Rachel A. Gibson
Guy's Hospital
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Featured researches published by Rachel A. Gibson.
Human Mutation | 1996
Rachel A. Gibson; Neil V. Morgan; Laura H. Goldstein; Ian C. Pearson; I Kesterton; Nicola J. Foot; Stander Jansen; Charmaine Havenga; Thomas Pearson; Thomy J. L. de Ravel; Richard J. Cohn; Isabel M. Marques; Inderjeet Dokal; Irene Roberts; J. C. W. Marsh; Sarah E. Ball; R. David Milner; Juan C. Llerena; Elena Samochatova; Sheila P. Mohan; Pushpa Vasudevan; Farkondeh Birjandi; Atieh Hajianpour; Manuela Murer-Orlando; Christopher G. Mathew
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross‐linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical cleavage mismatch analysis or by single‐strand conformational polymorphism (SSCP). Five mutations were detected in four patients (5.3%), including two novel mutations (W22X and L496R). Nine polymorphisms were detected, seven of which have not been described previously (663A → G, L190F, IVS6 + 30C → T, 1312V, V449M, Q465R, and 1974G → A). Six of the nine polymorphisms occurred in patients or controls from the Tswana or Sotho chiefdoms of South Africa and were not found in 50 unrelated European controls. Restriction site assays were established for all 8 pathogenic mutations identified in the FAC gene to date and used to screen a total of 94 unrelated FA patients. This identified only one other group C patient, who was homozygous for the mutation IVS4 + 4A → T. This study indicates that the proportion of FA patients from complementation group C is generally likely to be less than 10%. Guidelines for the selection of FA patients for FAC mutation screening are proposed.
Nature Genetics | 1996
Sinoula Apostolou; Scott A. Whitmore; Joanna Crawford; Gregory G. Lennon; Grant R. Sutherland; David F. Callen; Leonarda lanzano; Maria Savino; Maria D'Apolito; Angelo Notarangeio; Elena Memeo; Maria Rosaria Piemontese; Leopoldo Zelante; Anna Savoia; Rachel A. Gibson; Alex J. Tipping; Neil V. Morgan; Sheila Hassock; Stander Jansen; Thomy J. L. de Ravel; Carola Van Berkell; Jan C. Pronk; Douglas F. Easton; Christopher G. Mathew; Orna Levran; Peter C. Verlander; Sat Dev Batish; Tamar Erlich; Arleen D. Auerbach; Anne-Marie Cleton-Jansen
Nature Genetics | 1995
Jan C. Pronk; Rachel A. Gibson; Anna Savoia; Mario Wijker; Neil V. Morgan; Salvatore Melchionda; Deborah Ford; Samia Temtamy; Juan J. Ortega; Stander Jansen; Charmaine Havenga; Richard J. Cohn; Thomy J. L. de Ravel; Irene Roberts; Andries Westerveld; Douglas F. Easton; Hans Joenje; Christopher G. Mathew; Fré Arwert
Human Molecular Genetics | 1993
Rachel A. Gibson; Atieh Hajianpour; Manuela Murer-Orlando; Manuel Buchwald; Christopher G. Mathew
Human Molecular Genetics | 1993
Rachel A. Gibson; Manuel Buchwald; Roland G. Roberts; Christopher G. Mathew
Genomics | 1997
Leonarda Ianzano; Maria D'Apolito; Marta Centra; Maria Savino; Orna Levran; Arleen D. Auerbach; Anne-Marie Cleton-Jansen; Norman A. Doggett; Jan C. Pronk; Alex J. Tipping; Rachel A. Gibson; Christopher G. Mathew; Scott A. Whitmore; Sinoula Apostolou; David F. Callen; Leopoldo Zelante; Anna Savoia
Genomics | 1998
Scott A. Whitmore; Joanna Crawford; Sinoula Apostolou; Helen J. Eyre; Elizabeth Baker; Karen M. Lower; Chatri Settasatian; Sandra Goldup; Ram Seshadri; Rachel A. Gibson; Christopher G. Mathew; Anne-Marie Cleton-Jansen; Anna Savoia; Jan C. Pronk; Arleen D. Auerbach; Norman A. Doggett; Grant R. Sutherland; David F. Callen
The Lancet | 1993
Manuela Murer-Orlando; Juan C. Llerena; Farkondeh Birjandi; Rachel A. Gibson; Christopher G. Mathew
Human Mutation | 1998
Jerome R. Lo Ten Foe; Frank A.E. Kruyt; M.B.M. Zweekhorst; Gerard Pals; Rachel A. Gibson; Christopher G. Mathew; Hans Joenje; Fré Arwert
Archive | 1994
Peter C. Verlander; JeanD . Lin; Masako U. Udono; Rachel A. Gibson; Christopher G. Mathew; D. Auerbach