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Human embryonic stem cell (HESC) lines vary in their characteristics and behaviour not only because they are derived from genetically outbred populations, but also because they may undergo progressive adaptation upon long-term culture in vitro. Such adaptation may reflect selection of variants with altered propensity for survival and retention of an(More)
An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial deletions of the long arm of chromosome 14(More)
OBJECTIVE Early research into Wolf-Hirschhorn syndrome (WHS) described a high mortality and no relationship between deletion size and phenotype. This may need to be revised in the light of improved cytogenetic resolution and medical care. We have collected epidemiological data to allow the calculation of birth incidence and mortality figures. In addition,(More)
Oligodendrogliomas may be divided into those with deletion of chromosomes 1p and 19q (Del+), and those without (Del-). Del+ tumours show better survival and chemoresponsiveness but the reason for this difference is unknown. We have investigated whether these subgroups differ in (a) apoptotic index, (b) the proportion of cells licensed for DNA replication(More)
The clinical features of a family with inherited multiple meningiomas as the major manifestation of neurofibromatosis are presented. The value of noninvasive radiological screening investigations is emphasised. The results of cytogenetic and pathological studies on the family are presented and discussed with a review of the relevant literature.
Prediction of recurrence after resection of benign meningiomas represents a significant clinical problem. A prospective study commenced in 1984 aimed to elucidate the molecular mechanisms involved in the development of abnormal karyotype and tumour recurrence in meningiomas. Expression of key cell cycle regulators p53, p21, mdm2 and proliferating cell(More)
Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis,(More)
Barrett's oesophagus (BO) is an acquired pre-malignant condition in which metaplastic columnar epithelium replaces the normal squamous mucosa as a consequence of chronic gastro-oesophageal reflux. The pre-malignant quality of BO is demonstrated in untreated adults with BO which are at risk of Barrett-associated adenoacarcinoma (BAA). This review addresses(More)
We report a case of a male infant who presented with congenital anomalies and was found to have a de novo deletion in the terminal region of the long arm of chromosome 9. He died at the age of 17 weeks of cardiorespiratory failure owing to RSV positive bronchiolitis. A review of previously published reports documented one previous report of a patient with a(More)
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