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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Molecular syndromology

Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS.
PMID: 28878606
Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14.

Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart...

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Monteiro RAC, de Freitas ML, Vianna GS, et al. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017;8(5):227-235doi: 10.1159/000477226.
Monteiro, R. A. C., de Freitas, M. L., Vianna, G. S., de Oliveira, V. T., Pietra, R. X., Ferreira, L. C. A., Rocha, P. P. O., da S Gonçalves, M., da C César, G., de S Lima, J., Medeiros, P. F. V., Mazzeu, J. F., & Jehee, F. S. (2017). Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Molecular syndromology, 8(5), 227-235. https://doi.org/10.1159/000477226
Monteiro, Rejane A C, et al. "Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test." Molecular syndromology vol. 8,5 (2017): 227-235. doi: https://doi.org/10.1159/000477226
Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. PMID: 28878606; PMCID: PMC5582521.
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Tuning the Lattice Parameter of InxZnyP for Highly Luminescent Lattice-Matched Core/Shell Quantum Dots.

ACS nano

Pietra F, De Trizio L, Hoekstra AW, Renaud N, Prato M, Grozema FC, Baesjou PJ, Koole R, Manna L, Houtepen AJ.
PMID: 27065247
ACS Nano. 2016 Apr 26;10(4):4754-62. doi: 10.1021/acsnano.6b01266. Epub 2016 Apr 14.

Colloidal quantum dots (QDs) show great promise as LED phosphors due to their tunable narrow-band emission and ability to produce high-quality white light. Currently, the most suitable QDs for lighting applications are based on cadmium, which presents a toxicity...

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Pietra F, De Trizio L, Hoekstra AW, et al. Tuning the Lattice Parameter of InxZnyP for Highly Luminescent Lattice-Matched Core/Shell Quantum Dots. ACS Nano. 2016;10(4):4754-62doi: 10.1021/acsnano.6b01266.
Pietra, F., De Trizio, L., Hoekstra, A. W., Renaud, N., Prato, M., Grozema, F. C., Baesjou, P. J., Koole, R., Manna, L., & Houtepen, A. J. (2016). Tuning the Lattice Parameter of InxZnyP for Highly Luminescent Lattice-Matched Core/Shell Quantum Dots. ACS nano, 10(4), 4754-62. https://doi.org/10.1021/acsnano.6b01266
Pietra, Francesca, et al. "Tuning the Lattice Parameter of InxZnyP for Highly Luminescent Lattice-Matched Core/Shell Quantum Dots." ACS nano vol. 10,4 (2016): 4754-62. doi: https://doi.org/10.1021/acsnano.6b01266
Pietra F, De Trizio L, Hoekstra AW, Renaud N, Prato M, Grozema FC, Baesjou PJ, Koole R, Manna L, Houtepen AJ. Tuning the Lattice Parameter of InxZnyP for Highly Luminescent Lattice-Matched Core/Shell Quantum Dots. ACS Nano. 2016 Apr 26;10(4):4754-62. doi: 10.1021/acsnano.6b01266. Epub 2016 Apr 14. PMID: 27065247.
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Observation of the competitive double-gamma nuclear decay.

Nature

Walz C, Scheit H, Pietralla N, Aumann T, Lefol R, Ponomarev VY.
PMID: 26469051
Nature. 2015 Oct 15;526(7573):406-9. doi: 10.1038/nature15543.

The double-gamma (γγ)-decay of a quantum system in an excited state is a fundamental second-order process of quantum electrodynamics. In contrast to the well-known single-gamma (γ)-decay, the γγ-decay is characterized by the simultaneous emission of two γ quanta, each...

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Walz C, Scheit H, Pietralla N, et al. Observation of the competitive double-gamma nuclear decay. Nature. 2015;526(7573):406-9doi: 10.1038/nature15543.
Walz, C., Scheit, H., Pietralla, N., Aumann, T., Lefol, R., & Ponomarev, V. Y. (2015). Observation of the competitive double-gamma nuclear decay. Nature, 526(7573), 406-9. https://doi.org/10.1038/nature15543
Walz, C, et al. "Observation of the competitive double-gamma nuclear decay." Nature vol. 526,7573 (2015): 406-9. doi: https://doi.org/10.1038/nature15543
Walz C, Scheit H, Pietralla N, Aumann T, Lefol R, Ponomarev VY. Observation of the competitive double-gamma nuclear decay. Nature. 2015 Oct 15;526(7573):406-9. doi: 10.1038/nature15543. PMID: 26469051.
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Natural Killer (NK)/melanoma cell interaction induces NK-mediated release of chemotactic High Mobility Group Box-1 (HMGB1) capable of amplifying NK cell recruitment.

Oncoimmunology

Parodi M, Pedrazzi M, Cantoni C, Averna M, Patrone M, Cavaletto M, Spertino S, Pende D, Balsamo M, Pietra G, Sivori S, Carlomagno S, Mingari MC, Moretta L, Sparatore B, Vitale M.
PMID: 26587323
Oncoimmunology. 2015 May 29;4(12):e1052353. doi: 10.1080/2162402X.2015.1052353. eCollection 2015 Dec.

In this study we characterize a new mechanism by which Natural Killer (NK) cells may amplify their recruitment to tumors. We show that NK cells, upon interaction with melanoma cells, can release a chemotactic form of High Mobility Group...

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Parodi M, Pedrazzi M, Cantoni C, et al. Natural Killer (NK)/melanoma cell interaction induces NK-mediated release of chemotactic High Mobility Group Box-1 (HMGB1) capable of amplifying NK cell recruitment. Oncoimmunology. 2015;4(12):e1052353doi: 10.1080/2162402X.2015.1052353.
Parodi, M., Pedrazzi, M., Cantoni, C., Averna, M., Patrone, M., Cavaletto, M., Spertino, S., Pende, D., Balsamo, M., Pietra, G., Sivori, S., Carlomagno, S., Mingari, M. C., Moretta, L., Sparatore, B., & Vitale, M. (2015). Natural Killer (NK)/melanoma cell interaction induces NK-mediated release of chemotactic High Mobility Group Box-1 (HMGB1) capable of amplifying NK cell recruitment. Oncoimmunology, 4(12), e1052353. https://doi.org/10.1080/2162402X.2015.1052353
Parodi, Monica, et al. "Natural Killer (NK)/melanoma cell interaction induces NK-mediated release of chemotactic High Mobility Group Box-1 (HMGB1) capable of amplifying NK cell recruitment." Oncoimmunology vol. 4,12 (2015): e1052353. doi: https://doi.org/10.1080/2162402X.2015.1052353
Parodi M, Pedrazzi M, Cantoni C, Averna M, Patrone M, Cavaletto M, Spertino S, Pende D, Balsamo M, Pietra G, Sivori S, Carlomagno S, Mingari MC, Moretta L, Sparatore B, Vitale M. Natural Killer (NK)/melanoma cell interaction induces NK-mediated release of chemotactic High Mobility Group Box-1 (HMGB1) capable of amplifying NK cell recruitment. Oncoimmunology. 2015 May 29;4(12):e1052353. doi: 10.1080/2162402X.2015.1052353. eCollection 2015 Dec. PMID: 26587323; PMCID: PMC4635845.
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Identification of mixed-symmetry states in an odd-mass nearly spherical nucleus.

Physical review letters

Orce JN, Holt JD, Linnemann A, McKay CJ, Lesher SR, Fransen C, Holt JW, Kumar A, Warr N, Werner V, Jolie J, Kuo TT, McEllistrem MT, Pietralla N, Yates SW.
PMID: 17026168
Phys Rev Lett. 2006 Aug 11;97(6):062504. doi: 10.1103/PhysRevLett.97.062504. Epub 2006 Aug 10.

The low-spin structure of 93Nb has been studied using the (n,n'gamma) reaction at neutron energies ranging from 1.5 to 3 MeV and the 94Zr(p,2ngamma)93Nb reaction at bombarding energies from 11.5 to 19 MeV. States at 1779.7 and 1840.6 keV,...

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Orce JN, Holt JD, Linnemann A, et al. Identification of mixed-symmetry states in an odd-mass nearly spherical nucleus. Phys Rev Lett. 2006;97(6):062504doi: 10.1103/PhysRevLett.97.062504.
Orce, J. N., Holt, J. D., Linnemann, A., McKay, C. J., Lesher, S. R., Fransen, C., Holt, J. W., Kumar, A., Warr, N., Werner, V., Jolie, J., Kuo, T. T., McEllistrem, M. T., Pietralla, N., & Yates, S. W. (2006). Identification of mixed-symmetry states in an odd-mass nearly spherical nucleus. Physical review letters, 97(6), 062504. https://doi.org/10.1103/PhysRevLett.97.062504
Orce, J N, et al. "Identification of mixed-symmetry states in an odd-mass nearly spherical nucleus." Physical review letters vol. 97,6 (2006): 062504. doi: https://doi.org/10.1103/PhysRevLett.97.062504
Orce JN, Holt JD, Linnemann A, McKay CJ, Lesher SR, Fransen C, Holt JW, Kumar A, Warr N, Werner V, Jolie J, Kuo TT, McEllistrem MT, Pietralla N, Yates SW. Identification of mixed-symmetry states in an odd-mass nearly spherical nucleus. Phys Rev Lett. 2006 Aug 11;97(6):062504. doi: 10.1103/PhysRevLett.97.062504. Epub 2006 Aug 10. PMID: 17026168.
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Stabilization of nuclear isovector valence-shell excitations.

Physical review letters

Rainovski G, Pietralla N, Ahn T, Lister CJ, Janssens RV, Carpenter MP, Zhu S, Barton CJ.
PMID: 16605899
Phys Rev Lett. 2006 Mar 31;96(12):122501. doi: 10.1103/PhysRevLett.96.122501. Epub 2006 Mar 30.

Excited states in 138Ce have been studied via the 12C(138Ce, 138Ce*) Coulomb excitation reaction at 480 MeV. Relative cross sections have been determined from the gamma-ray yields observed with Gammasphere. The E2 and M1 strength distributions between the lowest...

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Rainovski G, Pietralla N, Ahn T, et al. Stabilization of nuclear isovector valence-shell excitations. Phys Rev Lett. 2006;96(12):122501doi: 10.1103/PhysRevLett.96.122501.
Rainovski, G., Pietralla, N., Ahn, T., Lister, C. J., Janssens, R. V., Carpenter, M. P., Zhu, S., & Barton, C. J. (2006). Stabilization of nuclear isovector valence-shell excitations. Physical review letters, 96(12), 122501. https://doi.org/10.1103/PhysRevLett.96.122501
Rainovski, G, et al. "Stabilization of nuclear isovector valence-shell excitations." Physical review letters vol. 96,12 (2006): 122501. doi: https://doi.org/10.1103/PhysRevLett.96.122501
Rainovski G, Pietralla N, Ahn T, Lister CJ, Janssens RV, Carpenter MP, Zhu S, Barton CJ. Stabilization of nuclear isovector valence-shell excitations. Phys Rev Lett. 2006 Mar 31;96(12):122501. doi: 10.1103/PhysRevLett.96.122501. Epub 2006 Mar 30. PMID: 16605899.
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Demonstrating Fourier transform spectroscopy for students.

Applied optics

Frank W, Goerke K, Pietralla M.
PMID: 20197994
Appl Opt. 1978 May 01;17(9):1413-7. doi: 10.1364/AO.17.001413.

A Michelson interferometer with 230-mm mirror displacement is used to study coherence length and line shape of several light sources in the visible range. The instrument's construction is simple. Using quasimonochromatic symmetric spectral lines, a method is described for...

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Frank W, Goerke K, Pietralla M. Demonstrating Fourier transform spectroscopy for students. Appl Opt. 1978;17(9):1413-7doi: 10.1364/AO.17.001413.
Frank, W., Goerke, K., & Pietralla, M. (1978). Demonstrating Fourier transform spectroscopy for students. Applied optics, 17(9), 1413-7. https://doi.org/10.1364/AO.17.001413
Frank, W, et al. "Demonstrating Fourier transform spectroscopy for students." Applied optics vol. 17,9 (1978): 1413-7. doi: https://doi.org/10.1364/AO.17.001413
Frank W, Goerke K, Pietralla M. Demonstrating Fourier transform spectroscopy for students. Appl Opt. 1978 May 01;17(9):1413-7. doi: 10.1364/AO.17.001413. PMID: 20197994.
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Case of obscure-overt gastrointestinal bleeding after pediatric liver transplantation explained by endoscopic ultrasound.

World journal of gastrointestinal endoscopy

Curcio G, Pisa MD, Miraglia R, Catalano P, Barresi L, Tarantino I, Granata A, Spada M, Traina M.
PMID: 23293728
World J Gastrointest Endosc. 2012 Dec 16;4(12):571-4. doi: 10.4253/wjge.v4.i12.571.

Portal hypertension, which is a common finding in children awaiting liver transplantation, is also found after transplantation. It's reported the case of a 6-year-old girl, transplanted for biliary atresia, who had a severe obscure-overt bleeding presenting with melena. An...

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Curcio G, Pisa MD, Miraglia R, et al. Case of obscure-overt gastrointestinal bleeding after pediatric liver transplantation explained by endoscopic ultrasound. World J Gastrointest Endosc. 2012;4(12):571-4doi: 10.4253/wjge.v4.i12.571.
Curcio, G., Pisa, M. D., Miraglia, R., Catalano, P., Barresi, L., Tarantino, I., Granata, A., Spada, M., & Traina, M. (2012). Case of obscure-overt gastrointestinal bleeding after pediatric liver transplantation explained by endoscopic ultrasound. World journal of gastrointestinal endoscopy, 4(12), 571-4. https://doi.org/10.4253/wjge.v4.i12.571
Curcio, Gabriele, et al. "Case of obscure-overt gastrointestinal bleeding after pediatric liver transplantation explained by endoscopic ultrasound." World journal of gastrointestinal endoscopy vol. 4,12 (2012): 571-4. doi: https://doi.org/10.4253/wjge.v4.i12.571
Curcio G, Pisa MD, Miraglia R, Catalano P, Barresi L, Tarantino I, Granata A, Spada M, Traina M. Case of obscure-overt gastrointestinal bleeding after pediatric liver transplantation explained by endoscopic ultrasound. World J Gastrointest Endosc. 2012 Dec 16;4(12):571-4. doi: 10.4253/wjge.v4.i12.571. PMID: 23293728; PMCID: PMC3536855.
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Nitric oxide metabolites as biomarkers for influenza-like acute respiratory infections presenting to the emergency room.

The open respiratory medicine journal

Mian AI, Laham FR, Cruz AT, Garg H, Macias CG, Caviness AC, Piedra PA.
PMID: 23166571
Open Respir Med J. 2012;6:127-34. doi: 10.2174/1874306401206010127. Epub 2012 Nov 14.

AIMS: Nitric oxide (NO) is increased in the respiratory tract in pulmonary infections. The aim was to determine whether nasal wash NO metabolites could serve as biomarkers of viral pathogen and disease severity in children with influenza-like illness (ILI)...

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Mian AI, Laham FR, Cruz AT, et al. Nitric oxide metabolites as biomarkers for influenza-like acute respiratory infections presenting to the emergency room. Open Respir Med J. 2012;6:127-34doi: 10.2174/1874306401206010127.
Mian, A. I., Laham, F. R., Cruz, A. T., Garg, H., Macias, C. G., Caviness, A. C., & Piedra, P. A. (2012). Nitric oxide metabolites as biomarkers for influenza-like acute respiratory infections presenting to the emergency room. The open respiratory medicine journal, 6127-34. https://doi.org/10.2174/1874306401206010127
Mian, Asad I, et al. "Nitric oxide metabolites as biomarkers for influenza-like acute respiratory infections presenting to the emergency room." The open respiratory medicine journal vol. 6 (2012): 127-34. doi: https://doi.org/10.2174/1874306401206010127
Mian AI, Laham FR, Cruz AT, Garg H, Macias CG, Caviness AC, Piedra PA. Nitric oxide metabolites as biomarkers for influenza-like acute respiratory infections presenting to the emergency room. Open Respir Med J. 2012;6:127-34. doi: 10.2174/1874306401206010127. Epub 2012 Nov 14. PMID: 23166571; PMCID: PMC3499797.
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The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency.

Bioinformation

Sabaouni I, Moussa A, Vannier B, Semlali O, Pietka TA, Abumrad NA, Ibrahimi A.
PMID: 24250110
Bioinformation. 2013 Oct 16;9(17):849-52. doi: 10.6026/97320630009849. eCollection 2013.

We have previously shown that CD36 is a membrane protein that facilitates long chain fatty acid (FA) transport by muscle tissues. We also documented the significant impact of muscle CD36 expression on heart function, skeletal muscle insulin sensitivity as...

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Sabaouni I, Moussa A, Vannier B, et al. The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency. Bioinformation. 2013;9(17):849-52doi: 10.6026/97320630009849.
Sabaouni, I., Moussa, A., Vannier, B., Semlali, O., Pietka, T. A., Abumrad, N. A., & Ibrahimi, A. (2013). The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency. Bioinformation, 9(17), 849-52. https://doi.org/10.6026/97320630009849
Sabaouni, Imane, et al. "The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency." Bioinformation vol. 9,17 (2013): 849-52. doi: https://doi.org/10.6026/97320630009849
Sabaouni I, Moussa A, Vannier B, Semlali O, Pietka TA, Abumrad NA, Ibrahimi A. The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency. Bioinformation. 2013 Oct 16;9(17):849-52. doi: 10.6026/97320630009849. eCollection 2013. PMID: 24250110; PMCID: PMC3819569.
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Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy.

Amino acids

Pontoni G, Rotondo F, Vacchiano TM, Pinto L, Perrotta V, Pietra DD, Cartenì-Farina M, Zappia V.
PMID: 24178641
Amino Acids. 1996 Mar;11(1):91-7. doi: 10.1007/BF00805724.

A novel nuclear magnetic resonance method is proposed for the diagnosis and follow-up of patients affected by branched chain ketoaciduria. The method allows quantitation of the branched chain amino acids (BCAA's) such as leucine, isoleucine and valine and of...

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Pontoni G, Rotondo F, Vacchiano TM, et al. Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino Acids. 1996;11(1):91-7doi: 10.1007/BF00805724.
Pontoni, G., Rotondo, F., Vacchiano, T. M., Pinto, L., Perrotta, V., Pietra, D. D., Cartenì-Farina, M., & Zappia, V. (1996). Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino acids, 11(1), 91-7. https://doi.org/10.1007/BF00805724
Pontoni, G, et al. "Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy." Amino acids vol. 11,1 (1996): 91-7. doi: https://doi.org/10.1007/BF00805724
Pontoni G, Rotondo F, Vacchiano TM, Pinto L, Perrotta V, Pietra DD, Cartenì-Farina M, Zappia V. Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Amino Acids. 1996 Mar;11(1):91-7. doi: 10.1007/BF00805724. PMID: 24178641.
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First observation of the scissors mode in a gamma -soft nucleus: The case of 196Pt.

Physical review letters

Eberth J, Enders J, Esser L, Herzberg R, Huxel N, Meise H, Nicolay N, Pietralla N, Prade H, Reif J, Richter A, Schlegel C, Schwengner R, Skoda S, Thomas HG, von Brentano P, von Neumann-Cosel P, Wiedenhöver I, Winter G, Zilges A.
PMID: 10060588
Phys Rev Lett. 1996 Mar 18;76(12):2029-2032. doi: 10.1103/PhysRevLett.76.2029.

No abstract available.

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Eberth J, Enders J, Esser L, et al. First observation of the scissors mode in a gamma -soft nucleus: The case of 196Pt. Phys Rev Lett. 1996;76(12):2029-2032doi: 10.1103/PhysRevLett.76.2029.
Eberth, J., Enders, J., Esser, L., Herzberg, R., Huxel, N., Meise, H., Nicolay, N., Pietralla, N., Prade, H., Reif, J., Richter, A., Schlegel, C., Schwengner, R., Skoda, S., Thomas, H. G., von Brentano P, von Neumann-Cosel P, Wiedenhöver, I., Winter, G., & Zilges, A. (1996). First observation of the scissors mode in a gamma -soft nucleus: The case of 196Pt. Physical review letters, 76(12), 2029-2032. https://doi.org/10.1103/PhysRevLett.76.2029
Eberth, et al. "First observation of the scissors mode in a gamma -soft nucleus: The case of 196Pt." Physical review letters vol. 76,12 (1996): 2029-2032. doi: https://doi.org/10.1103/PhysRevLett.76.2029
Eberth J, Enders J, Esser L, Herzberg R, Huxel N, Meise H, Nicolay N, Pietralla N, Prade H, Reif J, Richter A, Schlegel C, Schwengner R, Skoda S, Thomas HG, von Brentano P, von Neumann-Cosel P, Wiedenhöver I, Winter G, Zilges A. First observation of the scissors mode in a gamma -soft nucleus: The case of 196Pt. Phys Rev Lett. 1996 Mar 18;76(12):2029-2032. doi: 10.1103/PhysRevLett.76.2029. PMID: 10060588.
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