Lynsey M Cree

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BACKGROUND Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE To define the phenotype in LGMD2I. METHODS The authors assessed 16 patients from 14 families with FKRP gene mutations and LGMD and collected the results of mutation analysis,(More)
Premature ovarian failure (POF) is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Many genes have been identified over the past few years that contribute to the development of POF. However, few genes have been identified that can explain a substantial(More)
Mitochondrial DNA (mtDNA) mutations are a relatively common cause of progressive disorders that can be severe or even life-threatening. There is currently no cure for these disorders; therefore recent research has been focused on attempting to prevent the transmission of these maternally inherited mutations. Here we highlight the challenges of understanding(More)
BACKGROUND Embryo incubation and assessment is a vital step in assisted reproductive technology (ART). Traditionally, embryo assessment has been achieved by removing embryos from a conventional incubator daily for assessment of quality by an embryologist, under a light microscope. Over recent years time-lapse systems (TLSs) have been developed which can(More)
STUDY QUESTION Are there associations between early time-lapse parameters, expression of candidate embryo viability genes in cumulus cells and embryo quality on Day 5? SUMMARY ANSWER Early time-lapse parameters correlate to the expression levels of candidate embryo viability genes in cumulus cells but a combined analysis including both time-lapse and(More)
Infertility has previously been considered as an inevitable consequence of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. With modern assisted reproductive technology (ART) techniques becoming increasingly accessible, MRKH women have the opportunity for their own genetic offspring. The availability of such technology, however, increases the importance of(More)
Nanoparticle tracking analysis (NTA) is commonly used to count and size nano-sized particles. A sample loading pump can be used to analyse a larger sample volume, but it is unclear whether accuracy is affected. Using a NanoSight NS300 with the manufacturer-supplied pump, we examined synthetic silica and latex microspheres, liposomes and placental(More)
STUDY QUESTION Does maternal ageing and ovarian stimulation alter mitochondrial DNA (mtDNA) copy number and gene expression of oocytes and cumulus cells from a novel bovine model for human IVF? SUMMARY ANSWER Oocytes collected from females with identical nuclear genetics show decreased mtDNA copy number and increased expression of an endoplasmic reticulum(More)
The maternally inherited mitochondrial genome (mtDNA) is present in multimeric form within cells and harbors sequence variants (heteroplasmy). While a single mtDNA variant at high load can cause disease, naturally occurring variants likely persist at low levels across generations of healthy populations. To determine how naturally occurring variants are(More)
OBJECTIVE To characterize nuclear and mitochondrial DNA (mtDNA) in spent culture media from normally developing blastocysts to determine whether it could be used for noninvasive genetic assessment. DESIGN Prospective embryo cohort study. SETTING Academic center and private in vitro fertilization (IVF) clinic. PATIENT(S) Seventy patients undergoing(More)