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Items: 1 to 50 of 187

1.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

2.

Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.

Serrano NC, Guío E, Quintero-Lesmes DC, Becerra-Bayona S, Luna-Gonzalez ML, Herrera VM, Prada CE.

Pregnancy Hypertens. 2018 Mar 14. pii: S2210-7789(18)30019-9. doi: 10.1016/j.preghy.2018.03.006. [Epub ahead of print]

PMID:
29588145
3.

Towards real-time assessment of anisotropic plate properties using elastic guided waves.

Bochud N, Laurent J, Bruno F, Royer D, Prada C.

J Acoust Soc Am. 2018 Feb;143(2):1138. doi: 10.1121/1.5024353.

PMID:
29495739
4.

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

Serai SD, Naidu AP, Andrew Burrow T, Prada CE, Xanthakos S, Towbin AJ.

Mol Genet Metab. 2018 Mar;123(3):357-363. doi: 10.1016/j.ymgme.2017.10.013. Epub 2018 Jan 5.

PMID:
29361370
5.

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL.

Tex Heart Inst J. 2017 Dec 19;44(6):420-423. doi: 10.14503/THIJ-16-6121. eCollection 2017 Dec.

6.

Intraspecific and interspecific variation in thermotolerance and photoacclimation in Symbiodinium dinoflagellates.

Díaz-Almeyda EM, Prada C, Ohdera AH, Moran H, Civitello DJ, Iglesias-Prieto R, Carlo TA, LaJeunesse TC, Medina M.

Proc Biol Sci. 2017 Dec 6;284(1868). pii: 20171767. doi: 10.1098/rspb.2017.1767.

PMID:
29212723
7.

Immune response to vaccines is maintained in patients treated with dimethyl fumarate.

von Hehn C, Howard J, Liu S, Meka V, Pultz J, Mehta D, Prada C, Ray S, Edwards MR, Sheikh SI.

Neurol Neuroimmunol Neuroinflamm. 2017 Nov 15;5(1):e409. doi: 10.1212/NXI.0000000000000409. eCollection 2018 Jan.

8.

Universal target-enrichment baits for anthozoan (Cnidaria) phylogenomics: New approaches to long-standing problems.

Quattrini AM, Faircloth BC, Dueñas LF, Bridge TCL, Brugler MR, Calixto-Botía IF, DeLeo DM, Forêt S, Herrera S, Lee SMY, Miller DJ, Prada C, Rádis-Baptista G, Ramírez-Portilla C, Sánchez JA, Rodríguez E, McFadden CS.

Mol Ecol Resour. 2018 Mar;18(2):281-295. doi: 10.1111/1755-0998.12736. Epub 2017 Dec 6.

PMID:
29131534
9.

Cardiac Rhabdomyomas in Tuberous Sclerosis Complex.

Castro-Monsalve J, Alvarado-Socarras JL, Mantilla KA, Forero L, Moreno A, Prada CE.

J Pediatr. 2018 Jan;192:264-264.e1. doi: 10.1016/j.jpeds.2017.09.050. Epub 2017 Nov 8. No abstract available.

PMID:
29128117
10.

Effect of microstructural elongation on backscattered field: Intensity measurement and multiple scattering estimation with a linear transducer array.

Baelde A, Laurent J, Millien P, Coulette R, Khalifa WB, Jenson F, Sun F, Fink M, Prada C.

Ultrasonics. 2018 Jan;82:379-389. doi: 10.1016/j.ultras.2017.09.006. Epub 2017 Sep 20.

PMID:
29031168
11.

Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.

Sublett JA, Prada CE, Jefferies JL.

Eur J Med Genet. 2017 Dec;60(12):680-684. doi: 10.1016/j.ejmg.2017.09.002. Epub 2017 Sep 12.

PMID:
28911804
12.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.

Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.

PMID:
28815955
13.

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

Zhang W, Oehrle M, Prada CE, Schwartz IVD, Chutipongtanate S, Wattanasirichaigoon D, Inskeep V, Dai M, Pan D, Sun Y, Setchell KDR.

Analyst. 2017 Sep 8;142(18):3380-3387. doi: 10.1039/c7an00938k.

PMID:
28812093
14.

Effective Dispersal of Caribbean Reef Fish is Smaller than Current Spacing Among Marine Protected Areas.

Beltrán DM, Schizas NV, Appeldoorn RS, Prada C.

Sci Rep. 2017 Jul 5;7(1):4689. doi: 10.1038/s41598-017-04849-5.

15.

Causality, Nonlocality, and Negative Refraction.

Forcella D, Prada C, Carminati R.

Phys Rev Lett. 2017 Mar 31;118(13):134301. doi: 10.1103/PhysRevLett.118.134301. Epub 2017 Mar 31.

PMID:
28409972
16.

Ultrasonic Imaging in Highly Attenuating Materials With Hadamard Codes and the Decomposition of the Time Reversal Operator.

Lopez Villaverde E, Robert S, Prada C.

IEEE Trans Ultrason Ferroelectr Freq Control. 2017 Sep;64(9):1336-1344. doi: 10.1109/TUFFC.2017.2690499. Epub 2017 Apr 3.

PMID:
28391193
17.

Functional and Genomic Features of Human Genes Mutated in Neuropsychiatric Disorders.

Forero DA, Prada CF, Perry G.

Open Neurol J. 2016 Nov 11;10:143-148. eCollection 2016.

18.

Empty Niches after Extinctions Increase Population Sizes of Modern Corals.

Prada C, Hanna B, Budd AF, Woodley CM, Schmutz J, Grimwood J, Iglesias-Prieto R, Pandolfi JM, Levitan D, Johnson KG, Knowlton N, Kitano H, DeGiorgio M, Medina M.

Curr Biol. 2016 Dec 5;26(23):3190-3194. doi: 10.1016/j.cub.2016.09.039. Epub 2016 Nov 17.

19.

Laser beam shaping for enhanced Zero-Group Velocity Lamb modes generation.

Bruno F, Laurent J, Jehanno P, Royer D, Prada C.

J Acoust Soc Am. 2016 Oct;140(4):2829.

PMID:
27794304
20.

Prevalence of anti-Trypanosoma cruzi antibodies in women of childbearing age in Socotá, Boyacá, 2014.

Monroy ÁL, Pedraza AM, Prada CF.

Biomedica. 2016 Feb 23;36(0):90-6. doi: 10.7705/biomedica.v36i3.2923.

PMID:
27622629
21.

Comments regarding Marco et al., 2015, 'The two sides of border disease in Pyrenean chamois (Rupicapra pyrenaica): silent persistence and population collapse'.

Arnal MC, Herrero J, Fernández O, Martínez D, Prada C, García-Serrano A, de Luco DF.

Anim Health Res Rev. 2016 Dec;17(2):77-78. doi: 10.1017/S1466252316000086. Epub 2016 Aug 18. No abstract available.

PMID:
27534435
22.

Negative reflection of Lamb waves at a free edge: Tunable focusing and mimicking phase conjugation.

Gérardin B, Laurent J, Prada C, Aubry A.

J Acoust Soc Am. 2016 Jul;140(1):591. doi: 10.1121/1.4959024.

PMID:
27475181
23.

Ultrasonic imaging of defects in coarse-grained steels with the decomposition of the time reversal operator.

Lopez Villaverde E, Robert S, Prada C.

J Acoust Soc Am. 2016 Jul;140(1):541. doi: 10.1121/1.4958683.

PMID:
27475176
24.

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol.

Rincon MY, Prada CE, Lopez M, Castillo V, Echeverria LE, Serrano N.

JMIR Res Protoc. 2016 Jun 9;5(2):e102. doi: 10.2196/resprot.5535.

25.

A method for the measurement of dispersion curves of circumferential guided waves radiating from curved shells: experimental validation and application to a femoral neck mimicking phantom.

Nauleau P, Minonzio JG, Chekroun M, Cassereau D, Laugier P, Prada C, Grimal Q.

Phys Med Biol. 2016 Jul 7;61(13):4746-62. doi: 10.1088/0031-9155/61/13/4746. Epub 2016 Jun 8.

PMID:
27272197
26.

A comparative agreement evaluation of two subaxial cervical spine injury classification systems: the AOSpine and the Allen and Ferguson schemes.

Urrutia J, Zamora T, Campos M, Yurac R, Palma J, Mobarec S, Prada C.

Eur Spine J. 2016 Jul;25(7):2185-92. doi: 10.1007/s00586-016-4498-0. Epub 2016 Mar 5.

PMID:
26945747
27.

Measurement of dispersion curves of circumferential guided waves radiating from curved shells: Theory and numerical validation.

Chekroun M, Minonzio JG, Prada C, Laugier P, Grimal Q.

J Acoust Soc Am. 2016 Feb;139(2):790-9. doi: 10.1121/1.4941652.

PMID:
26936561
28.

Effect of refracted light distribution on the photoelastic generation of zero-group velocity Lamb modes in optically low-absorbing plates.

Raetz S, Laurent J, Dehoux T, Royer D, Audoin B, Prada C.

J Acoust Soc Am. 2015 Dec;138(6):3522-30. doi: 10.1121/1.4936903.

PMID:
26723309
29.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

30.

An Independent Inter- and Intraobserver Agreement Evaluation of the AOSpine Subaxial Cervical Spine Injury Classification System.

Urrutia J, Zamora T, Yurac R, Campos M, Palma J, Mobarec S, Prada C.

Spine (Phila Pa 1976). 2017 Mar;42(5):298-303. doi: 10.1097/BRS.0000000000001302.

PMID:
26630415
31.

Investigation of interfacial stiffnesses of a tri-layer using Zero-Group Velocity Lamb modes.

Mezil S, Bruno F, Raetz S, Laurent J, Royer D, Prada C.

J Acoust Soc Am. 2015 Nov;138(5):3202-9. doi: 10.1121/1.4934958.

PMID:
26627794
32.

Plane Wave Imaging for ultrasonic non-destructive testing: Generalization to multimodal imaging.

Le Jeune L, Robert S, Lopez Villaverde E, Prada C.

Ultrasonics. 2016 Jan;64:128-38. doi: 10.1016/j.ultras.2015.08.008. Epub 2015 Aug 28.

PMID:
26323547
33.

[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].

Alvarado Socarras JL, Laverde Amaya DC, Prada C, García Carrillo J.

Arch Argent Pediatr. 2015 Oct;113(5):e290-3. doi: 10.5546/aap.2015.e290. Spanish.

34.

Experimental study of passive defect localization in plates using ambient noise.

Chehami L, de Rosny J, Prada C, Moulin E, Assaad J.

IEEE Trans Ultrason Ferroelectr Freq Control. 2015 Aug;62(8):1544-53. doi: 10.1109/TUFFC.2014.006935.

PMID:
26276962
35.

Phage ΦPan70, a Putative Temperate Phage, Controls Pseudomonas aeruginosa in Planktonic, Biofilm and Burn Mouse Model Assays.

Holguín AV, Rangel G, Clavijo V, Prada C, Mantilla M, Gomez MC, Kutter E, Taylor C, Fineran PC, Barrios AF, Vives MJ.

Viruses. 2015 Aug 12;7(8):4602-23. doi: 10.3390/v7082835.

36.

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK.

J Pediatr. 2015 Oct;167(4):851-856.e1. doi: 10.1016/j.jpeds.2015.07.001. Epub 2015 Jul 29.

PMID:
26233602
37.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

38.

The prevalence of degenerative or incidental findings in the lumbar spine of pediatric patients: a study using magnetic resonance imaging as a screening tool.

Urrutia J, Zamora T, Prada C.

Eur Spine J. 2016 Feb;25(2):596-601. doi: 10.1007/s00586-015-4099-3. Epub 2015 Jul 8.

PMID:
26153679
39.

Laser induced zero-group velocity resonances in transversely isotropic cylinder.

Laurent J, Royer D, Hussain T, Ahmad F, Prada C.

J Acoust Soc Am. 2015 Jun;137(6):3325-34. doi: 10.1121/1.4921608.

PMID:
26093422
40.

Focusing on Plates: Controlling Guided Waves using Negative Refraction.

Philippe FD, Murray TW, Prada C.

Sci Rep. 2015 Jun 8;5:11112. doi: 10.1038/srep11112.

41.

Neonatal Treatment with a Pegylated Leptin Antagonist Induces Sexually Dimorphic Effects on Neurones and Glial Cells, and on Markers of Synaptic Plasticity in the Developing Rat Hippocampal Formation.

López-Gallardo M, Antón-Fernández A, Llorente R, Mela V, Llorente-Berzal A, Prada C, Viveros MP.

J Neuroendocrinol. 2015 Aug;27(8):658-69. doi: 10.1111/jne.12294.

PMID:
25981175
42.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
43.

Tomographic diffractive microscopy with agile illuminations for imaging targets in a noisy background.

Zhang T, Godavarthi C, Chaumet PC, Maire G, Giovannini H, Talneau A, Prada C, Sentenac A, Belkebir K.

Opt Lett. 2015 Feb 15;40(4):573-6. doi: 10.1364/OL.40.000573.

PMID:
25680153
44.

The maternal deprivation animal model revisited.

Marco EM, Llorente R, López-Gallardo M, Mela V, Llorente-Berzal Á, Prada C, Viveros MP.

Neurosci Biobehav Rev. 2015 Apr;51:151-63. doi: 10.1016/j.neubiorev.2015.01.015. Epub 2015 Jan 20. Review.

PMID:
25616179
45.

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

Villamizar-Schiller IT, Pabón LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE.

Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.

PMID:
25497207
46.

Strong natural selection on juveniles maintains a narrow adult hybrid zone in a broadcast spawner.

Prada C, Hellberg ME.

Am Nat. 2014 Dec;184(6):702-13. doi: 10.1086/678403. Epub 2014 Oct 17.

PMID:
25438171
47.

Full transmission and reflection of waves propagating through a maze of disorder.

Gérardin B, Laurent J, Derode A, Prada C, Aubry A.

Phys Rev Lett. 2014 Oct 24;113(17):173901. Epub 2014 Oct 21.

PMID:
25379917
48.

Endothelial dysfunction and preeclampsia: role of oxidative stress.

Sánchez-Aranguren LC, Prada CE, Riaño-Medina CE, Lopez M.

Front Physiol. 2014 Oct 10;5:372. doi: 10.3389/fphys.2014.00372. eCollection 2014. Review.

49.

An independent interobserver reliability and intraobserver reproducibility evaluation of the new AOSpine Thoracolumbar Spine Injury Classification System.

Urrutia J, Zamora T, Yurac R, Campos M, Palma J, Mobarec S, Prada C.

Spine (Phila Pa 1976). 2015 Jan 1;40(1):E54-8. doi: 10.1097/BRS.0000000000000656.

PMID:
25341990
50.

Circumferential guided wave measurements of a cylindrical fluid-filled bone-mimicking phantom.

Nauleau P, Grimal Q, Minonzio JG, Laugier P, Prada C.

J Acoust Soc Am. 2014 Feb;135(2):994-1001. doi: 10.1121/1.4861366.

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