A gene for ataxic cerebral palsy maps to chromosome 9p12–q12

Autor: Levene Mi, C.G. Woods, AF Markham, Campbell, Nicholas Lench, Robert F. Mueller, Peter Corry, McHale Dp, Andrew P. Jackson

Publikováno v: European Journal of Human Genetics. 8:267-272

Cerebral palsy (CP) has an incidence of approximately 1 in 750 births, although this varies between ethnic groups. Genetic forms of the disease account for about 2% of cases in most countries, but contribute a larger proportion in certain sub-types o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f53eac50067954efe09cb01a6d0806
https://doi.org/10.1038/sj.ejhg.5200445

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

Autor: Mark J. Houseman, Emma Roberts, A Carridice, Lihadh Al-Gazali, C Muxworthy, L J Pulleyn, Nicholas Lench, AF Markham, Robert F. Mueller, Andrew P. Jackson

Publikováno v: European journal of human genetics : EJHG. 8(12)

Non-syndromic sensorineural deafness is an extremely genetically heterogeneous condition. We have used autozygosity mapping in a large consanguineous United Arab Emirate family to identify a novel locus for autosomal recessive non-syndromic sensorine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7267c91613d2b41a5c42e4512a949f
https://pubmed.ncbi.nlm.nih.gov/11175289

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Autor: Ibtessam Ramzy Hussein, Khaled Abdul Ghaffar, Philip Sloan, A. J. Wood, Melanie Wong, Nalin Thakker, L M Moynihan, Chu Lee Wu, Carmel Toomes, Samia A. Temtamy, Richard P Widmer, MB Pemberton, D. McCormick, Jacqueline James, Emma Roberts, C. Hewitt, Nicholas Lench, Robin M. Davies, Michael J. Dixon, Andrew P. Read, AF Markham, C.G. Woods

Publikováno v: Toomes, C, James, J, Wood, A J, Wu, C L, McCormick, D, Lench, N, Hewitt, C, Moynihan, L, Roberts, E, Woods, C G, Markham, A, Wong, M, Widmer, R, Ghaffar, K A, Pemberton, M, Hussein, I R, Temtamy, S A, Davies, R, Read, A P, Sloan, P, Dixon, M J & Thakker, N S 1999, ' Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis ', Nature Genetics, vol. 23, no. 4, pp. 421-424 . https://doi.org/10.1038/70525

Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. Both the deciduous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8990257b47c6846e8acbf152a3887a4
https://pure.manchester.ac.uk/ws/files/22881266/POST-PEER-REVIEW-PUBLISHERS.PDF

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1

Autor: Lihadh Al-Gazali, Nicholas Lench, L M Moynihan, K. A. Brown, Robert F. Mueller, AF Markham

Publikováno v: Scopus-Elsevier

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. Two types have been defined by the age of manifestation of the symptoms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0284fd2da2142cf87d4912af04dee79
https://europepmc.org/articles/PMC1051035/

The Role of Macrophage Migration Inhibitory Factor in Intestinal Tumorigenesis

Autor: Nigel Scott, Pierre J. Guillou, AF Markham, Mark A. Hull, PL Coletta, J.M. Wilson

Publikováno v: Clinical Science. 104:23P-24P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2b6ae111f8d711110724206fa7b5187
https://doi.org/10.1042/cs104023pb