Zobrazeno 1 - 10
of 149
pro vyhledávání: '"D B Grant"'
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
Autor:
Michael P. Whyte, Ieuan A. Hughes, S L Chew, Simon H. S. Pearce, D Trump, D A Heath, C R Paterson, D B Grant, G M Besser, C Wooding
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e1a3c8a323b9cd9c883721bd66437a
https://doi.org/10.1172/jci118335
https://doi.org/10.1172/jci118335
Autor:
C. Dicks-Mireaux, S. G. Mitton, R. De Bruyn, Jamilah Taylor, F. Campbell, W. K. Ng, D. B. Grant
Publikováno v:
Acta Paediatrica. 79:1194-1198
Fifty-four neonates with congenital hypothyroidism identified by the North East and North West Thames Regional hypothyroid screening programme between January 1985 and December 1987 were investigated with radioisotope (Tc99m) and ultrasound scans of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc5a007b1d9088356da3add65eb8d018
https://doi.org/10.1111/j.1651-2227.1990.tb11409.x
https://doi.org/10.1111/j.1651-2227.1990.tb11409.x
Publikováno v:
Archives of Disease in Childhood. 77:219-222
To assess educational attainments, behaviour, and motor skills at 10 years of age in a group of children with congenital hypothyroidism identified by neonatal screening.59 children with congenital hypothyroidism born in 1978-81, 31 cases with pretrea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4a2196e9ef3d265c82a999416c737d
https://doi.org/10.1136/adc.77.3.219
https://doi.org/10.1136/adc.77.3.219
Publikováno v:
Archives of Disease in Childhood. 75:108-114
The growth and endocrine sequelae of 75 children (33 girls and 42 boys) with craniopharyngioma, treated from 1973 to 1994, were studied by retrospective review and by follow up assessment in 66 survivors, with a mean time from initial surgery of 6.7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f224130e1a5a7d7ecea60001bf55907
https://doi.org/10.1136/adc.75.2.108
https://doi.org/10.1136/adc.75.2.108
Autor:
D B Grant
Publikováno v:
Archives of Disease in Childhood. 72:85-89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058f201db3a03f755790069fb28a8799
https://doi.org/10.1136/adc.72.1.85
https://doi.org/10.1136/adc.72.1.85
Autor:
Lars Kayser, Anette Grüters-Kieslich, François Delange, Hans Perrild, D. B. Grant, Enio Martino, Ulla Feldt-Rasmussen
Publikováno v:
European Journal of Endocrinology. 131:467-473
Perrild H, Grüters-Kieslich A, Feldt-Rasmussen U, Grant D, Martino E, Kayser L, Delange F. Diagnosis and treatment of thyrotoxicosis in childhood. A European questionnaire study. Eur J Endocrinol 1994;131:467–73. ISSN 0804–4643 A covering letter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36eff3f1bbeeac00d17fa6e9cdd33c28
https://doi.org/10.1530/eje.0.1310467
https://doi.org/10.1530/eje.0.1310467
Publikováno v:
BMJ. 309:440-4
Objectives : To assess whether early treatment of congenital hypothyroidism fully prevents intellectual impairment. Design : A national register of children with congenital hypothyroidism who were compared with unaffected children from the same schoo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d3d379d0872066f8d9e307f4457e22
https://doi.org/10.1136/bmj.309.6952.440
https://doi.org/10.1136/bmj.309.6952.440
Autor:
D. B. Grant, Andrew O.M. Wilkie, M. Mullarkey, S. M. Huson, F. M. Campbell, Piers E.F. Daubeney, R. J. Daniels, M. Fitchett, Nabeel A. Affara
Publikováno v:
American Journal of Medical Genetics. 46:597-600
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY,del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,−10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa03620637427bb33629c8f6b446182d
https://doi.org/10.1002/ajmg.1320460527
https://doi.org/10.1002/ajmg.1320460527
Publikováno v:
Journal of Child Psychology and Psychiatry. 33:1241-1247
Between 1987 and 1990 IQ scores for 333 5-year-old white school children were obtained using the Wechsler Pre-School and Primary Scale of Intelligence (WPPSI) and the results were compared with 112 children assessed in 1967. The mean full scale IQ sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91ca1054bb72bad5f29f5420bdef171
https://doi.org/10.1111/j.1469-7610.1992.tb00942.x
https://doi.org/10.1111/j.1469-7610.1992.tb00942.x
Publikováno v:
Molecular and Cellular Biology. 10:3873-3883
The adenylate cyclase system of the yeast Saccharomyces cerevisiae contains the CYR1 polypeptide, responsible for catalyzing formation of cyclic AMP (cAMP) from ATP, and two RAS polypeptides, which mediate stimulation of cAMP synthesis of guanine nuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0af08b02adb25cc7c8b04f877db41d
https://doi.org/10.1128/mcb.10.8.3873-3883.1990
https://doi.org/10.1128/mcb.10.8.3873-3883.1990