A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Autor: L M Moynihan, Andrew P. Jackson, Emma Roberts, G. Karbani, C. Geoffrey Woods, Robert F. Mueller, Ian Lewis, Nicholas Lench, Peter Corry, Gwen Turner

Publikováno v: The American Journal of Human Genetics. 66(2):724-727

Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference/=4 SDs below the expected age-and-sex mean. There is associated moderate mental retardation, and neuroimaging shows a small but s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0447e77d31a34e7cf38d8eadcf577b7a

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

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

Autor: K. A. Brown, Mark J. Houseman, Lihadh Al-Gazali, A. H. Janjua, Gareth Parry, G. Karbani, Nicholas Lench, D.P. McHale, Robert F. Mueller, L M Moynihan, AF Markham, Valerie Newton, David A. Campbell

Publikováno v: Scopus-Elsevier

Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mappi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95b96c2e623d255015abbe07cfb1135c
https://europepmc.org/articles/PMC1051155/

Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci

Autor: K. A. Brown, L M Moynihan, Robert F. Mueller, J.P. Leek, AF Markham, Nicholas Lench

Publikováno v: Annals of human genetics. 60(5)

The abundant and almost exclusive expression of OCP-II protein in the mammalian cochlea has fuelled speculation that mutations in the OCP2 gene may result in inherited forms of hearing impairment. We have identified several human sequences related to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6e23b7fcf248222d143b404bc28679
https://pubmed.ncbi.nlm.nih.gov/8912791