Zobrazeno 1 - 10
of 42
pro vyhledávání: '"ANTHEA STEPHENSON"'
Autor:
Mark A. Birch-Machin, S. Darlington, C. E. Belgaid, Andrew G. Messenger, C. Punter, Henning Hamm, Bernhard P. Korge, Colin S. Munro, S. Holmes, Anthea Stephenson, Heiko Traupe, Eugene Healy, Jonathan L. Rees, C. Mauch
Publikováno v:
Experimental Dermatology. 8:295-369
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fff9afe4170a6bded71f60cd7e22f8d7
https://doi.org/10.1111/j.1600-0625.1999.tb00384.x
https://doi.org/10.1111/j.1600-0625.1999.tb00384.x
Publikováno v:
Caterer (2055-7817). 12/14/2018, Vol. 207 Issue 5054, p5-5. 1/3p.
Autor:
Mark A. Birch-Machin, Richard Turner, Andrew G. Messenger, Jonathan L. Rees, Eugene Healy, C.E. Belgaid, Anthea Stephenson, Faye Haldane, Colin S. Munro, S. Darlington
Publikováno v:
British Journal of Dermatology. 137:339-343
Monilethrix is an autosomal dominant disorder chiefly affecting hair. The degree of hair dystrophy is highly variable, as is the presence of additional features, such as follicular keratoses. In three British families of monilethrix, linkage has rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eae418f1ee5419a80c0bf6858a76519
https://doi.org/10.1111/j.1365-2133.1997.tb03735.x
https://doi.org/10.1111/j.1365-2133.1997.tb03735.x
Autor:
Mayana Zatz, Tom Strachan, Anthea Stephenson, Luciana Vasquez, Ibrahim Mahneh, Katharine Bushby, Egbert Bakker, Sharon Keers, Eloisa de Sá Moreira, Suely Kazue Nagahashi Marie, M. Rita Passos-Bueno, Jean Weissenbach, Ramaisa Bashir, Mariz Vainzof, Paula Iughetti
Publikováno v:
Genomics. 27:192-195
The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d991742d81dbe8b4f85950aa39d5dd9c
https://doi.org/10.1006/geno.1995.1024
https://doi.org/10.1006/geno.1995.1024
Autor:
Raju Kucherlapati, Rumaisa Bashir, Eugene Healy, S Bryce, Janine M. LeBlanc-Straceski, Anthea Stephenson, Jean Weissenbach, Colin S. Munro, Tom Strachan, S. Carter, Jonathan L. Rees
Publikováno v:
Genomics. 24:378-382
Darier disease is a dominantly inherited skin disorder in which there appears to be abnormal adhesion between keratinocytes. We and others have shown that the disease in some British pedigrees is closely linked to markers mapping to 12q23-q24.1. In t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639c681baf0ab8a92af10dccc73162b6
https://doi.org/10.1006/geno.1994.1632
https://doi.org/10.1006/geno.1994.1632
Autor:
Colin S. Munro, Susan M. Mason, Anthea Stephenson, Rumaisa Bashir, Jonathan L. Rees, Tom Strachan
Publikováno v:
Human Molecular Genetics. 2:1937-1939
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1a633b75aed6fbf12a442b788f5882e
https://doi.org/10.1093/hmg/2.11.1937
https://doi.org/10.1093/hmg/2.11.1937
Autor:
Ibrahim Mahjneh, Sharon Keers, Rumaisa Bashir, Anthea Stephenson, Tom Strachan, G. Marconi, Lina Nashef, K. Bushby
Publikováno v:
Human molecular genetics. 3(3)
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred families of different ethnic origin and excluded linkage to LGMD2 on chromosome 15q and SCARMD on chromosome 13.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b7d9c6b37ede9b00d48a6083c92220
https://pubmed.ncbi.nlm.nih.gov/8012357
https://pubmed.ncbi.nlm.nih.gov/8012357
Autor:
Rumaisa Bashir, Janet C. Lindsey, C F Inglehearn, Shomi S. Bhattacharya, Anthea Stephenson, M Al-Maghtheh, T J Keen, A. T. Moore, S. Carter, Marcelle Jay, A C Bird
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
3 páginas, 2 figuras, 2 tablas.-- et al.
Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes—rhodopsin and peripherin—while a third locus has been implicated by linkage data. Howev
Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes—rhodopsin and peripherin—while a third locus has been implicated by linkage data. Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5553fba79c01e45bad4f030f20f436
http://hdl.handle.net/10261/40413
http://hdl.handle.net/10261/40413
Autor:
DAVID PHILLIPS, SANDRA McLACHLAN, ANTHEA STEPHENSON, DEREK ROBERTS, SANDRA MOFFITT, DOROTHY McDONALD, ALI AD'HIAH, ANN STRATTON, ERIC YOUNG, FREDERICK CLARK, KAREN BEEVER, KAREN BRADBURY, BERNARD REES-SMITH
Publikováno v:
The Journal of clinical endocrinology and metabolism. 70(3)
The inheritance of autoantibodies to thyroglobulin and thyroid peroxidase (thyroid microsomal antigen) has been reevaluated with newly developed ultrasensitive assays that depend on the direct interaction between antibody and radiolabeled antigen. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92198d35a291db863a6d899b44a9852
https://pubmed.ncbi.nlm.nih.gov/2307728
https://pubmed.ncbi.nlm.nih.gov/2307728
Autor:
Mark A. Birch-Machin, C.E. Belgaid, S. Darlington, Anthea Stephenson, Bernhard P. Korge, C. Punter, C. Mauch, S. Holmes, Jonathan L. Rees, Colin S. Munro, Heiko Traupe, Eugene Healy, Andrew G. Messenger, Henning Hamm
Publikováno v:
Clinical and Experimental Dermatology. 22:248-248
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::783f991a2f100c4356320e7a045e8be4
https://doi.org/10.1046/j.1365-2230.1997.2360677.x
https://doi.org/10.1046/j.1365-2230.1997.2360677.x