Monday, 14 November, 2016
Thursday, 13 October, 2016
Thursday, 18 April, 2013
Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia.
Friday, 12 April, 2013
Germline mutations in the cyclin-dependent kinase inhibitor, CDKN1B, have been described in patients with multiple endocrine neoplasia (MEN), a cancer predisposition syndrome with adult onset neoplasia and no additional phenotypes.
Friday, 5 April, 2013
Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis.
Thursday, 28 March, 2013
The avoidance of twin or higher-order multiple pregnancies is in the best interest of families, medical practitioners and health services, given the health hazards and costs associated with higher-order multiples.
Friday, 1 March, 2013
Recent publications have indicated that the risk of fetal loss following amniocentesis or chorionic villus sampling is lower than the figure widely quoted in pretest counseling.
Thursday, 7 February, 2013
Preimplantation genetic diagnosis (PGD) has been carried out for two couples with different mosaic Robertsonian translocations.
Wednesday, 6 February, 2013
Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations.
Monday, 19 November, 2012
Here, we describe a pre-derivation embryo haplotyping strategy that we developed in order to maximize the efficiency and minimize the costs of establishing banks of clinical grade hESC lines in which human leukocyte antigen (HLA) haplotypes match a significant proportion of the population.
Thursday, 25 October, 2012
To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies.
Thursday, 4 October, 2012
Fluorescence in situ hybridisation (FISH) analysis is now widely employed in the diagnosis and risk stratification of a wide range of malignant diseases.
Thursday, 24 May, 2012
Hidradenitis suppurativa (HS; OMIM142690) is a chronic inflammatory skin disease that presents with nodules, cysts, and abscesses in apocrine gland–bearing sites.
Monday, 2 April, 2012
Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies.
Thursday, 1 March, 2012
Since the first report in 1993, an ectopic centromere, i.e. neocentromere formation, has been reported in more than 100 small supernumerary marker chromosomes (sSMC), in 7 instances of centromere repositioning, and in about a dozen cases with more complex chromosomal rearrangements.
Thursday, 9 February, 2012
The emergence of the array comparative genomic hybridization technique (aCGH) is considered an advance in preimplantation genetic testing.
Saturday, 28 January, 2012
The emergence of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated recognition of microdeletions and microduplications as risk factors for both generalised and focal epilepsies.
Thursday, 29 December, 2011
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function.
Thursday, 27 October, 2011
Human embryonic stem (hES) cells hold great potential for cell therapy and regenerative medicine because of their pluripotency and capacity for self-renewal.