Zobrazeno 1 - 10
of 61
pro vyhledávání: '"H. Bullman"'
Autor:
M. White, J. Conroy, H. Bullman, M. Lever, E. Daly, D. R. Betts, D. Cody, John A. Crolla, S. A. Lynch
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We report a case of Albright hereditary osteodystrophy (AHO) in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical
Externí odkaz:
https://doaj.org/article/c57dc05719804bedafaf45d7991464c7
Autor:
Martin White, Sally Ann Lynch, D. Cody, David R. Betts, H. Bullman, Judith Conroy, John A. Crolla, M. Lever, Erin R. Daly
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Case Reports in Genetics
Case Reports in Genetics
We report a case of Albright hereditary osteodystrophy (AHO) in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical
Autor:
Sara H Bullman, Eman M. EL-Masry, Larry B. Goldstein, Mohamed B. Abou-Donia, Anjelika Dechkovskaia, Ali Abdel-Rahman, Wasiuddin A. Khan
Publikováno v:
Journal of Toxicology and Environmental Health, Part A. 67:331-356
Malathion (O,O-dimethyl-S-[1,2-carbethoxyethyl]phosphorodithionate), DEET (N,N-diethyl-m-toluamide), and permethrin [(+/-)-cis/trans-3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropane carboxylic acid (3-phenoxyphenyl) methyl ester] are commonly used pe
Publikováno v:
Journal of Medical Genetics. 30:454-459
The fragile X mutation can now be recognised by a variety of molecular techniques. We report a pilot screening survey of a population of children with mental impairment in which we used Southern blotting methods to detect the fragile X mutation, augm
Publikováno v:
American journal of medical genetics. Part AREFERENCES. (1)
Maternal uniparental disomy for chromosome 14 causes a recognizable phenotype that has a number of consistent features, irrespective of the underlying chromosome abnormality. To illustrate this, we describe a patient with a 46,XX karyotype whose shor
Publikováno v:
Human genetics. 105(3)
Silver-Russell syndrome (SRS) has been associated with maternal uniparental disomy (UPD) of chromosome 7 in approximately 10% of cases, suggesting that at least one imprinted gene on chromosome 7 is involved in the pathogenesis of the disease. We rep
Autor:
D M, Eccles, R, van der Luijt, C, Breukel, H, Bullman, D, Bunyan, A, Fisher, J, Barber, C, du Boulay, J, Primrose, J, Burn, R, Fodde
Publikováno v:
American journal of human genetics. 59(6)
Desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal. Here, we report hereditary desmoid disease (HDD), a novel autosomal dominant trait with 100% penetrance affecting a three-generation kindred. Desmoid tumors
Autor:
G. Atfield, J. Hurst, Alain Townsend, J. Ferluga, Richard A. Flavell, L. Leben, Hilliard Festenstein, M. Santamaria, Andrew L. Mellor, L. Golden, Walter Schmidt, P. M. Taylor, Elizabeth M. Simpson, E. H. Weiss, H. Bullman, R. James
Publikováno v:
Nature. 298:529-534
Cosmids containing H-2 histocompatibility antigen genes of the H-2b haplotype have been isolated. One of these genes expresses a 45,000 molecular weight protein, indistinguishable from H-2Kb when introduced into mouse L cells. These H-2Kb transformed
Publikováno v:
British Journal of Cancer
Carcinoembryonic antigen-like substances in the urine of patients with bladder carcinoma and of healthy male subjects occur in a wide range of average molecular sizes. Some of these substances are glycoproteins giving reactions of antigenic identity
Publikováno v:
Biochemical Journal. 139:431-440
Urines of several patients with urothelial carcinomas contain inhibitors of the immunoreaction between carcinoembryonic antigen derived from human colorectal carcinomas and monospecific goat antiserum raised against the antigen. These inhibitors rang