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Items: 1 to 50 of 131

1.

Multiple reaction monitoring (MRM)-profiling with biomarker identification by LC-QTOF to characterize coronary artery disease.

Yannell KE, Ferreira CR, Tichy SE, Cooks RG.

Analyst. 2018 Sep 18. doi: 10.1039/c8an01017j. [Epub ahead of print]

PMID:
30226503
2.

Multiple Reaction Monitoring Profiling to Assess Compliance with an Almond Consumption Intervention.

Dhillon J, Ferreira CR, Sobreira TJP, Mattes RD.

Curr Dev Nutr. 2017 Sep 6;1(9):e001545. doi: 10.3945/cdn.117.001545. eCollection 2017 Sep.

3.

Water Absorption and Physicochemical Characterization of Novel Zeolite-PMAA-co-PAAm Nanocomposites.

Tanaka FN, Ferreira CR Jr, de Moura MR, Aouada FA.

J Nanosci Nanotechnol. 2018 Oct 1;18(10):7286-7295. doi: 10.1166/jnn.2018.15515.

PMID:
29954575
4.

FOXP3-positive T-cell lymphomas in non-HTLV1 carriers include ALK-negative anaplastic large cell lymphoma: expanding the Spectrum of T-cell lymphomas with regulatory phenotype.

Ferreira CR, Zhao S, Sahoo MK, Pinsky B, Weber J, Lage LAPC, Pereira J, Zerbini MCN, Natkunam Y.

Hum Pathol. 2018 Jun 10. pii: S0046-8177(18)30206-5. doi: 10.1016/j.humpath.2018.06.001. [Epub ahead of print]

PMID:
29898383
5.

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N.

Genet Med. 2018 Jun 8. doi: 10.1038/s41436-018-0022-8. [Epub ahead of print]

PMID:
29884839
6.

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ.

Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7.

PMID:
29789193
8.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

PMID:
29681090
9.

High throughput reaction screening using desorption electrospray ionization mass spectrometry.

Wleklinski M, Loren BP, Ferreira CR, Jaman Z, Avramova L, Sobreira TJP, Thompson DH, Cooks RG.

Chem Sci. 2018 Jan 4;9(6):1647-1653. doi: 10.1039/c7sc04606e. eCollection 2018 Feb 14.

10.

Lipid profile of bovine blastocysts exposed to insulin during in vitro oocyte maturation.

Laskowski D, Andersson G, Humblot P, Sirard MA, Sjunnesson Y, Ferreira CR, Pirro V, Båge R.

Reprod Fertil Dev. 2018 Apr 16. doi: 10.1071/RD17248. [Epub ahead of print]

PMID:
29655403
11.

Recognizable phenotypes in CDG.

Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E.

J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13.

PMID:
29654385
12.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
13.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

14.

Disorders of metal metabolism.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Review.

15.

Hypercementosis Associated with ENPP1 Mutations and GACI.

Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL.

J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.

PMID:
29244957
16.

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Regier DS, Ferreira CR, Hart S, Hadley DW, Muenke M.

Mol Genet Genomic Med. 2017 Nov;5(6):621-630. doi: 10.1002/mgg3.343.

17.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

18.

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548.

PMID:
29136352
19.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20.

PMID:
29052317
20.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.

Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.

PMID:
29044765
21.

Cover Image, Volume 173A, Number 9, September 2017.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):i. doi: 10.1002/ajmg.a.38408.

PMID:
28816424
22.

Noonan syndrome in diverse populations.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

23.

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR.

Mol Genet Metab Rep. 2017 Jul 15;13:9-12. doi: 10.1016/j.ymgmr.2017.07.004. eCollection 2017 Dec.

24.

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Ferreira CR, Regier DS, Hadley DW, Hart PS, Muenke M.

Mol Genet Genomic Med. 2017 Jul 16;5(4):307-316. doi: 10.1002/mgg3.318. eCollection 2017 Jul.

25.

Dataset on lipid profile of bovine oocytes exposed to Lα-phosphatidylcholine during in vitro maturation investigated by MALDI mass spectrometry and gas chromatography-flame ionization detection.

Vireque AA, Ferreira CR, Hatanaka RR, Tata A, Belaz KRA, Santos VG, Eberlin MN, Silva de Sá MF, Ferriani RA, Rosa E Silva ACJS.

Data Brief. 2017 Jun 17;13:480-486. doi: 10.1016/j.dib.2017.06.026. eCollection 2017 Aug.

26.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

27.

Multiple reaction monitoring (MRM)-profiling for biomarker discovery applied to human polycystic ovarian syndrome.

Cordeiro FB, Ferreira CR, Sobreira TJP, Yannell KE, Jarmusch AK, Cedenho AP, Lo Turco EG, Cooks RG.

Rapid Commun Mass Spectrom. 2017 Sep 15;31(17):1462-1470. doi: 10.1002/rcm.7927.

PMID:
28656689
28.

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC.

Sci Transl Med. 2017 Jun 7;9(393). pii: eaal1669. doi: 10.1126/scitranslmed.aal1669.

30.

Effect of soybean phosphatidylcholine on lipid profile of bovine oocytes matured in vitro.

Pitangui-Molina CP, Vireque AA, Tata A, Belaz KR, Santos VG, Ferreira CR, Eberlin MN, Silva-de-Sá MF, Ferriani RA, Rosa-E-Silva AC.

Chem Phys Lipids. 2017 Apr;204:76-84. doi: 10.1016/j.chemphyslip.2017.03.003. Epub 2017 Mar 21.

31.

22q11.2 deletion syndrome in diverse populations.

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199.

32.

Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.

Ferreira CR.

Mol Genet Metab Rep. 2017 Jan 16;10:81-82. doi: 10.1016/j.ymgmr.2016.12.009. eCollection 2017 Mar. No abstract available.

33.

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA.

Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.

34.

Matrix-assisted laser desorption/ionization imaging mass spectrometry for the spatial location of feline oviductal proteins.

Apparicio M, Santos VG, Rocha D, Ferreira CR, Macente BI, Magalhães GM, Alves AE, Motheo TF, Padilha-Nakaghi LC, Pires-Buttler EA, Luvoni GC, Eberlin MN, Vicente W.

Reprod Domest Anim. 2017 Apr;52 Suppl 2:88-92. doi: 10.1111/rda.12842. Epub 2016 Nov 3.

PMID:
27807892
35.

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K.

Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31. Review.

PMID:
27797444
36.

Functional abolition of carotid body activity restores insulin action and glucose homeostasis in rats: key roles for visceral adipose tissue and the liver.

Sacramento JF, Ribeiro MJ, Rodrigues T, Olea E, Melo BF, Guarino MP, Fonseca-Pinto R, Ferreira CR, Coelho J, Obeso A, Seiça R, Matafome P, Conde SV.

Diabetologia. 2017 Jan;60(1):158-168. Epub 2016 Oct 16.

PMID:
27744526
37.

Chemical profiling of cerebrospinal fluid by multiple reaction monitoring mass spectrometry.

Ferreira CR, Yannell KE, Mollenhauer B, Espy RD, Cordeiro FB, Ouyang Z, Cooks RG.

Analyst. 2016 Sep 21;141(18):5252-5. doi: 10.1039/c6an01618a. Epub 2016 Aug 12.

PMID:
27517482
38.

Membrane lipid profile of in vitro-produced embryos is affected by vitrification but not by long-term dietary supplementation of polyunsaturated fatty acids for oocyte donor beef heifers.

Leão BCS, Rocha-Frigoni NAS, Nogueira É, Cabral EC, Ferreira CR, Eberlin MN, Accorsi MF, Neves TV, Mingoti GZ.

Reprod Fertil Dev. 2017 Jun;29(6):1217-1230. doi: 10.1071/RD15414.

PMID:
27220988
39.

Lipid dynamics in zebrafish embryonic development observed by DESI-MS imaging and nanoelectrospray-MS.

Pirro V, Guffey SC, Sepúlveda MS, Mahapatra CT, Ferreira CR, Jarmusch AK, Cooks RG.

Mol Biosyst. 2016 Jun;12(7):2069-79. doi: 10.1039/c6mb00168h.

40.

Lipidome signatures in early bovine embryo development.

Sudano MJ, Rascado TD, Tata A, Belaz KR, Santos VG, Valente RS, Mesquita FS, Ferreira CR, Araújo JP, Eberlin MN, Landim-Alvarenga FD.

Theriogenology. 2016 Jul 15;86(2):472-484.e1. doi: 10.1016/j.theriogenology.2016.03.025. Epub 2016 Mar 22.

PMID:
27107972
41.

Effects of n-6 and n-3 polyunsaturated acid-rich soybean phosphatidylcholine on membrane lipid profile and cryotolerance of human sperm.

Vireque AA, Tata A, Silva OF, LoTurco EG, Azzolini A, Ferreira CR, Dantas MH, Ferriani RA, Reis RM.

Fertil Steril. 2016 Aug;106(2):273-283.e6. doi: 10.1016/j.fertnstert.2016.03.044. Epub 2016 Apr 19.

PMID:
27105718
42.

The effectiveness of a bundle in the prevention of ventilator-associated pneumonia.

Ferreira CR, de Souza DF, Cunha TM, Tavares M, Reis SS, Pedroso RS, Röder DV.

Braz J Infect Dis. 2016 May-Jun;20(3):267-71. doi: 10.1016/j.bjid.2016.03.004. Epub 2016 Apr 18.

43.

PBRM1 Regulates the Expression of Genes Involved in Metabolism and Cell Adhesion in Renal Clear Cell Carcinoma.

Chowdhury B, Porter EG, Stewart JC, Ferreira CR, Schipma MJ, Dykhuizen EC.

PLoS One. 2016 Apr 21;11(4):e0153718. doi: 10.1371/journal.pone.0153718. eCollection 2016.

44.

Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.

Ferreira CR, Cusmano-Ozog K.

JIMD Rep. 2017;31:45-49. doi: 10.1007/8904_2016_552. Epub 2016 Apr 12.

45.

Subserous lymphangioma of the sigmoid colon: an uncommon cause of acute abdomen in pediatric patients.

Fernandes BF, Moraes ÉN, de Oliveira FR, Benevides GN, Felipe-Silva A, Ferreira CR, de Alcântara PS, Tokeshi F, Martinês JA, Ferronato ÂE.

Autops Case Rep. 2015 Dec 30;5(4):65-70. doi: 10.4322/acr.2015.026. eCollection 2015 Oct-Dec.

46.

Streptococcus agalactiae septicemia in a patient with diabetes and hepatic cirrhosis.

Batista RP, Ferreira CR.

Autops Case Rep. 2015 Dec 30;5(4):35-43. doi: 10.4322/acr.2015.028. eCollection 2015 Oct-Dec.

47.

Congenital generalized lymphangiectasia: a rare developmental disorder for non-immune fetal hydrops.

Ferreira CR, Sibre V, Schultz R, de Melo AM, Ibidi SM, Torre JD.

Autops Case Rep. 2015 Dec 30;5(4):27-33. doi: 10.4322/acr.2015.027. eCollection 2015 Oct-Dec.

48.

Bacterial sinusitis and its frightening complications: subdural empyema and Lemierre syndrome.

Benevides GN, Salgado GA Jr, Ferreira CR, Felipe-Silva A, Gilio AE.

Autops Case Rep. 2015 Dec 30;5(4):19-26. doi: 10.4322/acr.2015.029. eCollection 2015 Oct-Dec.

49.

Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA.

Am J Med Genet A. 2016 May;170A(5):1308-11. doi: 10.1002/ajmg.a.37574. Epub 2016 Feb 9.

50.

Probabilistic Segmentation of Mass Spectrometry (MS) Images Helps Select Important Ions and Characterize Confidence in the Resulting Segments.

Bemis KD, Harry A, Eberlin LS, Ferreira CR, van de Ven SM, Mallick P, Stolowitz M, Vitek O.

Mol Cell Proteomics. 2016 May;15(5):1761-72. doi: 10.1074/mcp.O115.053918. Epub 2016 Jan 21.

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