Zobrazeno 1 - 10
of 40
pro vyhledávání: '"R S Mibashan"'
Publikováno v:
Journal of clinical pathology. 46(1)
AIMS: To compare the International Normalised Ratio (INR) obtained directly with the two types of WHO plain International Reference Preparation for thromboplastin in patients treated with coumarin. METHODS: Prothrombin times were performed in paralle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d249d63813d634d0a3dfedf273156db3
https://pubmed.ncbi.nlm.nih.gov/8432892
https://pubmed.ncbi.nlm.nih.gov/8432892
Autor:
Kerstin Wieland, Vijay V. Kakkar, David Stuart Millar, Catherine B. Grundy, R. S. Mibashan, David Neil Cooper
Publikováno v:
Human Genetics. 86
A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0694c608adf92a515accc494d54614b4
https://doi.org/10.1007/bf00202408
https://doi.org/10.1007/bf00202408
Autor:
U. Martinowitz, David Neil Cooper, J. Stephenson, Michael Krawczak, V. V. Kakkar, D. Whitmore, R. S. Mibashan, Catherine B. Grundy, David Stuart Millar, Kerstin Wieland, R. A. Steinbrecher, Barbara Zoll
Publikováno v:
Human genetics. 86(2)
In a survey of 528 unrelated haemophilia A patients, six partial deletions of the factor VIII (FVIII) gene were detected by Southern blotting. These deletions were further mapped by a combination of Southern blotting and polymerase chain reaction amp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b8ed63ee120cd016f06a70f8608fa4a
https://pubmed.ncbi.nlm.nih.gov/2125022
https://pubmed.ncbi.nlm.nih.gov/2125022
Autor:
J K, Pattinson, D S, Millar, J H, McVey, C B, Grundy, K, Wieland, R S, Mibashan, U, Martinowitz, K, Tan-Un, M, Vidaud, M, Goossens
Publikováno v:
Blood. 76(11)
A directed-search strategy for point mutations in the factor VIII gene causing hemophilia A was used to screen eight potentially hypermutable CpG dinucleotides occurring at sites deemed to be of functional importance. Polymerase chain reaction-amplif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d2e19097885e3a323aa45a1d4652f661
https://pubmed.ncbi.nlm.nih.gov/1979502
https://pubmed.ncbi.nlm.nih.gov/1979502
Publikováno v:
The EMBO Journal. 8:1067-1072
Direct sequencing of amplified genomic DNA has been used to investigate the molecular basis of haemophilia B and thus identify specific amino acids that are essential for maintenance of structure or function of factor IX. Substitution of Cys 336, Asn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a64fb4859735c4373a1776086f5405
https://doi.org/10.1002/j.1460-2075.1989.tb03474.x
https://doi.org/10.1002/j.1460-2075.1989.tb03474.x
Publikováno v:
Prenatal Diagnosis. 2:189-194
Three twin pregnancies, each with one affected fetus (by microcephaly, haemophilia A and spina bifida respectively) were encountered. Selective feticide was performed at the patient's request by injection of filtered air into an umbilical vessel by f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce30ca66b774c92680fbfb53a526e51d
https://doi.org/10.1002/pd.1970020308
https://doi.org/10.1002/pd.1970020308
Publikováno v:
The EMBO Journal. 7:3009-3015
A novel factor IX gene mutation (factor IX London 2) has been characterized. This causes severe crm+ haemophilia B as the patient's plasma shows normal factor IX antigen level and less than 1% clotting activity. Sequence analysis of the entire cloned
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb5bdb2eea56109b9392e85fa5b7f37e
https://doi.org/10.1002/j.1460-2075.1988.tb03164.x
https://doi.org/10.1002/j.1460-2075.1988.tb03164.x
Publikováno v:
Prenatal Diagnosis. 7:171-178
Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of beta thalassaemia. The two methods correlated highly (r = 0.97 p less than 0.0005) and provided an id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84d195c74fb38e1b875e5ce97cb5e38
https://doi.org/10.1002/pd.1970070304
https://doi.org/10.1002/pd.1970070304
Autor:
C. Mentzer, D. R. Higgs, David H.K. Chui, Stephen H. Embury, Susan P. Perrine, Margie Patterson, R. S. Mibashan, T. A. Iarocci
Publikováno v:
Blood. 74:1409-1414
A sensitive and specific radioimmunoassay (RIA) for human embryonic zeta-globin chains was used to study normal fetal blood and newborn cord blood as well as cord blood from newborns with alpha-thalassemias. From 17 weeks until 37 weeks of gestation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf064dfb63893bde923e34b3cb4c5b3
https://doi.org/10.1182/blood.v74.4.1409.bloodjournal7441409
https://doi.org/10.1182/blood.v74.4.1409.bloodjournal7441409
Autor:
F. Plassa, A. Bellingham, Yves Beuzard, L. Varnavides, R. S. Mibashan, Yves Blouquit, Michel Vidaud, Philippe Rouyer-Fessard
Publikováno v:
Prenatal Diagnosis. 9:19-26
A new method, the cation exchange HPLC of haemoglobins, has been compared to the classical carboxymethyl cellulose (CMC) chromatography of globin chains for the prenatal diagnosis of beta thalassaemia and sickle cell disease. The two methods correlat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf64c3e864f99498778142aea22a19f
https://doi.org/10.1002/pd.1970090104
https://doi.org/10.1002/pd.1970090104