Zobrazeno 1 - 10
of 17
pro vyhledávání: '"T. R. P. Cole"'
Autor:
L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, T R P Cole
Publikováno v:
Endocrine Connections, Vol 8, Iss 2, Pp 100-111 (2019)
Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challengin
Externí odkaz:
https://doaj.org/article/3504173a481b4ea99be0a836dbed1512
Autor:
T. R. P. Cole, H E Hughes
Publikováno v:
Journal of Medical Genetics. 31:20-32
Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c7ea9d3403d9862b124a95896c7780
https://doi.org/10.1136/jmg.31.1.20
https://doi.org/10.1136/jmg.31.1.20
Autor:
H. W. Venema, T. R. P. Cole, J. W. E. Oorthuys, R. E. T. Nocker, J. Oosting, Piet F. Dijkstra
Publikováno v:
American journal of medical genetics, 51(1), 55-60. Wiley-Liss Inc.
Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d6e10eb6d7d6140e33d621dac8cb59
https://doi.org/10.1002/ajmg.1320510113
https://doi.org/10.1002/ajmg.1320510113
Publikováno v:
Journal of Medical Genetics. 28:734-737
In 1990 the existence of an X linked form of the alpha thalassaemia/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here support
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b9e4ae87e1f1022c0f8f459a0fb8dc7
https://doi.org/10.1136/jmg.28.11.734
https://doi.org/10.1136/jmg.28.11.734
Autor:
H. E. Hughes, T. R. P. Cole
Publikováno v:
American Journal of Medical Genetics. 41:115-124
During the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable similarities to each other and to a further 11 first- and second-degree relatives. Clinical features i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a5c17a8464756c62ad20927a7c80b
https://doi.org/10.1002/ajmg.1320410128
https://doi.org/10.1002/ajmg.1320410128
Autor:
M.I. Rees, David Ravine, Meena Upadhyaya, R.T. Howell, Peter Thompson, Katherine Baker, T R P Cole, H. E. Hughes
Editor—Reports of interstitial deletions involving the long arm of chromosome 2 are uncommon.1-10 Among these, there are only four which involve the region q14q21. We report a further case with a paternally derived de novo interstitial deletion of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5048a0b59b87ed66a05e7fa68699003b
https://europepmc.org/articles/PMC1757176/
https://europepmc.org/articles/PMC1757176/
Autor:
H. E. Hughes, T. R. P. Cole
Publikováno v:
American Journal of Medical Genetics. 44:72-74
We report an infant with congenital contractural arachnodactyly and a unilateral lower limb deficiency. © 1992 Wiley-Liss, Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c497a7e1ce7727d5340b918be0927b96
https://doi.org/10.1002/ajmg.1320440117
https://doi.org/10.1002/ajmg.1320440117
Autor:
T R P Cole, H V Sleightholme
Publikováno v:
BMJ (Clinical research ed.). 321(7266)
Before 1990 the role of inherited factors in the aetiology of adult cancer was relatively poorly understood and aroused little interest among doctors and the public alike—although familial adenomatous polyposis (the autosomal dominant colon cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3012f6b6a9309c0e1ca06db139825276
https://pubmed.ncbi.nlm.nih.gov/11030689
https://pubmed.ncbi.nlm.nih.gov/11030689
Publikováno v:
Archives of disease in childhood. 80(4)
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33988ba363453d56bfa0cebaf588c70
https://pubmed.ncbi.nlm.nih.gov/10086939
https://pubmed.ncbi.nlm.nih.gov/10086939
Publikováno v:
Journal of medical genetics. 34(10)
We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respirato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cf311e1a4ad4b0075c6d2783082974
https://pubmed.ncbi.nlm.nih.gov/9350818
https://pubmed.ncbi.nlm.nih.gov/9350818