Zobrazeno 1 - 10
of 105
pro vyhledávání: '"C. C. Davison"'
Autor:
R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie, D. R. Higgs
Publikováno v:
American Journal of Medical Genetics. 55:288-299
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45f431c63e13739bfda0bb7d0f6aa2b
https://doi.org/10.1002/ajmg.1320550309
https://doi.org/10.1002/ajmg.1320550309
Publikováno v:
Journal of Medical Genetics. 33:594-596
We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daugh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b49db8bde17f31e061870cde495bc58
https://doi.org/10.1136/jmg.33.7.594
https://doi.org/10.1136/jmg.33.7.594
Autor:
C. C. Davison
The Penn State Breazeale Nuclear Reactor is the longest operating licensed research reactor in the nation. The facility has played a key role in educating scientists, engineers and in providing facilities and services to researchers in many different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa5ab82f5a570524efec07188fc1fc36
https://doi.org/10.2172/836596
https://doi.org/10.2172/836596
Publikováno v:
Medical and veterinary entomology. 14(3)
Summary The species of ixodid ticks, attached to dogs and cats presented to veterinary practices in Great Britain and Ireland were identified. Most host animals carried only one tick species with Ixodes ricinus Linne (Acari: Ixodidae) being the most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef2684ecca6a8d7603567ac06056f1e
https://pubmed.ncbi.nlm.nih.gov/11016442
https://pubmed.ncbi.nlm.nih.gov/11016442
Publikováno v:
American Journal of Medical Genetics. 36:310-312
A first case of "pure" trisomy 20q (q11.2-qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa277b60a515a389500891e392708251
https://doi.org/10.1002/ajmg.1320360313
https://doi.org/10.1002/ajmg.1320360313
We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b3fe976ae242a62be9a863782b5ee8
https://europepmc.org/articles/PMC504131/
https://europepmc.org/articles/PMC504131/
Autor:
E. Eastham, R. Mueller, F. Anad, I. Cross, D. Matthews, John Burn, D. M. Lillington, M. Sands, B. C. C. Davison
Publikováno v:
Journal of medical genetics. 27(12)
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083487e03cd084d04dcf3b24a621d984
https://pubmed.ncbi.nlm.nih.gov/2074558
https://pubmed.ncbi.nlm.nih.gov/2074558
Publikováno v:
SEG Technical Program Expanded Abstracts 1990.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d1973f257e7e650d6b3e79268f2f5ee
https://doi.org/10.1190/1.1890132
https://doi.org/10.1190/1.1890132
Autor:
J. A. Vonhof, C. C. Davison
Publikováno v:
Ground Water. 16:341-350
Ground-water samples from a portion of a semi-confined buried glacial channel aquifer in southeastern Saskatchewan, Canada, were collected and analyzed to determine the spatial and temporal variations of the major chemical constituents, pH, Eh and Fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::074d3b7391d579d56b2048fa355e4f90
https://doi.org/10.1111/j.1745-6584.1978.tb03247.x
https://doi.org/10.1111/j.1745-6584.1978.tb03247.x
Autor:
R. F. Mueller, John M. Opitz, James F. Reynolds, R. A. K. Jones, B. C. C. Davison, P. M. Crowle
Publikováno v:
American journal of medical genetics. 20(1)
Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi-Hunerman form. Clinico-genetic analysis of this latter form of CP uncovered a sub-gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347676081aa25731e991d1a166dcd638
https://pubmed.ncbi.nlm.nih.gov/4038582
https://pubmed.ncbi.nlm.nih.gov/4038582