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Your search keyword '"Black, G.C.M."' showing total 25 results
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25 results on '"Black, G.C.M."'

2. FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

Author

Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., and Black, G.C.M.

Subjects
Chromosome abnormalities -- Research, Chromosome mapping -- Analysis, Fluorescence -- Usage, Human genome -- Research, Biological sciences
Abstract

The study employs the fluorescence in situ hybridization (FISH) mapping technique to analyze the de novo, apparently the balanced chromosome rearrangements (ABCR) for determining the various characteristics that leads to phenotypic abnormality in humans.

Published
2008

4. The ophthalmic findings in Cohen syndrome. (Clinical Science)

Author

Chandler, K.E., Biswas, S., Lloyd, I.C., Parry, N., Clayton-Smith, J., and Black, G.C.M.

Subjects
Chromosome abnormalities -- Research -- Physiological aspects, Health, Physiological aspects, Research
Abstract

Aim: Cohen syndrome is an uncommon autosomal recessive condition comprising a characteristic facial appearance, mental retardation, benign neutropenia, and retinal dystrophy. This study aimed to identify patients with Cohen syndrome [...]

Published
2002

5. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. (Scientific Correspondence)

Author

Irvine, A.D., Coleman, C.M., Moore, J.E., Swensson, O., Morgan, S.J., McCarthy, J.H., Smith, F.J.D., Black, G.C.M., and McLean, W.H.I.

Subjects
Gene mutations -- Physiological aspects -- Genetic aspects, Corneal diseases -- Genetic aspects, Keratin -- Genetic aspects -- Physiological aspects, Health, Physiological aspects, Genetic aspects
Abstract

Background: The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. The mechanisms by which these [...]

Published
2002

6. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

Author

Burgess, R., MacLaren, R.E., Davidson, A.E., Urquhart, J.E., Holder, G.E., Robson, A.G., Moore, A.T., O'Keefe, R., Black, G.C.M., and Manson, F.D.C.

Subjects
Gene mutations -- Research, Retinal degeneration -- Genetic aspects, Retinal degeneration -- Risk factors, Retinal degeneration -- Research, RNA splicing -- Research, Health
Published
2009

8. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (Original Article)

Author

Chandler, K.E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A-E, Black, G.C.M., and Clayton-Smith, J.

Subjects
Genetic disorders -- Research -- Genetic aspects, Eye -- Abnormalities -- Research -- Genetic aspects, Child development deviations -- Genetic aspects -- Research, Face -- Abnormalities -- Genetic aspects -- Research, Medical genetics -- Research, Developmental disabilities -- Genetic aspects -- Research, Health, Research, Genetic aspects, Abnormalities
Abstract

Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed to by the lack [...]

Published
2003

11. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (Short Report)

Author

Elson, E., Perveen, R., Donnai, D., Wall, S., and Black, G.C.M.

Subjects
Gene mutations -- Research -- Genetic aspects, Familial diseases -- Genetic aspects -- Research, Genetic disorders -- Research -- Genetic aspects, Child development deviations -- Identification and classification -- Research -- Genetic aspects, Acrocallosal syndrome -- Research -- Genetic aspects, Syndromes -- Genetic aspects -- Research, Face -- Abnormalities -- Genetic aspects -- Research, Medical genetics -- Research, Skull -- Abnormalities -- Genetic aspects -- Research, Developmental disabilities -- Identification and classification -- Research -- Genetic aspects, Polydactyly -- Genetic aspects -- Research, Mental retardation -- Causes of -- Genetic aspects -- Research, Macrocephaly -- Genetic aspects -- Research, Corpus callosum -- Abnormalities -- Research, Health, Identification and classification, Genetic aspects, Research, Abnormalities, Causes of
Abstract

Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), [...]

Published
2002

16. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. (Scientific Correspondence)

Author

Jamieson, R.V., Munier, F., Balmer, A., Farrar, N., Perveen, R., and Black, G.C.M.

Subjects
Eye diseases -- Research -- Genetic aspects -- Physiological aspects, Cataract -- Research -- Physiological aspects -- Genetic aspects, Health, Physiological aspects, Research, Genetic aspects
Abstract

Aims: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. Methods: Five [...]

Published
2003

18. A novel mutation in IL36 RN underpins childhood pustular dermatosis.

Author

Ellingford, J.M., Black, G.C.M., Clayton, T.H., Judge, M., Griffiths, C.E.M., and Warren, R.B.

Subjects
*SKIN disease treatment, *INTERLEUKINS, *NUCLEOTIDE sequencing, *MISSENSE mutation, *IMMUNE response, *ANTI-inflammatory agents, *INTERLEUKIN receptors
Abstract

Background Chronic pustular dermatoses are severe and debilitating autoinflammatory conditions that can have a monogenic basis. Their clinical features are, however, complex with considerable overlap. Null and missense mutations in the genes encoding interleukin ( IL)-1 family ( IL-1 and IL-36) anti-inflammatory receptor antagonist (Ra) cytokines can underlie the development of severe pustular dermatoses. Objective We present a clinical and genetic study of four children of Pakistani descent with similar clinical presentations and treatment course, each of whom suffers from a severe pustular dermatosis, initially described as a pustular variant of psoriasis. We use DNA sequencing to refine the diagnosis of two of the children studied. Methods Bidirectional Sanger sequencing was performed on the coding regions of the IL-1Ra and IL-36Ra genes ( IL1 RN and IL36 RN, respectively), for the four affected children and their parents. Results We identified a novel homozygous missense mutation in IL36 RN in two siblings, and showed the molecular basis of the condition to be both distinct from psoriasis and distinct between the two families studied. Conclusions We describe a novel mutation which underpins the diagnosis of childhood pustular dermatosis. Molecular diagnostics can be used to aid the clinical diagnosis and potential treatment of autoinflammatory conditions. [ABSTRACT FROM AUTHOR]

Published
2016
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21. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family

Author

Stewart, H.S., Parveen, R., Black, G.C.M., Ridgway, A.E., and Bonshek, R.

Abstract

Aims To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. Methods Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. Results Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in affected individuals. Numerous symptoms experienced by the patients were attributable to this mutation. Conclusion A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. This is the first case of amyloidosis type V described in the UK. This emphasises the importance of recognition of the extraocular manifestations of eye disease both in the diagnosis and management of the patient. In addition, these findings can help molecular geneticists in their search for disease-causing mutations.

Published
2000

22. Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)

Author

Black, G.C.M., Perveen, R., Clayton-Smith, J., Hatchwell, E., and Reck, A.

Abstract

Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or ocular movement. Recombinants in two CFEOM families potentially help to reduce the size of the candidate region on chromosome 12.

Published
1998

24. A mutation in the RIEG1 gene associated with Peters' anomaly

Author

Doward, W., Perveen, R., Wilson, L., Black, G.C.M., Lloyd, I.C., and Ridgway, A.E.A.

Abstract

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3′ splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3′ splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly.

Published
1999

25. Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Author

Jamieson, R.V., Gaunt, L., Donnai, D., Black, G.C.M., Kerr, B., and Stecko, O.

Subjects
CHROMOSOMAL translocation, EYE diseases
Abstract

Studies the chromosomal translocation in a family with ocular anomalies. Results of karyotype analysis; Pedigree and clinical features of the translocation family; Way of assessing a child with a congenital ocular anomaly.

Published
2003
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