Zobrazeno 1 - 10
of 17
pro vyhledávání: '"A. M. O'rawe"'
Autor:
R. Mark Gardiner, Michel Philippart, Sandra L. Hofmann, Frederick Andermann, Irene L. Hofman, Patricia B. Munroe, Yanick J. Crow, Carlos Becerra, Eva Andermann, Peter E.M. Taschner, Hannah M. Mitchison, A. M. O'rawe, Sara E. Mole, Ruth E Williams, John B.P. Stephenson, Brian D. Lake, Jean Jacques Martin
Publikováno v:
Human Molecular Genetics. 7:291-297
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d49aa9e67e8606dea68a62e3604794ce
https://doi.org/10.1093/hmg/7.2.291
https://doi.org/10.1093/hmg/7.2.291
Autor:
Eddie M. K. Chung, M Al-Dabbagh, RM Gardiner, H. Blau, M Cheehab, S Polak-Charcon, M Meeks, A. M. O'rawe, SL Spiden, H D Hamam, HM Mitchison, E L Fehaid, H Simpson, H Mussaffi-Georgy, Amanda J. Walne
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3336f4e8628a3c256cd51b9dbd24b79
https://europepmc.org/articles/PMC1734555/
https://europepmc.org/articles/PMC1734555/
Autor:
H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, A M, O'Rawe
Publikováno v:
Human molecular genetics. 7(2)
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94f4f4babdf890d2f2c2c00fd22b6fff
https://pubmed.ncbi.nlm.nih.gov/9425237
https://pubmed.ncbi.nlm.nih.gov/9425237
Autor:
Sara E. Mole, K. L. D'arigo, RM Gardiner, A. C. Munk, Patricia B. Munroe, David F. Callen, HM Mitchison, Norman A. Doggett, Robert K. Moyzis, Peter E.M. Taschner, Gabriel Kremmidiotis, A. M. O'rawe, I Lensink, Martijn H. Breuning, John W. Anderson, N de Vos, Terry J. Lerner
Publikováno v:
Genomics. 40(2)
We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a cosmid clone containing CLN3 to sequence the entire gene in addition to 1.1 kb 5' of the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d02326c41b1eaf8bdbc980fac243104
https://pubmed.ncbi.nlm.nih.gov/9119403
https://pubmed.ncbi.nlm.nih.gov/9119403
Autor:
RM Gardiner, HM Mitchison, Sara E. Mole, David F. Callen, Bonnie A. Wallace, Na Doggett, Gabriel Kremmidiotis, Patricia B. Munroe, Peter E.M. Taschner, Terry J. Lerner, Janes Rb, A. M. O'rawe
Publikováno v:
Europe PubMed Central
The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods. A Saccharomyces cerevisiae gene, YHC3 (for Yeast Homologue to human CLN3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8791e1d91c1e92ca216d02b189169b4
https://pubmed.ncbi.nlm.nih.gov/9151311
https://pubmed.ncbi.nlm.nih.gov/9151311
Autor:
Terry J. Lerner, Irma Järvelä, Hannah M. Mitchison, Peter E.M. Taschner, Sara E. Mole, Patricia B. Munroe, A. M. O'rawe, Pirkko Santavuori, RM Gardiner
Publikováno v:
Europe PubMed Central
A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304935dccb780104cc72faa387989885
https://pubmed.ncbi.nlm.nih.gov/9151312
https://pubmed.ncbi.nlm.nih.gov/9151312
Autor:
Patricia B. Munroe, Irma Järvelä, Ann-Christine Syvänen, A. M. O'rawe, Sara E. Mole, HM Mitchison
Publikováno v:
Scopus-Elsevier
University of Helsinki
University of Helsinki
Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab443c8f89449ef0abb540d69b8742ca
https://europepmc.org/articles/PMC1050819/
https://europepmc.org/articles/PMC1050819/
Autor:
J A, Dodge, A M, O'Rawe
Publikováno v:
European journal of gastroenterologyhepatology. 8(8)
The achievement and maintenance of energy balance in cystic fibrosis (CF) is one of the central aims of management. Growth retardation in affected children and wasting in CF adults remain major clinical problems. We consider the basis for the energy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a3b91e149c7900d16b6ebe83ef3a1b4
https://pubmed.ncbi.nlm.nih.gov/8864668
https://pubmed.ncbi.nlm.nih.gov/8864668
Autor:
Patricia B. Munroe, Terry J. Lerner, RM Gardiner, Peter E.M. Taschner, A. M. O'rawe, K. L. D'arigo, Sara E. Mole, Mark Mundt, HM Mitchison, Norman A. Doggett, N de Vos, Martijn H. Breuning, M. Knight, Babetta L. Marrone, David F. Callen, Linda Meincke, Irma Järvelä, Andrew Thompson
Publikováno v:
Genomics. 29(2)
A yeast artificial chromosome (YAC) contig has been constructed in 16p12.1-p11.2 that encompasses three loci (D16S288, D16S299, and D16S298) closely linked to the gene causing Batten disease or juvenile-onset neuronal ceroid lipofuscinosis (CLN3). Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27db5f058dadc976d1651fe798917385
https://pubmed.ncbi.nlm.nih.gov/8666398
https://pubmed.ncbi.nlm.nih.gov/8666398