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Items: 1 to 50 of 109

1.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
2.

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker.

López-Sainz Á, Climent V, Ripoll-Vera T, Espinosa MA, Barriales-Villa R, Navarro M, Limeres J, Domingo D, Kasper DC, Garcia-Pavia P.

Orphanet J Rare Dis. 2019 Jul 8;14(1):170. doi: 10.1186/s13023-019-1140-3.

3.

Staphylococcus aureus meningitis in adults: A comparative cohort study of infections caused by meticillin-resistant and meticillin-susceptible strains.

Pintado V, Pazos R, Jiménez-Mejías ME, Rodríguez-Guardado A, Díaz-Pollán B, Cabellos C, García-Lechuz JM, Lora-Tamayo J, Domingo P, Muñez E, Domingo D, González-Romo F, Lepe-Jiménez JA, Rodríguez-Lucas C, Gil A, Pelegrín I, Chaves F, Pomar V, Ramos A, Alarcón T, Pérez-Cecilia E.

J Hosp Infect. 2019 May;102(1):108-115. doi: 10.1016/j.jhin.2018.11.008. Epub 2018 Nov 16.

PMID:
30448277
4.

Left ventricular myocardial dysfunction in arrhythmogenic cardiomyopathy with left ventricular involvement: A door to improving diagnosis.

Vives-Gilabert Y, Sanz-Sánchez J, Molina P, Cebrián A, Igual B, Calvillo-Batllés P, Domingo D, Millet J, Martínez-Dolz L, Castells F, Zorio E.

Int J Cardiol. 2019 Jan 1;274:237-244. doi: 10.1016/j.ijcard.2018.09.024. Epub 2018 Sep 10.

5.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

6.

Peritonitis caused by Blastomonas natatoria in a patient submitted to peritoneal dyalisis.

Soler T, Santos B, Mayor L, Fernández A, Sánchez JA, Cardeñoso L, Domingo D.

Rev Esp Quimioter. 2018 Apr;31(2):175-177. Epub 2018 Apr 2. No abstract available.

7.

[Cerebrospinal fluid shunt-associated meningitis caused by Gordonia sputi: case report and review of the literature].

Martín D, Barrios A, Domingo D, Sánchez P, Sánchez M, Ruiz-Dassy A, Miqueleiz A, Sanz J.

Infez Med. 2017 Jun 1;25(2):174-178. Review.

8.

Pleural effusion after intravesical administration of bacillus Calmette-Guérin.

Roca Noval A, Cisneros C, García-Pérez FJ, Domingo D.

Arch Bronconeumol. 2017 Dec;53(12):694-695. doi: 10.1016/j.arbres.2017.03.020. Epub 2017 May 3. English, Spanish. No abstract available.

9.

RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism.

Wang YY, Mesirca P, Marqués-Sulé E, Zahradnikova A Jr, Villejoubert O, D'Ocon P, Ruiz C, Domingo D, Zorio E, Mangoni ME, Benitah JP, Gómez AM.

JCI Insight. 2017 Apr 20;2(8). pii: 91872. doi: 10.1172/jci.insight.91872. eCollection 2017 Apr 20.

10.

USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.

Bridges CR, Tan MC, Premarathne S, Nanayakkara D, Bellette B, Zencak D, Domingo D, Gecz J, Murtaza M, Jolly LA, Wood SA.

Sci Rep. 2017 Mar 24;7(1):391. doi: 10.1038/s41598-017-00149-0.

11.

Association of the hOCT1/ABCB1 genotype with efficacy and tolerability of imatinib in patients affected by chronic myeloid leukemia.

Galeotti L, Ceccherini F, Domingo D, Laurino M, Polillo M, Di Paolo A, Baratè C, Fava C, D'Avolio A, Cervetti G, Guerrini F, Fontanelli G, Ciabatti E, Grassi S, Arrigoni E, Danesi R, Petrini M, Cornolti F, Saglio G, Galimberti S.

Cancer Chemother Pharmacol. 2017 Apr;79(4):767-773. doi: 10.1007/s00280-017-3271-3. Epub 2017 Mar 13.

PMID:
28289867
12.

[Application of mass spectrometry in mycobacteria].

Alcaide F, Palop-Borrás B, Domingo D, Tudó G.

Enferm Infecc Microbiol Clin. 2016 Jun;34 Suppl 2:31-5. doi: 10.1016/S0213-005X(16)30188-4. Spanish.

PMID:
27389290
13.

Antimicrobial susceptibility of 6 antimicrobial agents in Helicobacter pylori clinical isolates by using EUCAST breakpoints compared with previously used breakpoints.

Alarcón T, Urruzuno P, Martínez MJ, Domingo D, Llorca L, Correa A, López-Brea M.

Enferm Infecc Microbiol Clin. 2017 May;35(5):278-282. doi: 10.1016/j.eimc.2016.02.010. Epub 2016 Mar 24. English, Spanish.

PMID:
27017059
14.

Deregulated hepatic microRNAs underlie the association between non-alcoholic fatty liver disease and coronary artery disease.

Braza-Boïls A, Marí-Alexandre J, Molina P, Arnau MA, Barceló-Molina M, Domingo D, Girbes J, Giner J, Martínez-Dolz L, Zorio E.

Liver Int. 2016 Aug;36(8):1221-9. doi: 10.1111/liv.13097. Epub 2016 Mar 23.

PMID:
26901384
15.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.

Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.

16.

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Nunn LM, Lopes LR, Syrris P, Murphy C, Plagnol V, Firman E, Dalageorgou C, Zorio E, Domingo D, Murday V, Findlay I, Duncan A, Carr-White G, Robert L, Bueser T, Langman C, Fynn SP, Goddard M, White A, Bundgaard H, Ferrero-Miliani L, Wheeldon N, Suvarna SK, O'Beirne A, Lowe MD, McKenna WJ, Elliott PM, Lambiase PD.

Europace. 2016 Jun;18(6):888-96. doi: 10.1093/europace/euv285. Epub 2015 Oct 25.

17.

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, Mazuelos F, Cózar R, Gimeno JR, Heras RP, Monserrat L, Domingo D, Ortiz-Genga M, Fernández Pastor J, Álvarez M, Tercedor L.

Am J Cardiol. 2015 Sep 15;116(6):894-9. doi: 10.1016/j.amjcard.2015.06.030. Epub 2015 Jun 27.

PMID:
26189708
18.

Sensitivity and negative predictive value of treadmill exercise stress testing for the diagnosis of catecholaminergic polymorphic ventricular tachycardia. Response.

Domingo D, López-Vilella R, Arnau MÁ, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Jun;68(6):546-7. doi: 10.1016/j.rec.2015.02.011. Epub 2015 May 1. No abstract available.

PMID:
25936659
19.

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J.

Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3.

PMID:
25740848
20.

The genetic background of left ventricular hypertrabeculation/noncompaction remains vague. Response.

Rodríguez-Serrano M, Domingo D, Igual B, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Feb;68(2):167-8. doi: 10.1016/j.rec.2014.10.001. Epub 2014 Dec 15. No abstract available.

PMID:
25522834
21.

Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.

Domingo D, Neco P, Fernández-Pons E, Zissimopoulos S, Molina P, Olagüe J, Suárez-Mier MP, Lai FA, Gómez AM, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 May;68(5):398-407. doi: 10.1016/j.rec.2014.04.023. Epub 2014 Nov 29.

PMID:
25440180
22.

A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia.

Domingo D, López-Vilella R, Arnau MÁ, Cano Ó, Fernández-Pons E, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Jan;68(1):71-3. doi: 10.1016/j.rec.2014.07.022. Epub 2014 Nov 27. No abstract available.

PMID:
25435091
23.

Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

Rodríguez-Serrano M, Domingo D, Igual B, Cano A, Medina P, Zorio E.

Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):857-9. doi: 10.1016/j.rec.2014.05.015. Epub 2014 Sep 5. No abstract available.

PMID:
25201647
24.

C-terminal β-strand swapping in a consensus-derived fibronectin Type III scaffold.

Teplyakov A, Obmolova G, Malia TJ, Luo J, Jacobs SA, Chan W, Domingo D, Baker A, O'Neil KT, Gilliland GL.

Proteins. 2014 Jul;82(7):1359-69. doi: 10.1002/prot.24502. Epub 2014 Feb 12.

PMID:
24375666
25.

Winter season, frequent hand washing, and irritant patch test reactions to detergents are associated with hand dermatitis in health care workers.

Callahan A, Baron E, Fekedulegn D, Kashon M, Yucesoy B, Johnson VJ, Domingo DS, Kirkland B, Luster MI, Nedorost S.

Dermatitis. 2013 Jul-Aug;24(4):170-5. doi: 10.1097/DER.0b013e318290c57f.

26.

The geographic diversity of nontuberculous mycobacteria isolated from pulmonary samples: an NTM-NET collaborative study.

Hoefsloot W, van Ingen J, Andrejak C, Angeby K, Bauriaud R, Bemer P, Beylis N, Boeree MJ, Cacho J, Chihota V, Chimara E, Churchyard G, Cias R, Daza R, Daley CL, Dekhuijzen PN, Domingo D, Drobniewski F, Esteban J, Fauville-Dufaux M, Folkvardsen DB, Gibbons N, Gómez-Mampaso E, Gonzalez R, Hoffmann H, Hsueh PR, Indra A, Jagielski T, Jamieson F, Jankovic M, Jong E, Keane J, Koh WJ, Lange B, Leao S, Macedo R, Mannsåker T, Marras TK, Maugein J, Milburn HJ, Mlinkó T, Morcillo N, Morimoto K, Papaventsis D, Palenque E, Paez-Peña M, Piersimoni C, Polanová M, Rastogi N, Richter E, Ruiz-Serrano MJ, Silva A, da Silva MP, Simsek H, van Soolingen D, Szabó N, Thomson R, Tórtola Fernandez T, Tortoli E, Totten SE, Tyrrell G, Vasankari T, Villar M, Walkiewicz R, Winthrop KL, Wagner D; Nontuberculous Mycobacteria Network European Trials Group.

Eur Respir J. 2013 Dec;42(6):1604-13. doi: 10.1183/09031936.00149212. Epub 2013 Apr 18.

27.

[Empyema by Actinomyces meyeri].

Palma R, Bielsa S, Domingo D, Porcel JM.

Med Clin (Barc). 2013 May 13;140(10):474-5. doi: 10.1016/j.medcli.2012.09.004. Epub 2012 Nov 8. Spanish. No abstract available.

PMID:
23141045
28.

[Leptotrichia goodfellowii wound infection after a dog bite].

Guiu A, Domingo D, Correa A, López-Brea M.

Rev Esp Quimioter. 2012 Sep;25(3):220-1. Spanish. No abstract available.

29.

[Pneumococcal bacteremia in adult patients at a hospital in Madrid: serotypes and susceptibility].

Correa AM, Sanz JC, de Las Cuevas C, Guiu A, Domingo D, Alarcón T, López-Brea M.

Rev Esp Quimioter. 2012 Jun;25(2):155-60. Spanish.

30.
31.

Methicillin-resistant Staphylococcus aureus meningitis in adults: a multicenter study of 86 cases.

Pintado V, Pazos R, Jiménez-Mejías ME, Rodríguez-Guardado A, Gil A, García-Lechuz JM, Cabellos C, Chaves F, Domingo P, Ramos A, Pérez-Cecilia E, Domingo D.

Medicine (Baltimore). 2012 Jan;91(1):10-7. doi: 10.1097/MD.0b013e318243442b.

32.

[Antibiotic susceptibility of Corynebacterium macginleyi strains causing conjunctivitis].

Espínola M, Somodevilla A, Domingo D, Alarcón T, López-Brea M.

Rev Esp Quimioter. 2010 Dec;23(4):196-200. Spanish.

33.

Effects of pimecrolimus versus triamcinolone on Langerhans cells after UV exposure.

Martires KJ, Domingo DS, Hsia A, Fu P, Cooper KD, Baron ED.

Exp Dermatol. 2011 Mar;20(3):280-2. doi: 10.1111/j.1600-0625.2010.01156.x. Epub 2010 Dec 17.

PMID:
21166722
34.

Anti-angiogenic effects of epigallocatechin-3-gallate in human skin.

Domingo DS, Camouse MM, Hsia AH, Matsui M, Maes D, Ward NL, Cooper KD, Baron ED.

Int J Clin Exp Pathol. 2010 Aug 5;3(7):705-9.

35.

Craniofacial and dental findings in cystinosis.

Bassim CW, Gautam P, Domingo DL, Balog JZ, Guadagnini JP, Gahl WA, Hart TC.

Oral Dis. 2010 Jul;16(5):488-95. doi: 10.1111/j.1601-0825.2010.01662.x. Epub 2010 Mar 9.

36.

A misleading wide complex tachycardia with unusual features after carotid sinus pressure: what is the diagnosis?

Cano O, Navarro J, Osca J, Domingo D, Sancho-Tello MJ, Salvador A, Olagüe J.

Europace. 2010 Jul;12(7):1019-21. doi: 10.1093/europace/euq072. Epub 2010 Mar 13. No abstract available.

PMID:
20228395
37.

Successful treatment of periodontal mucormycosis: report of a case and literature review.

McDermott NE, Barrett J, Hipp J, Merino MJ, Richard Lee CC, Waterman P, Domingo DL, Walsh TJ.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Mar;109(3):e64-9. doi: 10.1016/j.tripleo.2009.11.012. Review.

PMID:
20219588
38.

Short-term prophylactic treatment of hereditary angioedema with icatibant.

Marqués L, Domingo D, Maravall FJ, Clotet J.

Allergy. 2010 Jan;65(1):137-8. doi: 10.1111/j.1398-9995.2009.02160.x. No abstract available.

PMID:
20078507
39.

Topical application of green and white tea extracts provides protection from solar-simulated ultraviolet light in human skin.

Camouse MM, Domingo DS, Swain FR, Conrad EP, Matsui MS, Maes D, Declercq L, Cooper KD, Stevens SR, Baron ED.

Exp Dermatol. 2009 Jun;18(6):522-6. doi: 10.1111/j.1600-0625.2008.00818.x.

PMID:
19492999
40.

Transmission permeability of tuberculosis involving immigrants, revealed by a multicentre analysis of clusters.

Alonso Rodríguez N, Chaves F, Iñigo J, Bouza E, García de Viedma D; TB Molecular Epidemiology Study Group of Madrid, Andrés S, Cías R, Daza R, Domingo D, Esteban J, García J, Gómez Mampaso E, Herranz M, Palenque E, Ruiz Serrano MJ.

Clin Microbiol Infect. 2009 May;15(5):435-42. doi: 10.1111/j.1469-0691.2008.02670.x. Epub 2009 Mar 23.

41.

Dyskeratosis congenita: the first NIH clinical research workshop.

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP.

Pediatr Blood Cancer. 2009 Sep;53(3):520-3. doi: 10.1002/pbc.22061.

42.

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.

Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC.

Oral Dis. 2009 Apr;15(3):187-95. doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.

43.

Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC.

Oral Dis. 2009 Apr;15(3):196-205. doi: 10.1111/j.1601-0825.2008.01509.x. Epub 2009 Jan 9.

44.

Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations.

Freeman AF, Domingo DL, Holland SM.

Oral Dis. 2009 Jan;15(1):2-7. doi: 10.1111/j.1601-0825.2008.01463.x. Epub 2008 Nov 25. Review.

PMID:
19036057
45.

Oral and dental phenotype of dyskeratosis congenita.

Atkinson JC, Harvey KE, Domingo DL, Trujillo MI, Guadagnini JP, Gollins S, Giri N, Hart TC, Alter BP.

Oral Dis. 2008 Jul;14(5):419-27.

46.

Advances in photoprotection.

Baron ED, Kirkland EB, Domingo DS.

Dermatol Nurs. 2008 Aug;20(4):265-72; quiz 273. Review.

PMID:
18819220
47.

Melanoma and nonmelanoma skin cancers and the immune system.

Domingo DS, Baron ED.

Adv Exp Med Biol. 2008;624:187-202. doi: 10.1007/978-0-387-77574-6_15. Review. No abstract available.

PMID:
18348457
48.

Phenotype and course of Hutchinson-Gilford progeria syndrome.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ.

N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898.

49.

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

Domingo DL, Freeman AF, Davis J, Puck JM, Tianxia W, Holland SM, Hart TC.

Oral Dis. 2008 Jan;14(1):73-81. doi: 10.1111/j.1601-0825.2007.01363.x.

PMID:
18173452
50.

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.

Am J Med Genet A. 2007 Dec 15;143A(24):3204-15.

PMID:
18000976

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