Zobrazeno 1 - 10
of 41
pro vyhledávání: '"D J, Brock"'
Maternal serum alpha-fetoprotein (AFP) levels were higher in 10 twin pregnancies and one triplet pregnancy than in 22 control singleton pregnancies matched for maternal age, parity, and the time of gestation at which the serum sample was taken. In tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ecdf965db21ccbb9091e9c90bf35af
https://ora.ox.ac.uk/objects/uuid:a9f2f3ef-d093-412e-bb8d-059c89a9a642
https://ora.ox.ac.uk/objects/uuid:a9f2f3ef-d093-412e-bb8d-059c89a9a642
Publikováno v:
Clinical Chemistry. 40:197-199
Two different assay systems were used to detect mutant cystic fibrosis alleles in mouthwash samples from pregnant women attending antenatal clinics. In the first phase of the study, comprising 3110 consecutive samples, we compared the performance of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df99e2f3fcd2071e7db4230851464731
https://doi.org/10.1093/clinchem/40.2.197
https://doi.org/10.1093/clinchem/40.2.197
Publikováno v:
Prenatal diagnosis. 17(9)
A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd040ee528eb6e3b53bf18a5f2771c2f
https://pubmed.ncbi.nlm.nih.gov/9316130
https://pubmed.ncbi.nlm.nih.gov/9316130
Publikováno v:
Human mutation. 10(4)
Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc25bec5c7ec5237b69dc12d830844e9
https://pubmed.ncbi.nlm.nih.gov/9338581
https://pubmed.ncbi.nlm.nih.gov/9338581
Autor:
C, Hayward, D J, Brock
Publikováno v:
Human mutation. 10(6)
Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb1eb26a991ea929b671de3d71691aa9
https://pubmed.ncbi.nlm.nih.gov/9401003
https://pubmed.ncbi.nlm.nih.gov/9401003
Publikováno v:
Lancet (London, England). 347(9013)
The objective of this study was to show the long-term psychological effects of population-based screening for cystic fibrosis.The sample comprised all carriers (n = 435) and, for each carrier, two matched screen-negative individuals (n = 870) detecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33dd2d71cd8e5284fb875d98668733dd
https://pubmed.ncbi.nlm.nih.gov/8676620
https://pubmed.ncbi.nlm.nih.gov/8676620
Publikováno v:
Human molecular genetics. 3(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e77e3c296e44a9486b6bc7e377245bcc
https://pubmed.ncbi.nlm.nih.gov/8069312
https://pubmed.ncbi.nlm.nih.gov/8069312
Publikováno v:
Clinical chemistry. 40(2)
Two different assay systems were used to detect mutant cystic fibrosis alleles in mouthwash samples from pregnant women attending antenatal clinics. In the first phase of the study, comprising 3110 consecutive samples, we compared the performance of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bfbe7282d51bb2b30dda0c85d525cfc
https://pubmed.ncbi.nlm.nih.gov/8313593
https://pubmed.ncbi.nlm.nih.gov/8313593
Autor:
A E, Shrimpton, D J, Brock
Publikováno v:
Genetic counseling (Geneva, Switzerland). 3(1)
We have screened 100 partners of known or suspected CF heterozygotes for ten CF mutations which account for 88% of the CF mutations seen by us on CF chromosomes. We have identified six CF heterozygotes amongst the 100 low-risk people screened. As two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a3740e9283c304cfb8dfc98b6a5c78c
https://pubmed.ncbi.nlm.nih.gov/1375470
https://pubmed.ncbi.nlm.nih.gov/1375470
Autor:
K, Kainulainen, B, Steinmann, F, Collins, H C, Dietz, C A, Francomano, A, Child, M W, Kilpatrick, D J, Brock, M, Keston, R E, Pyeritz
Publikováno v:
American journal of human genetics. 49(3)
Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the phenotypic expression and late manifestation of sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d371f9d3c709d27172eb01a37356880
https://pubmed.ncbi.nlm.nih.gov/1882844
https://pubmed.ncbi.nlm.nih.gov/1882844