Zobrazeno 1 - 10
of 52
pro vyhledávání: '"C G, Keith"'
Publikováno v:
Clinical dysmorphology. 4(4)
We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma. The birth of an affected offspring suggests that this syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42acc19c9315d4c3a7d6a436b4bd08b
https://pubmed.ncbi.nlm.nih.gov/8574420
https://pubmed.ncbi.nlm.nih.gov/8574420
Autor:
J, Michaud, G N, Thompson, L C, Brody, G, Steel, C, Obie, G, Fontaine, K, Schappert, C G, Keith, D, Valle, G A, Mitchell
Publikováno v:
American journal of human genetics. 56(3)
We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bed672f57f1a12fcf5d348288d1d0341
https://pubmed.ncbi.nlm.nih.gov/7887415
https://pubmed.ncbi.nlm.nih.gov/7887415
Autor:
C G, Keith, L W, Doyle
Publikováno v:
Pediatrics. 95(1)
To review the survival rate, the incidence and severity of retinopathy of prematurity (ROP), and the rate of blindness caused by ROP in extremely low birth weight (ELBW, birth weight 500 to 999 g) infants born between January 1, 1977, and December 31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b28d5542a9dcaf3831843805e0ce3421
https://pubmed.ncbi.nlm.nih.gov/7761236
https://pubmed.ncbi.nlm.nih.gov/7761236
Autor:
C G, Keith
Publikováno v:
The Medical journal of Australia. 158(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::281e3cd4940d9ec0708dcf775b7d5723
https://pubmed.ncbi.nlm.nih.gov/8479380
https://pubmed.ncbi.nlm.nih.gov/8479380
Publikováno v:
American journal of medical genetics. 44(1)
A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0d735c62b386c25d057e6c8fd97212
https://pubmed.ncbi.nlm.nih.gov/1519643
https://pubmed.ncbi.nlm.nih.gov/1519643
We report a baby with the features of Rieger syndrome and a de novo interstitial deletion of 4q which includes band 4q26 and an adjoining GTL light band, either q25 or q27. Rieger syndrome is provisionally mapped to 4q23----q27 but band 4q26 has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7737b28cf62373a9f43f423a48d1067
https://europepmc.org/articles/PMC1015927/
https://europepmc.org/articles/PMC1015927/
Publikováno v:
Ophthalmic paediatrics and genetics. 12(2)
One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5030587a9727716e7177a095dee9e1
https://pubmed.ncbi.nlm.nih.gov/1923319
https://pubmed.ncbi.nlm.nih.gov/1923319
Autor:
C G Keith
Publikováno v:
Australian and New Zealand Journal of Ophthalmology. 19:367-367
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d0f2dc751f8084a6d91583d5635426d
https://doi.org/10.1111/j.1442-9071.1991.tb00689.x
https://doi.org/10.1111/j.1442-9071.1991.tb00689.x
Autor:
C. G. Keith, John L. Crompton
Publikováno v:
Australian and New Zealand Journal of Ophthalmology. 4:94-98
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2337e64685b73a0ef835c1b1c71d99d
https://doi.org/10.1111/j.1442-9071.1976.tb00857.x
https://doi.org/10.1111/j.1442-9071.1976.tb00857.x
Autor:
W Russo, J.V. Lissenden, C G Keith, J.R.M Nave, Jill Astbury, A Rickards, B Bajuk, G.W Ford, M M Ryan, Victor Y H Yu, A. A. Orgill, W.H. Kitchen
Publikováno v:
The Lancet. 319:1457-1460
Two large perinatal centres in Melbourne, Australia collaborated in standardised assessment of surviving very-low-birthweight (500-1500 g) infants born in 1977 and 1978. 291 (97·3%) of the 299 long-term survivors were assessed at or shortly after th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13c8388fc514f8ede3605a1c30cbd3fb
https://doi.org/10.1016/s0140-6736(82)92464-3
https://doi.org/10.1016/s0140-6736(82)92464-3