Zobrazeno 1 - 10
of 10
pro vyhledávání: '"André Weinstock"'
Autor:
Judy Savige, B. André Weinstock
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease. Detection of a
Externí odkaz:
https://doaj.org/article/545f4d9ac3bc45219aef7a1c7e5bc43b
Autor:
Anna Köttgen, Emilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew J. Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Bockenhauer, Olivier Devuyst, Jose C. Florez, Kevin J. Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed A. Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Gross, Lisa M. Guay-Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V.A.M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska-Ziętkiewicz, Kathleen Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna-Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Susztak, Bamidele O. Tayo, Roser Torra, Albertien M. van Eerde, André Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer M. King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer, Ali G. Gharavi
Publikováno v:
Kidney International, Vol. 101, no.6, p. 1126-1141 (2022)
Kidney International, 101(6), 1126-1141. ELSEVIER SCIENCE INC
Kidney Int
Kidney International, 101(6), 1126-1141. ELSEVIER SCIENCE INC
Kidney Int
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f139b55aba03fd797e4e247965ca5929
https://hdl.handle.net/2078.1/263285
https://hdl.handle.net/2078.1/263285
Autor:
Rachel Lennon, Sharon Lagas, A Neil Turner, Judith Savige, Melissa Stepney, Oliver Gross, Jeffrey H. Miner, Michelle N. Rheault, Frances Flinter, André Weinstock, Susie Gear, Gina Parziale, Michael J. Randles
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Rheault, M N, Savige, J, Randles, M J, Weinstock, A, Stepney, M, Turner, N, Parziale, G & Gross, O 2019, ' The importance of clinician, patient & researcher collaborations in Alport Syndrome ', Pediatric Nephrology . https://doi.org/10.1007/s00467-019-04241-7
Rheault, M N, Savige, J, Randles, M J, Weinstock, A, Stepney, M, Turner, A N, Parziale, G, Gross, O, Flinter, F A, Miner, J H, Lagas, S, Gear, S & Lennon, R 2019, ' The importance of clinician, patient and researcher collaborations in Alport syndrome ', Pediatric Nephrology . https://doi.org/10.1007/s00467-019-04241-7
Rheault, M N, Savige, J, Randles, M J, Weinstock, A, Stepney, M, Turner, N, Parziale, G & Gross, O 2019, ' The importance of clinician, patient & researcher collaborations in Alport Syndrome ', Pediatric Nephrology . https://doi.org/10.1007/s00467-019-04241-7
Rheault, M N, Savige, J, Randles, M J, Weinstock, A, Stepney, M, Turner, A N, Parziale, G, Gross, O, Flinter, F A, Miner, J H, Lagas, S, Gear, S & Lennon, R 2019, ' The importance of clinician, patient and researcher collaborations in Alport syndrome ', Pediatric Nephrology . https://doi.org/10.1007/s00467-019-04241-7
Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, Alport syndrome is a rare genetic disor
Autor:
B. André Weinstock, David L. Feldman, Alessia Fornoni, Oliver Gross, Clifford E. Kashtan, Sharon Lagas, Rachel Lennon, Jeffrey H. Miner, Michelle N. Rheault, James F. Simon, Lisa Bonebrake, Marty Dunleavy, Phil Kumnick, Gina Parziale, Janine Reed, André Weinstock, Susie Gear, Kristen Binaso, Raymond Manuel, James Simon, Gerald Appel, Melanie Blank, Winson Tang, Aliza Thompson, Roser Torra, Kenneth Lieberman, Christoph Licht, Karin Dahan, Kandai Nozu, Hirofumi Kai, Sharon Ricardo, Anne Pariser, David Feldman, Heather Cook, Melanie Chin, Angela Goldsberry, Colin Meyer, Lisa Anne Melia, Radko Komers, Michael Markels, Alex Mercer, Marco Prunotto, Bruce Morgenstern, Ali Hariri, Vijay Modur, Neil Turner, Clifford Kashtan, Michelle Rheault, Colin Baigent, Stephano DeSacco, Laura Perin, Moumita Barua, Koichi Nakanishi, George Jarad, Jeffrey Miner
Publikováno v:
Weinstock, B A, Feldman, D L, Fornoni, A, Gross, O, Kashtan, C E, Lagas, S, Lennon, R, Miner, J H, Rheault, M N, Simon, J F, Bonebrake, L, Dunleavy, M, Kumnick, P, Lagas, S, Parziale, G, Reed, J, Weinstock, A, Gear, S, Binaso, K, Manuel, R, Simon, J, Appel, G, Blank, M, Tang, W, Thompson, A, Torra, R, Lieberman, K, Licht, C, Dahan, K, Nozu, K, Kai, H, Ricardo, S, Pariser, A, Feldman, D, Cook, H, Chin, M, Goldsberry, A, Meyer, C, Melia, L A, Komers, R, Markels, M, Mercer, A, Prunotto, M, Morgenstern, B, Hariri, A, Modur, V, Turner, N, Gross, O, Fornoni, A, Kashtan, C, Rheault, M, Baigent, C, Desacco, S, Perin, L, Barua, M, Nakanishi, K, Jarad, G & Miner, J 2020, ' Clinical trial recommendations for potential Alport syndrome therapies ', Kidney International, vol. 97, no. 6, pp. 1109-1116 . https://doi.org/10.1016/j.kint.2020.02.029
Alport syndrome is experiencing a remarkable increase in preclinical investigations. To proactively address the needs of the Alport syndrome community, as well as offer clarity for future clinical research sponsors, the Alport Syndrome Foundation hos
Autor:
Peter R. Griffiths, B. André Weinstock, John B. Paine, Matthew J. Pollard, Thomas E. Bitterwolf, A. Piers Newbery
Publikováno v:
Journal of Catalysis. 254:218-225
A nanocrystalline cobalt oxide (Co 3 O 4 )-based catalyst formed by heating a basic cobalt(II) carbonate precursor in air at 250–300 °C has been shown to exhibit much greater catalytic activity than Co 3 O 4 calcined at higher temperatures. In a h
Publikováno v:
Applied spectroscopy. 66(11)
We have developed a rapid, nondestructive analytical method that estimates the thickness of a surface polymer layer with high precision but unknown accuracy using a single attenuated total reflection Fourier transform infrared (ATR FT-IR) measurement
Publikováno v:
Applied spectroscopy. 62(4)
A method of rapid, nondestructive chemical and physical analysis of individual maize ( Zea mays L.) kernels is needed for the development of high value food, feed, and fuel traits. Near-infrared (NIR) spectroscopy offers a robust nondestructive metho
Publikováno v:
Applied Spectroscopy. Apr2008, Vol. 62 Issue 4, p423-426. 4p.
Autor:
William R. Forsyth, Julie Monagle, Sarah C. Lucier, W. Paul Duprex, Lisa D. Schlehuber, Christine Kitsos, Yu Shu, Jason H. Ho, Juan C. Alvarez, George Y. Lee, Christopher Moore, Iain Mcfadyen, B. André Weinstock, Colin R. Gardner, James Carignan, Douglas Levinson, Junhong Zhang, Josephine Ramos, Niem T. Nguyen
Publikováno v:
Vaccine. (31):5031-5039
As a result of thermal instability, some live attenuated viral (LAV) vaccines lose substantial potency from the time of manufacture to the point of administration. Developing regions lacking extensive, reliable refrigeration (“cold-chain”) infras
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