Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Paul L. Campbell"'
Publikováno v:
Human Genetics. 108:318-327
Females with balanced X-autosome translocations are a clinically heterogeneous group of patients in which X breakpoint position and replication behaviour may influence phenotypic outcome. This study reviewed all cases reported by UK cytogenetics labo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3986765a2193323824ae412cc65241d9
https://doi.org/10.1007/s004390100465
https://doi.org/10.1007/s004390100465
Autor:
John C K Barber, Paul L. Campbell, K. J. Moore, N. M. Gregson, Annie Herbert, Andrew M. Fisher, C. M. Campbell, John A. Crolla, Annette E. Cockwell
Publikováno v:
Prenatal Diagnosis. 16:615-621
Thirty perinatal solid tissue samples were used in a pilot study to test the efficacy of collagenase disaggregation onto coverslips, open system culture under low O 2 conditions, pre-harvest incubation in bromodeoxyuridine (BrdU) and colcemid, and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9597c0956bc915c500f233b8add170b5
https://doi.org/10.1002/(sici)1097-0223(199607)16:7<615::aid-pd920>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199607)16:7<615::aid-pd920>3.0.co
Publikováno v:
Journal of Biological Chemistry. 271:8328-8337
Using autoantibodies from a Sjogren's syndrome patient, we have previously identified a 230-kDa peripheral membrane protein associated with the cytosolic face of the trans-Golgi (Kooy, J., Toh, B. H., Pettitt, J. M., Erlich, R. and Gleeson, P. A. (19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f16a4752f925609eed29b86fa85aa25
https://doi.org/10.1074/jbc.271.14.8328
https://doi.org/10.1074/jbc.271.14.8328
Autor:
John A. Crolla, R. S. James, Annette E. Cockwell, Tracy Ann Wilkinson, Paul L. Campbell, I. Karen Temple
Publikováno v:
Prenatal Diagnosis. 16:371-374
We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b05446aff0774cbcc09589d027923107
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<371::aid-pd866>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<371::aid-pd866>3.0.co
Autor:
I. Karen Temple, John C K Barber, Carolyn M. Campbell, Morag N. Collinson, Nichola R. Dennis, Richard M. Renshaw, Paul L. Campbell
Publikováno v:
American Journal of Medical Genetics. 62:84-90
We present two families with different distal long arm 5;10 translocations. In one family the propositus and his mother inherited the same derived chromosome 10 from the maternal grandfather who has a balanced t(5;10)(q35.3;q26.13). The phenotype of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02f0cbca20b1f197715f9740c43ae2bd
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<84::aid-ajmg17>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<84::aid-ajmg17>3.0.co
Autor:
Robert G. Parton, Fi Tjen Mu, Jing Ping Yeo, James McCluskey, Judy M. Callaghan, Ban-Hock Toh, Harald Stenmark, Olivia Steele-Mortimer, Paul L. Campbell, E. P. C. Tock
Publikováno v:
Journal of Biological Chemistry. 270:13503-13511
Early endosomes are cellular compartments receiving endocytosed material and sorting them for vesicular transport to late endosomes and lysosomes or for recycling to the plasma membrane. We have cloned a human cDNA encoding an evolutionarily conserve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31c68f410da3822a37ca7a9a2761bace
https://doi.org/10.1074/jbc.270.22.13503
https://doi.org/10.1074/jbc.270.22.13503
Autor:
William G. Wilson, Angelika Köhler, David C. Ward, Maximilian Muenke, William Allen, Hope H. Punnett, Patricia Bray-Ward, Ute Schell, Jeffrey R. Sawyer, Fa-Ten Kao, Robert Roger Lebel, Deeann E. Ward, Johannes Wienberg, Paul L. Campbell, David J. Aughton, Edward J. Lammer
Publikováno v:
Human molecular genetics. 5(2)
Holoprosencephaly (HPE) is a common developmental defect involving the brain and face in humans. Cytogenetic deletions in patients with HPE have localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here we report the molecular geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd51d21377e37731ead4a92c3b466a52
https://pubmed.ncbi.nlm.nih.gov/8824878
https://pubmed.ncbi.nlm.nih.gov/8824878