Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Heema Patel"'
Autor:
Laureen Jacquet, Emma Stephenson, Robert Collins, Heema Patel, Jane Trussler, Roaa Al‐Bedaery, Pamela Renwick, Caroline Ogilvie, Robert Vaughan, Dusko Ilic
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 1, Pp 10-17 (2012)
Abstract Here, we describe a pre‐derivation embryo haplotyping strategy that we developed in order to maximize the efficiency and minimize the costs of establishing banks of clinical grade hESC lines in which human leukocyte antigen (HLA) haplotype
Externí odkaz:
https://doaj.org/article/ea9bd21c1a0045e0a314854604b56604
Publikováno v:
Journal of the American College of Cardiology. 77:1466
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::685f04c617b6fdb878641ef549113f77
https://doi.org/10.1016/s0735-1097(21)02824-2
https://doi.org/10.1016/s0735-1097(21)02824-2
Autor:
Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi
Publikováno v:
The American Journal of Human Genetics. 87:655-660
In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2ccbdf91cc79bed25c4ce042747cec
https://doi.org/10.1016/j.ajhg.2010.09.013
https://doi.org/10.1016/j.ajhg.2010.09.013
Autor:
Thomas T. Warner, Nigel G. Laing, Maria Tsaousidou, Philip A. Wilkinson, Andrew H. Crosby, Philippa J. Lamont, Heema Patel, Michael A. Patton, Ricardo E. Madrid, Fayçal Hentati, Afif Hentati, Michael A. Simpson, Yi Yang, Teepu Siddique, Karim Ouahchi
Publikováno v:
The American Journal of Human Genetics. 82:510-515
The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef6d7f2fcceaf5c92223804f9d9c1d9
https://doi.org/10.1016/j.ajhg.2007.10.001
https://doi.org/10.1016/j.ajhg.2007.10.001
Publikováno v:
Experimental Cell Research. 312:2764-2777
Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons. Using a polyclonal antibody against spartin to gain insight into the function of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e514bd90c52c0765cd694430537357
https://doi.org/10.1016/j.yexcr.2006.05.003
https://doi.org/10.1016/j.yexcr.2006.05.003
Autor:
Michael A. Simpson, Heema Patel, Phillip A. Wilkinson, Andrew H. Crosby, Michael A. Patton, Thomas T. Warner, Johanna A. Reed, Arnaud Chatonnet, Dimitri Robay
Publikováno v:
Neurogenetics. 6:79-84
The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterised by lower limb spasticity and weakness. Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce2a42bf168fd2224b2e271228ff4323
https://doi.org/10.1007/s10048-004-0209-9
https://doi.org/10.1007/s10048-004-0209-9
Autor:
Heema Patel, P.E. Hart, Andrew H. Crosby, T.T. Warner, Michael A. Patton, Stephen Jeffery, Richard S. Houlston
Publikováno v:
The American Journal of Human Genetics. 69(1):209-215
The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da60cc415fba43a1d7be514749693ff2
Autor:
Richard S. Houlston, Andrew H. Crosby, T. Fenn, M. Nardelli, Aman S. Coonar, Michael A. Patton, Heema Patel
Publikováno v:
British Journal of Dermatology. 144:731-734
Background The inherited palmoplantar keratodermas (PPKs) are a clinically heterogeneous group of disorders characterized by thickening of the skin of the palms and the soles. These diseases also exhibit genetic heterogeneity and many autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15de77be8f8bf6a72e9ec59108fe27f8
https://doi.org/10.1046/j.1365-2133.2001.04127.x
https://doi.org/10.1046/j.1365-2133.2001.04127.x
Autor:
Thomas T. Warner, Andrew H. Crosby, Heema Patel, P.E. Hart, H.E. Phillimore, J.R. Silver, Stephen Jeffery, Michael A. Patton, I. Allen, Nicholas W. Wood
Publikováno v:
American Journal of Medical Genetics. 102:68-72
The hereditary spastic paraplegias are a clinically variable and genetically heterogeneous group of disorders characterized by progressive and lower limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling autosomal dominant for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6b505a59b75614ab4d0acd44e95246c
https://doi.org/10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co
https://doi.org/10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co
Autor:
R. Collins, Caroline Mackie Ogilvie, Jane Trussler, Roaa Al-Bedaery, Emma Stephenson, Dusko Ilic, Robert Vaughan, Pamela Renwick, Heema Patel, Laureen Jacquet
Publikováno v:
EMBO Molecular Medicine
Here, we describe a pre-derivation embryo haplotyping strategy that we developed in order to maximize the efficiency and minimize the costs of establishing banks of clinical grade hESC lines in which human leukocyte antigen (HLA) haplotypes match a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad676c2ff24e2260248bdaeb6956e87b
https://pubmed.ncbi.nlm.nih.gov/23161805
https://pubmed.ncbi.nlm.nih.gov/23161805