Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Nathalie Lepage"'
Autor:
Nathalie Lepage, Glenn E. Palomaki, Rhona J. Souers, Edward R. Ashwood, Philip Wyatt, Robert G. Best, John A. Thorson
Publikováno v:
Genetics in Medicine. 22:777-784
Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome. The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing plat
Autor:
Philip Wyatt, Nathalie Lepage, Thomas A. Long, Robert G. Best, Edward R Ashwood, Glenn E. Palomaki
Publikováno v:
Journal of medical screening. 28(4)
Objective To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. Setting The College of American Pathologists maternal screening proficiency testi
Autor:
Lawrence Fisher, Nathalie Lepage, Herman J. ten Brink, Christine Davies, Osama Y. Al-Dirbashi, Pranesh Chakraborty
Publikováno v:
Clinical Biochemistry, 54, 131-138. Elsevier Inc.
Fisher, L, Davies, C, Al-Dirbashi, O Y, ten Brink, H J, Chakraborty, P & Lepage, N 2018, ' A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry ', Clinical Biochemistry, vol. 54, pp. 131-138 . https://doi.org/10.1016/j.clinbiochem.2018.01.020
Fisher, L, Davies, C, Al-Dirbashi, O Y, ten Brink, H J, Chakraborty, P & Lepage, N 2018, ' A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry ', Clinical Biochemistry, vol. 54, pp. 131-138 . https://doi.org/10.1016/j.clinbiochem.2018.01.020
Background Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inbor
Autor:
Vishal Saxena, Nathalie Lepage, Marc Ekker, Kate Daniel, Alex MacKenzie, Izabella A. Pena, Pranesh Chakraborty, David A. Dyment, Kym M. Boycott, Devon L. Johnstone, Hellen Weinschutz Mendes, Yann Roussel, Marjolein Bosma, Tuan V. Bui, Clara D.M. van Karnebeek, Kevin Mongeon, Nanda M. Verhoeven-Duif
Publikováno v:
Genetics, 207(4), 1501. Genetics Society of America
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics
Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the l
Autor:
Nathalie Lepage, Michael Kadour, Vipin Bhayana, Manjula Gowrishankar, Ola Z. Ismail, Guido Filler
Publikováno v:
Clinical Biochemistry. 50:380-384
Autor:
Glenn E, Palomaki, Philip, Wyatt, Robert Glen, Best, Nathalie, Lepage, Edward R, Ashwood, Rhona J, Souers, John A, Thorson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(4)
Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome.The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing platf
Autor:
Nathalie Lepage, Izabella A. Pena, Eric Samarut, Kit-Yi Leung, Pierre Drapeau, Kyriakie Sarafoglou, Nicolas D.E. Greene, Raphaëlle Riché, Meijiang Liao, Lisa A. Schimmenti
Publikováno v:
JCI Insight. 3
Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based on new case reports of GLDC
Autor:
Ola Z, Ismail, Vipin, Bhayana, Michael, Kadour, Nathalie, Lepage, Manjula, Gowrishankar, Guido, Filler
Publikováno v:
Clinical biochemistry. 50(7-8)
Autor:
Jacek Majewski, Nanda M. Verhoeven-Duif, Wyeth W. Wasserman, Ido P. Kema, Yoko Ito, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, Megan T. Cho, Izabella A. Pena, Tuan Bui, Clara D.M. van Karnebeek, Scott Demarest, Ron A. Wevers, Amna Al Futaisi, Matthew A. Lines, Colin J. D. Ross, Ronald J.A. Wanders, Sander M. Houten, M. Rebecca Heiner-Fokkema, Sara Violante, Nicole I. Wolf, Jan M. Friedman, Heather E. Olson, Kevin Ban, Hilal H. Al-Shekaili, Autumn S Ivy, David A. Koolen, Judith J.M. Jans, Elise Brimble, Kristin D. Kernohan, Erik-Jan Kamsteeg, Carlo W.T. van Roermund, Skye McBride, Kym M. Boycott, Devon L. Johnstone, Sandra Noble, Rana Abdelrahim, Yann Roussel, Roshan Koul, Britt I. Drögemöller, Nathalie Lepage, Maartje Boon, Marjolein Bosma, Amber Begtrup, Khalid Al-Thihli, Jolita Ciapaite, Ceres Kosuta, Maja Tarailo-Graovac, Martijn van Faassen, Charlotte A. Haaxma, Marc Ekker, David A. Dyment
Publikováno v:
Brain, 142, 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Contains fulltext : 202680.pdf (Publisher’s version ) (Closed access) Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of wh
Autor:
Ritu Aul, Alan Dennis, Barry Hoffman, Sandra A. Farrell, Shamim Rashid, Tianhua Huang, Wendy S. Meschino, Nan Okun, Nathalie Lepage
Publikováno v:
Prenatal Diagnosis. 33:471-476
SUMMARY Objective This study aimed to assess the quantitative impact of maternal weight discrepancy on the screen result for Down syndrome when using Integrated Prenatal Screening and First Trimester Combined Screening. Methods The study population c