Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)
Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome (2004)
White, S. M., Thompson, E. M., Kidd, A., Savarirayan, R., Turner, A., Amor, D. J., ...
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome (2004)
White, S. M., Thompson, E. M., Kidd, A., Savarirayan, R., Turner, A., Amor, D. J., ...
PEHO and PEHO-like syndromes: Report of five Australian cases (2003)
Field, M. J., Grattan-Smith, P., Piper, S. M., Thompson, E. M., Haan, E. A., Edwards, M., ...
PEHO and PEHO-like syndromes: Report of five Australian cases (2003)
Field, M. J., Grattan-Smith, P., Piper, S. M., Thompson, E. M., Haan, E. A., Edwards, M., ...
Baker, Elizabeth Gay, Hinton, L., Callen, David Frederick, Altree, M., Dobbie, A., Eyre, H. J., ...
© 2001 Wiley-Liss, Inc.
Baker, Elizabeth Gay, Hinton, L., Callen, David Frederick, Altree, M., Dobbie, A., Eyre, H. J., ...
© 2001 Wiley-Liss, Inc.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999)
Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., ...
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver Syndrome (1999)
Savarirayan, R., Thompson, E. M., Abbott, K. J., Moore, M. H.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999)
Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., ...
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999)
Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., ...
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver Syndrome (1999)
Savarirayan, R., Thompson, E. M., Abbott, K. J., Moore, M. H.
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999)
Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., ...
The causes of sporadic and 'senile' chorea (1998)
Warren, J. D., Firgaira, F., Thompson, E. M., Kneebone, C. S., Blumbergs, Peter Charles, Thompson, P. D.
The cause of senile chorea (1998)
Warren, J. D., Thompson, E. M., Figuria, F., Kneebone, C. S., Blumbergs, Peter Charles, Thompson, P. D.
The causes of sporadic and 'senile' chorea (1998)
Warren, J. D., Firgaira, F., Thompson, E. M., Kneebone, C. S., Blumbergs, Peter Charles, Thompson, P. D.
The cause of senile chorea (1998)
Warren, J. D., Thompson, E. M., Figuria, F., Kneebone, C. S., Blumbergs, Peter Charles, Thompson, P. D.
Thompson, E M, Adenot, P, Tsuji, F I, Renard, J P
Study of gene expression kinetics during preimplantation mammalian development is difficult because of the limited amount of material and the usually destructive, static nature of molecular analyses....
Cloning and expression of cDNA for the luciferase from the marine ostracod Vargula hilgendorfii.
Thompson, E M, Nagata, S, Tsuji, F I
The marine ostracod Vargula hilgendorfii ejects luciferin and luciferase into seawater to produce a bright luminous cloud. The light is due to the oxidation of luciferin, an imidazopyrazine compound,...
Thompson, E M, Christians, E, Stinnakre, M G, Renard, J P
Eukaryotic interphase chromatin is thought to be organized into topologically discrete, independent domains acting as units upon which differential patterns of gene expression are established....
Quantitation in inflammatory bowel disease using computerised interactive image analysis.
Thompson, E M, Price, A B, Altman, D G, Sowter, C, Slavin, G
Objective measurements of various histological features in rectal biopsy material were made using computerised interactive image analysis. Analysis of the resulting data by forward stepwise...
Chemotherapy of chemically-induced colorectal tumours.
Gilbert, J M, Thompson, E M, Slavin, G, Kark, A E
Benign and malignant tumours were induced in the large bowel of rats by the carcinogen 1,2-dimethylhydrazine (DMH). Benign tumours appeared from week 20 onwards and malignant tumours from week 30....
Thompson, E M, Adenot, P, Tsuji, F I, Renard, J P
Study of gene expression kinetics during preimplantation mammalian development is difficult because of the limited amount of material and the usually destructive, static nature of molecular analyses....
Cloning and expression of cDNA for the luciferase from the marine ostracod Vargula hilgendorfii.
Thompson, E M, Nagata, S, Tsuji, F I
The marine ostracod Vargula hilgendorfii ejects luciferin and luciferase into seawater to produce a bright luminous cloud. The light is due to the oxidation of luciferin, an imidazopyrazine compound,...
Thompson, E M, Christians, E, Stinnakre, M G, Renard, J P
Eukaryotic interphase chromatin is thought to be organized into topologically discrete, independent domains acting as units upon which differential patterns of gene expression are established....
Quantitation in inflammatory bowel disease using computerised interactive image analysis.
Thompson, E M, Price, A B, Altman, D G, Sowter, C, Slavin, G
Objective measurements of various histological features in rectal biopsy material were made using computerised interactive image analysis. Analysis of the resulting data by forward stepwise...
Chemotherapy of chemically-induced colorectal tumours.
Gilbert, J M, Thompson, E M, Slavin, G, Kark, A E
Benign and malignant tumours were induced in the large bowel of rats by the carcinogen 1,2-dimethylhydrazine (DMH). Benign tumours appeared from week 20 onwards and malignant tumours from week 30....
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
Feldman, G J, Robin, N H, Brueton, L A, Robertson, E, Thompson, E M, Siegel-Bartelt, J, ...
Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth,...
Thompson, E M, Price, Y E, Wright, N A
Evidence for a common endodermal stem cell has been derived from kinetic studies in mouse small intestine which indicate that the turnover characteristics of endocrine cells are similar to those of...
Tam, F. W., Smith, J., Cashman, S. J., Wang, Y., Thompson, E. M., Rees, A. J.
Interleukin-1 (IL-1) is a powerful proinflammatory cytokine whose function is modulated by a natural IL-1 receptor antagonist (IL-1ra). There are few data about kinetics of in vivo synthesis of...
A sebaceous cyst with a difference: Dermatobia hominis
Harbin, L J, Khan, M, Thompson, E M, Goldin, R D
Dermatobia hominis causes furuncular myiasis and is endemic to South America. This report describes a case in a young woman who had recently visited Belize, highlighting the importance of clinical...
FcγRIIa polymorphism in systemic lupus erythematosus (SLE): no association with disease
BOTTO, M, THEODORIDIS, E, THOMPSON, E M, BEYNON, H L C, BRIGGS, D, ISENBERG, D A, ...
An allotypic variant of FcγRIIa, FcγRIIa-HR (FcγRIIa-R131), has been shown in vitroto reduce the capacity of phagocytic cells to bind and internalize IgG-containing immune complexes. Our aim was...
X linked mental retardation: a family with a separate syndrome?
Thompson, E M, Gordon, A, Baraitser, M
Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the...
Temple, I K, Thompson, E M, Hall, C M, Bridgeman, G, Pembrey, M E
A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the...
Parietal foramina in Saethre-Chotzen syndrome
Thompson, E M, Baraitser, M, Hayward, R D
A father and son with Saethre-Chotzen syndrome and parietal foramina are described, to draw attention to this little known feature of the syndrome.
A male infant with the Catel-Manzke syndrome and dislocatable knees.
Thompson, E M, Winter, R M, Williams, M J
A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In...
A girl with the Weaver syndrome.
Thompson, E M, Hill, S, Leonard, J V, Pembrey, M E
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a...
Osteogenesis imperfecta type IIA: evidence for dominant inheritance.
Young, I D, Thompson, E M, Hall, C M, Pembrey, M E
Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents,...
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson, E M, Young, I D, Hall, C M, Pembrey, M E
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. A total of 105 cases...
Multiple pterygium syndrome: evolution of the phenotype.
Thompson, E M, Donnai, D, Baraitser, M, Hall, C M, Pembrey, M E, Fixsen, J
The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid...
Sorsby syndrome: a report on further generations of the original family.
Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members...
Another family with the 'Habsburg jaw'.
We report a three generation family with similar facial characteristics to those of the Royal Habsburgs, including mandibular prognathism, thickened lower lip, prominent, often misshapen nose, flat...
Amniotic bands in connective tissue disorders.
Young, I D, Lindenbaum, R H, Thompson, E M, Pembrey, M E
Amniotic bands are described in two children with Ehlers-Danlos syndrome type IV and in one with severe osteogenesis imperfecta. Since the basic defect in both of these disorders rests in collagen,...
Thompson, E. M., Mathews, H. M., McAuley, D. M.
In-patient admission represents a failure of a day care service. The hospital records of 105 patients transferred from the day ward to the in-patient wards were studied retrospectively. Of 2,039...