Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Caro-Lyne DesRoches"'
Publikováno v:
Canadian Journal of Microbiology. 63:921-927
Fusarium graminearum is a plant pathogen that can cause the devastating cereal grain disease fusarium head blight in temperate regions of the world. Previous studies have shown that F. graminearum can synthetize indole-3-acetic acid (auxin) using l-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73c2487f61dd9f954dd41ff67d1b2c0
https://doi.org/10.1139/cjm-2017-0383
https://doi.org/10.1139/cjm-2017-0383
Autor:
Caro-Lyne DesRoches, Christian R. Marshall, Theodora Bruun, Saadet Mercimek-Mahmutoglu, Peixiang Wang
Publikováno v:
Human Mutation. 37:926-932
Arginine-glycine amidinotransferase (GATM) deficiency is an autosomal-recessive disorder caused by pathogenic variants in GATM. Clinical features include intellectual disability, hypotonia, and myopathy. Due to normal neurodevelopment in asymptomatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cb1b1a26fa6995229b13d91de536ecc
https://doi.org/10.1002/humu.23018
https://doi.org/10.1002/humu.23018
Autor:
Christian R. Marshall, Jaina Patel, Saadet Mercimek-Mahmutoglu, Berge A. Minassian, Gajja S. Salomons, Caro Lyne Desroches, Peixiang Wang
Publikováno v:
Gene, 565(2), 187-191. Elsevier
Desroches, C L, Patel, J, Wang, P X, Minassian, B, Salomons, G, Marshall, C R & Mercimek-Mahmutoglu, S 2015, ' Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene ', Gene, vol. 565, no. 2, pp. 187-191 . https://doi.org/10.1016/j.gene.2015.04.011
Desroches, C L, Patel, J, Wang, P X, Minassian, B, Salomons, G, Marshall, C R & Mercimek-Mahmutoglu, S 2015, ' Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene ', Gene, vol. 565, no. 2, pp. 187-191 . https://doi.org/10.1016/j.gene.2015.04.011
Creatine transporter deficiency (CRTR-D) is an X-linked inherited disorder of creatine transport. All males and about 50% of females have intellectual disability or cognitive dysfunction. Creatine deficiency on brain proton magnetic resonance spectro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a3e56404c92cf211e9b7efb9a7c5e2
https://doi.org/10.1016/j.gene.2015.04.011
https://doi.org/10.1016/j.gene.2015.04.011
Autor:
Toshiyuki Fukao, Tadashi Nakagawa, Vann Chau, Caro Lyne Desroches, Christian Marshall, Theodora Bruun, Shinya Hasegawa, Masahiro Yamasaki, Saadet Mercimek-Andrews, Diane Wilson
Publikováno v:
Obstetrical & Gynecological Survey. 73:564-565
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::164f340ba936a3e90b806eb3018f1672
https://doi.org/10.1097/01.ogx.0000547432.53231.19
https://doi.org/10.1097/01.ogx.0000547432.53231.19
Autor:
Caro-Lyne, DesRoches, Theodora, Bruun, Peixiang, Wang, Christian R, Marshall, Saadet, Mercimek-Mahmutoglu
Publikováno v:
Human mutation. 37(9)
Arginine-glycine amidinotransferase (GATM) deficiency is an autosomal-recessive disorder caused by pathogenic variants in GATM. Clinical features include intellectual disability, hypotonia, and myopathy. Due to normal neurodevelopment in asymptomatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f7b6a68212fac0e72178c569527621c9
https://pubmed.ncbi.nlm.nih.gov/27233232
https://pubmed.ncbi.nlm.nih.gov/27233232
Autor:
Jaina Patel, Peixiang Wang, Gajja S. Salomons, Christian R. Marshall, Caro Lyne Desroches, Berge A. Minassian, Saadet Mercimek-Mahmutoglu
Publikováno v:
Molecular Genetics and Genomics, 290(6), 2163-2171. Springer Verlag
Desroches, C L, Patel, J, Wang, P X, Minassian, B, Marshall, C R, Salomons, G & Mercimek-Mahmutoglu, S 2015, ' Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene ', Molecular Genetics and Genomics, vol. 290, no. 6, pp. 2163-2171 . https://doi.org/10.1007/s00438-015-1067-x
Desroches, C L, Patel, J, Wang, P X, Minassian, B, Marshall, C R, Salomons, G & Mercimek-Mahmutoglu, S 2015, ' Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene ', Molecular Genetics and Genomics, vol. 290, no. 6, pp. 2163-2171 . https://doi.org/10.1007/s00438-015-1067-x
Guanidinoacetate methyltransferase (GAMT) deficiency is a neurodegenerative disease. Although no symptomatic patients on treatment achieved normal neurodevelopment, three asymptomatic newborns were reported with normal neurodevelopmental outcome on n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c03b86265da4a3dbf06057f4ea28b8ac
https://research.vumc.nl/en/publications/d0c03744-c69e-42d9-a3dc-10a1c6ca3123
https://research.vumc.nl/en/publications/d0c03744-c69e-42d9-a3dc-10a1c6ca3123
