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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

• Andrew R. Curtis, Constanze Fey, +13 authors John Burn
• Nature Genetics
• 2001

We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or… (More)

Identification of SATB2 as the cleft palate gene on 2q32-q33.

• David Fitzpatrick, Ian M. Carr, +10 authors David T. Bonthron
• Human molecular genetics
• 2003

Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32-q33, for which haploinsufficiency results in isolated cleft palate (CPO). Here… (More)

Isolation and characterization of bone marrow multipotential mesenchymal progenitor cells.

• Elena A Jones, S. E. Kinsey, +7 authors Dennis McGonagle
• Arthritis and rheumatism
• 2002

OBJECTIVE There is an increased interest in rheumatology in mesenchymal progenitor/stem cells (MPCs) and their roles in rheumatic diseases, but little is known about the phenotype of these cells in… (More)

Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

• Frédérique Ponchel, Carmel Toomes, +11 authors Alex F. Markham
• BMC biotechnology
• 2003

BACKGROUND Real-time PCR is increasingly being adopted for RNA quantification and genetic analysis. At present the most popular real-time PCR assay is based on the hybridisation of a dual-labelled… (More)

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2

• Emma J Roberts, Andrew P. Jackson, +8 authors C Geoffrey Woods
• European Journal of Human Genetics
• 1999

Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation… (More)

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other…

• Clare N Lynex, Ian M. Carr, +6 authors Alex F. Markham
• BMC neurology
• 2004

BACKGROUND Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of… (More)

TATA-Binding Protein Saimiri R Protein Interacts with the The Activation Domain of Herpesvirus

• Crystal Gibson, Alex F. Markham, +9 authors Adrian Whitehouse
• 1999

The polymerase chain reaction: a tool for molecular medicine.

• Alex F. Markham
• BMJ
• 1993

Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells.

• Stuart A. Macnab, Susan J. Turrell, Ian M. Carr, Alex F. Markham, P. Coletta, Adrian Whitehouse
• International journal of oncology
• 2011

Colorectal cancer (CRC) is a major cause of cancer-related mortality. A contributing factor to the progression of this disease is sporadic or hereditary mutation of the adenomatous polyposis coli… (More)

Carcinoma of the lung: warts and all.

• Alex F. Markham
• Thorax
• 1996

It is always a salutary experience to be confronted by one's own ignorance. The consequences, however, can often be worthwhile. In my own case, the paper by Soini et al on pp 887-93 of this issue of… (More)

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