Search Results - "DOCHERTY, Z"

Is telomere length in peripheral blood lymphocytes correlated with cancer susceptibility or radiosensitivity? by BARWELL, J, PANGON, L, KATO, B. S, CARTER, N, PAXIMADAS, D, SPECTOR, T. D, HODGSON, S, GEORGIOU, A, DOCHERTY, Z, KESTERTON, I, BALL, J, CAMPLEJOHN, R, BERG, J, AVIV, A, GARDNER, J

“…Mean terminal restriction fragment (TRF) lengths in white blood cells (WBCs) have been previously found to be associated with breast cancer. To assess whether…”
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Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics by Barwell, J, Pangon, L, Hodgson, S, Georgiou, A, Kesterton, I, Slade, T, Taylor, M, Payne, S J, Brinkman, H, Smythe, J, Sebire, N J, Solomon, E, Docherty, Z, Camplejohn, R, Homfray, T, Morris, J R

“…Background: Reports of differential mutagen sensitivity conferred by a defect in the mismatch repair (MMR) pathway are inconsistent in their conclusions…”
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Deletion 9p and sex reversal by Bennett, C P, Docherty, Z, Robb, S A, Ramani, P, Hawkins, J R, Grant, D

“…We report a case of a female infant with a de novo deletion of the short arm of chromosome 9, sex reversal, and an apparently intact SRY gene. Sex reversal has…”
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Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach by Hanson, H, Mathew, C G, Docherty, Z, Mackie Ogilvie, C

“…Analysis of telomere status in patients with Fanconi anaemia (FA) has previously been carried out by measurement of telomere restriction fragment (TRF) length…”
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Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation by BEHJATI, F, MULLARKEY, M, BERGBAUM, A, BERRY, A. C, DOCHERTY, Z

“…We report seven new patients with clinical features of the Smith-Magenis syndrome (SMS) and small de novo interstitial deletions of 17p11.2. Four of these…”
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Self-incompatibility in Nemesia by Docherty, Z

“…Self-Incompatibility tests in five species and three interspecific hybrids showed three of these species and one hybrid to be self-incompatible. Each species…”
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Strategies for the rapid prenatal diagnosis of chromosome aneuploidy by MANN, Kathy, DONAGHUE, Celia, FOX, Susan P, DOCHERTY, Zoe, OGILVIE, Caroline Mackie

“…Rapid diagnosis of common chromosome aneuploidies in raised risk pregnancies, usually prior to full karyotype analysis, is now carried out in a number of…”
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A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p

“…Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and…”
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Abnormal chromosome complement after normal amniocentesis result by Berry, A C, Docherty, Z, Bobrow, M

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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis by Mann, Kathy, Fox, Susan P, Abbs, Stephen J, Yau, Shu Ching, Scriven, Paul N, Docherty, Zoe, Ogilvie, Caroline Mackie

“…Prenatal diagnosis for chromosome abnormality is routinely undertaken by full karyotype analysis of chromosomes from cultured cells; pregnant women must wait…”
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Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment by Barnicoat, A J, Bonneau, J L, Boyd, E, Docherty, Z, Fennell, S J, Huret, J L, King, M, Maltby, E L, McManus, S, Pilz, D T, Shafei-Benaissa, E, Super, M, Tolmie, J

“…We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal…”
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X-linked lymphoproliferative disease: a karyotype analysis by Harris, A, Docherty, Z

“…X-linked lymphoproliferative disease (XLP) is triggered by Epstein-Barr virus. This virus is also associated with Burkitt lymphoma, a tumor that carries…”
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Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis by Donaghue, Celia, Mann, Kathy, Docherty, Zoe, Mackie Ogilvie, Caroline

“…Objectives QF‐PCR can be used to rapidly diagnose primary trisomy in prenatal samples. Our objectives were to estimate the prevalence of primary trisomy…”
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Prenatal diagnosis of chromosome abnormalities: a comparison of the results of various techniques, with special emphasis on mosaicism by MURER-ORLANDO, M, ZAHED, L, DOCHERTY, Z

“…Prenatal diagnosis of chromosome abnormalities can be performed on three different samples; chorion villi (CVS), amniotic fluid (AFS) and fetal blood (FBS). We…”
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Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes by Crolla, J A, Smith, M, Docherty, Z

“…A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ…”
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Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR) by Ogilvie, Caroline Mackie, Donaghue, Celia, Fox, Susan P, Docherty, Zoe, Mann, Kathy

“…Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal…”
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Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping by Stojilkovic-Mikic, Taita, Mann, Kathy, Docherty, Zoe, Mackie Ogilvie, Caroline

“…Objectives To establish the genotype of cultured cells from a cohort of amniotic fluid and chorionic villus samples, and compare this genotype with that…”
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Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q by International Molecular Genetic Study of Autism Consortium

“…Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the…”
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A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome by Seller, M J, Pal, K, Docherty, Z, Nash, T G

“…A fetus with multiple abnormalities phenotypically similar to hydrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial…”
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Extra euchromatic band in the qh region of chromosome 9 by Docherty, Z, Hultén, M A

“…Chromosome 9 variants with a small extra G band located within a large heterochromatic region in the long arm were first described by Madan, the extra band…”
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