doi: 10.1128/JCM.01548-18. Print 2019 Feb.

6.

[Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos].

Cammarata-Scalisi F, Stock F, Velazco N, Silva GD, Lacruz-Rengel MA, Avendaño A.

Bol Med Hosp Infant Mex. 2018;75(5):287-294. doi: 10.24875/BMHIM.M18000035. Spanish.

PMID:
30250319
7.

Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.

Cammarata-Scalisi F, Avendaño A, Stock F, Callea M, Sparago A, Riccio A.

Arch Argent Pediatr. 2018 Oct 1;116(5):368-373. doi: 10.5546/aap.2018.eng.368. Review. English, Spanish.

8.

[Clinical and molecular study in a family with multiple osteochondromatosis].

Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S, Grinberg D.

Acta Ortop Mex. 2018 Mar-Apr;32(2):108-111. Spanish.

9.

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

Nickel K, Tebartz van Elst L, Domschke K, Gläser B, Stock F, Endres D, Maier S, Riedel A.

BMC Psychiatry. 2018 Aug 2;18(1):248. doi: 10.1186/s12888-018-1822-8.

10.

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.

Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A, Seufert J, Laubner K.

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3601-3610. doi: 10.1210/jc.2018-00955. Review.

PMID:
30032214
11.

Compatibility of Maximum-Containment Virus-Inactivation Protocols With Identification of Bacterial Coinfections by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.

Matson MJ, Stock F, Shupert WL, Bushmaker T, Feldmann F, Bishop WB, Frank KM, Dekker JP, Chertow DS, Munster VJ.

J Infect Dis. 2018 Nov 22;218(suppl_5):S297-S300. doi: 10.1093/infdis/jiy292.

PMID:
29982557
12.

A History of Percutaneous Left Atrial Appendage Occlusion with the PLAATO Device.

Omran H, Tzikas A, Sievert H, Stock F.

Interv Cardiol Clin. 2018 Apr;7(2):137-142. doi: 10.1016/j.iccl.2017.12.009. Review.

PMID:
29526282
13.

Safety and timing of resuming dabigatran after major gastrointestinal bleeding reversed by idarucizumab.

Riario Sforza GG, Gentile F, Stock F, Caggiano F, Chiocca E, Incorvaia C.

SAGE Open Med Case Rep. 2018 Jan 9;6:2050313X17753336. doi: 10.1177/2050313X17753336. eCollection 2018.

14.

Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex.

Cammarata-Scalisi F, Vidales Moreno C, Stock F, Avendaño A, Araque D, Lacruz-Rengel MA, Diociaiuti A, Bellacchio E, Callea M.

J Eur Acad Dermatol Venereol. 2018 Jun;32(6):e243-e245. doi: 10.1111/jdv.14765. Epub 2018 Feb 12. No abstract available.

PMID:
29265517
15.

A new approach in separating microplastics from environmental samples based on their electrostatic behavior.

Felsing S, Kochleus C, Buchinger S, Brennholt N, Stock F, Reifferscheid G.

Environ Pollut. 2018 Mar;234:20-28. doi: 10.1016/j.envpol.2017.11.013. Epub 2017 Dec 21.

PMID:
29154206
16.

[Mosaic trisomy 18. Series of cases].

Cammarata-Scalisi F, Lacruz-Rengel MA, Araque D, Da Silva G, Avendaño A, Callea M, Stock F, Guerrero Y, Aguilar E, Lacruz MJ, Sulbaran J.

Arch Argent Pediatr. 2017 Jun 1;115(3):e183-e186. doi: 10.5546/aap.2017.e183. Spanish.

17.
18.

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Rauschendorf MA, Jost M, Stock F, Zimmer A, Rösler B, Rijntjes M, Piroth T, Coenen VA, Reinacher PC, Meyer PT, Frings L, Weiller C, Fischer J, Klebe S.

Mov Disord. 2017 Mar;32(3):478-480. doi: 10.1002/mds.26876. Epub 2016 Nov 21. No abstract available.

PMID:
27869329
19.

Screening for potential endocrine disruptors in fish: evidence from structural alerts and in vitro and in vivo toxicological assays.

Nendza M, Wenzel A, Müller M, Lewin G, Simetska N, Stock F, Arning J.

Environ Sci Eur. 2016;28(1):26. Epub 2016 Nov 2.

20.

Characterization of Cerebrovascular Events After Left Atrial Appendage Occlusion.

Freixa X, Llull L, Gafoor S, Cruz-Gonzalez I, Shakir S, Omran H, Berti S, Santoro G, Kefer J, Landmesser U, Nielsen-Kudsk JE, Kanagaratnam P, Nietlispach F, Gloekler S, Aminian A, Danna P, Rezzaghi M, Stock F, Stolcova M, Paiva L, Costa M, Millán X, Ibrahim R, Tichelbäcker T, Schillinger W, Park JW, Sievert H, Meier B, Tzikas A.

Am J Cardiol. 2016 Dec 15;118(12):1836-1841. doi: 10.1016/j.amjcard.2016.08.075. Epub 2016 Sep 15.

PMID:
27745964
21.

Genetic diversity of Klebsiella pneumoniae isolates during an outbreak in a non-human primate research colony.

Gozalo AS, Elkins WR, Lambert LE, Stock F, Thomas ML 3rd, Woodward RA.

J Med Primatol. 2016 Dec;45(6):312-317. doi: 10.1111/jmp.12229. Epub 2016 Aug 1.

22.

Incremental value of cardiac deformation analysis in acute myocarditis: a cardiovascular magnetic resonance imaging study.

André F, Stock FT, Riffel J, Giannitsis E, Steen H, Scharhag J, Katus HA, Buss SJ.

Int J Cardiovasc Imaging. 2016 Jul;32(7):1093-101. doi: 10.1007/s10554-016-0878-0. Epub 2016 Apr 21.

PMID:
27100527
23.

Comparison of Efficacy and Safety of Left Atrial Appendage Occlusion in Patients Aged <75 to ≥ 75 Years.

Freixa X, Gafoor S, Regueiro A, Cruz-Gonzalez I, Shakir S, Omran H, Berti S, Santoro G, Kefer J, Landmesser U, Nielsen-Kudsk JE, Sievert H, Kanagaratnam P, Nietlispach F, Gloekler S, Aminian A, Danna P, Rezzaghi M, Stock F, Stolcova M, Costa M, Ibrahim R, Schillinger W, Park JW, Meier B, Tzikas A.

Am J Cardiol. 2016 Jan 1;117(1):84-90. doi: 10.1016/j.amjcard.2015.10.024. Epub 2015 Oct 28.

PMID:
26552507
24.

[Gastrointestinal obstruction in the mosaic trisomy X].

Cammarata-Scalisi F, Araque D, Stock F, Molina M, Rodríguez R, Vázquez G, Cammarata-Scalisi G, Cammarata-Scalisi ME.

Acta Gastroenterol Latinoam. 2015 Jun;45(2):129-32. Spanish.

PMID:
26353463
25.

[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].

Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Stock F, Milano M, Petrosino P, Arenas de Sotolongo A, Medina Y.

Gac Med Mex. 2015 Mar-Apr;151(2):270-2. Spanish.

26.

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA.

Arch Argent Pediatr. 2015 Apr;113(2):e109-12. doi: 10.5546/aap.2015.e109. Spanish.

27.

Left atrial appendage occlusion for stroke prevention in atrial fibrillation: multicentre experience with the AMPLATZER Cardiac Plug.

Tzikas A, Shakir S, Gafoor S, Omran H, Berti S, Santoro G, Kefer J, Landmesser U, Nielsen-Kudsk JE, Cruz-Gonzalez I, Sievert H, Tichelbäcker T, Kanagaratnam P, Nietlispach F, Aminian A, Kasch F, Freixa X, Danna P, Rezzaghi M, Vermeersch P, Stock F, Stolcova M, Costa M, Ibrahim R, Schillinger W, Meier B, Park JW.

EuroIntervention. 2016 Feb;11(10):1170-9. doi: 10.4244/EIJY15M01_06.

28.

Reply to "Tn4401 carrying blaKPC is inserted within another insertion in pKpQIL and related plasmids".

Lau AF, Wang H, Weingarten RA, Drake SK, Suffredini AF, Chen Y, Gucek M, Youn JH, Stock F, Tso H, DeLeo J, Cimino JJ, Frank KM, Dekker JP.

J Clin Microbiol. 2014 Dec;52(12):4450. doi: 10.1128/JCM.02614-14. No abstract available.

29.

Persistence of Pseudomonas aeruginosa in a pulmonary nodule with late relapse.

Ronkainen S, Xie Y, Battiwalla M, Barrett AJ, Stock F, Dekker JP, Danner RL.

Transpl Infect Dis. 2014 Aug;16(4):666-71. doi: 10.1111/tid.12253. Epub 2014 Jun 26.

30.

A rapid matrix-assisted laser desorption ionization-time of flight mass spectrometry-based method for single-plasmid tracking in an outbreak of carbapenem-resistant Enterobacteriaceae.

Lau AF, Wang H, Weingarten RA, Drake SK, Suffredini AF, Garfield MK, Chen Y, Gucek M, Youn JH, Stock F, Tso H, DeLeo J, Cimino JJ, Frank KM, Dekker JP.

J Clin Microbiol. 2014 Aug;52(8):2804-12. doi: 10.1128/JCM.00694-14. Epub 2014 May 21.

31.

Case report of cutaneous histiocytic sarcoma: diagnostic and therapeutic dilemmas.

Trevisan F, Xavier CA, Pinto CA, Cattete FG, Stock FS, Martins ML.

An Bras Dermatol. 2013 Sep-Oct;88(5):807-10. doi: 10.1590/abd1806-4841.20132070.

32.

Adaptability and persistence of the emerging pathogen Bordetella petrii.

Zelazny AM, Ding L, Goldberg JB, Mijares LA, Conlan S, Conville PS, Stock F, Ballentine SJ, Olivier KN, Sampaio EP, Murray PR, Holland SM.

PLoS One. 2013 Jun 4;8(6):e65102. doi: 10.1371/journal.pone.0065102. Print 2013.

33.

Inhibition of Sox2 Expression in the Adult Neural Stem Cell Niche In Vivo by Monocationic-based siRNA Delivery.

Remaud S, López-Juárez SA, Bolcato-Bellemin AL, Neuberg P, Stock F, Bonnet ME, Ghaddab R, Clerget-Froidevaux MS, Pierre-Simons J, Erbacher P, Demeneix BA, Morvan-Dubois G.

Mol Ther Nucleic Acids. 2013 Apr 23;2:e89. doi: 10.1038/mtna.2013.8.

34.

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.

Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R; German Consortium for Hereditary Breast and Ovarian Cancer.

J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6.

PMID:
23564750
35.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC.

J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2.

36.

[Clinical and molecular study of the Noonan syndrome].

Cammarata-Scalisi F, Neri G, Pomponi MG, Mancano G, Da Silva G, Avendaño A, Lacruz-Rengel MA, Stock F, Sosa A.

Invest Clin. 2012 Dec;53(4):395-401. Spanish.

PMID:
23513489
37.

Identification, assessment and management of "endocrine disruptors" in wildlife in the EU substance legislation--discussion paper from the German Federal Environment Agency (UBA).

Frische T, Bachmann J, Frein D, Juffernholz T, Kehrer A, Klein A, Maack G, Stock F, Stolzenberg HC, Thierbach C, Walter-Rohde S.

Toxicol Lett. 2013 Dec 16;223(3):306-9. doi: 10.1016/j.toxlet.2013.03.004. Epub 2013 Mar 15.

PMID:
23500481
38.

Tracking a hospital outbreak of carbapenem-resistant Klebsiella pneumoniae with whole-genome sequencing.

Snitkin ES, Zelazny AM, Thomas PJ, Stock F; NISC Comparative Sequencing Program Group, Henderson DK, Palmore TN, Segre JA.

Sci Transl Med. 2012 Aug 22;4(148):148ra116. doi: 10.1126/scitranslmed.3004129.

39.

Genetic stability in the Icelandic horse breed.

Campana MG, Stock F, Barrett E, Benecke N, Barker GW, Seetah K, Bower MA.

Anim Genet. 2012 Aug;43(4):447-9. doi: 10.1111/j.1365-2052.2011.02266.x. Epub 2011 Oct 18.

PMID:
22497715
40.

Identification of clinical isolates of anaerobic bacteria using matrix-assisted laser desorption ionization-time of flight mass spectrometry.

Fedorko DP, Drake SK, Stock F, Murray PR.

Eur J Clin Microbiol Infect Dis. 2012 Sep;31(9):2257-62. doi: 10.1007/s10096-012-1563-4. Epub 2012 Feb 28.

PMID:
22371295
41.

Streptococcal infections in patients with chronic granulomatous disease: case report and review of the literature.

Falcone EL, Hanses S, Stock F, Holland SM, Zelazny AM, Uzel G.

J Clin Immunol. 2012 Aug;32(4):649-52. doi: 10.1007/s10875-012-9661-8. Epub 2012 Feb 29. Review.

42.

The genetic origin and history of speed in the Thoroughbred racehorse.

Bower MA, McGivney BA, Campana MG, Gu J, Andersson LS, Barrett E, Davis CR, Mikko S, Stock F, Voronkova V, Bradley DG, Fahey AG, Lindgren G, MacHugh DE, Sulimova G, Hill EW.

Nat Commun. 2012 Jan 24;3:643. doi: 10.1038/ncomms1644.

PMID:
22273681
43.

Use of adherence monitors as part of a team approach to control clonal spread of multidrug-resistant Acinetobacter baumannii in a research hospital.

Palmore TN, Michelin AV, Bordner M, Odom RT, Stock F, Sinaii N, Fedorko DP, Murray PR, Henderson DK.

Infect Control Hosp Epidemiol. 2011 Dec;32(12):1166-72. doi: 10.1086/662710. Epub 2011 Oct 26.

44.

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer.

Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.

PMID:
21919902
45.

Genome-wide recombination drives diversification of epidemic strains of Acinetobacter baumannii.

Snitkin ES, Zelazny AM, Montero CI, Stock F, Mijares L; NISC Comparative Sequence Program, Murray PR, Segre JA.

Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13758-63. doi: 10.1073/pnas.1104404108. Epub 2011 Aug 8.

46.

Dual origins of dairy cattle farming--evidence from a comprehensive survey of European Y-chromosomal variation.

Edwards CJ, Ginja C, Kantanen J, Pérez-Pardal L, Tresset A, Stock F; European Cattle Genetic Diversity Consortium, Gama LT, Penedo MC, Bradley DG, Lenstra JA, Nijman IJ.

PLoS One. 2011 Jan 6;6(1):e15922. doi: 10.1371/journal.pone.0015922.

47.

Accurate determination of phenotypic information from historic thoroughbred horses by single base extension.

Campana MG, Whitten CM, Edwards CJ, Stock F, Murphy AM, Binns MM, Barker GW, Bower MA.

PLoS One. 2010 Dec 2;5(12):e15172. doi: 10.1371/journal.pone.0015172.

48.

[Gastric duplication. A case report and review of the literature].

Stock F, Cammarata-Scalisi F, Petrosino P, Arenas de Sotolongo A, Milano M, Farias M.

Acta Gastroenterol Latinoam. 2010 Sep;40(3):258-63. Review. Spanish.

PMID:
21053485
49.

Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease.

Greenberg DE, Shoffner AR, Zelazny AM, Fenster ME, Zarember KA, Stock F, Ding L, Marshall-Batty KR, Wasserman RL, Welch DF, Kanakabandi K, Sturdevant DE, Virtaneva K, Porcella SF, Murray PR, Malech HL, Holland SM.

Emerg Infect Dis. 2010 Sep;16(9):1341-8. doi: 10.3201/eid1609.091800.

50.

Mesomorphic imidazolium salts: new vectors for efficient siRNA transfection.

Dobbs W, Heinrich B, Bourgogne C, Donnio B, Terazzi E, Bonnet ME, Stock F, Erbacher P, Bolcato-Bellemin AL, Douce L.

J Am Chem Soc. 2009 Sep 23;131(37):13338-46. doi: 10.1021/ja903028f.

PMID:
19715309

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