Search Results - "Ward, Alana"

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature by Gunne, Emer, Lambert, Deborah M, Ward, Alana J, Murphy, Daniel N, Treacy, Eileen P, Lynch, Sally Ann

Get full text

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia by Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis

“…Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly…”
Get full text

GP165 Towards estimating the incidence of rare diseases in a paediatric population, born in ireland in the year 2000 by Gunne, Emer, McGarvey, Cliona, Hamilton, Karina, Ward, Alana, Treacy, Eileen, Lambert, Deborah, Lynch, Sally Ann

“…BackgroundAlthough individually rare, (5 per 10,000) and under-recognised in healthcare systems, collectively Rare Diseases (RDs) are common, with 8,000…”
Get full text

OC27 National newborn screening for cystic fibrosis: genetic data from the first 6 years by Sasaki, Erina, Kostocenko, Marija, Lang, Niamhe, Clarke, Tara, Rogers, Melissa, Muldowney, Rebecca, Ward, Alana, Barton, David, Lynch, Sally Ann

“…BackgroundCystic Fibrosis (CF) is the most common life threatening autosomal recessive multisystem disease in the Republic of Ireland (ROI); with a previously…”
Get full text

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey by McVeigh, Terri Patricia, Kelly, Luke J, Whitmore, Elizabeth, Clark, Tara, Mullaney, Brendan, Barton, David E, Ward, Alana, Lynch, Sally Ann

“…Multi-gene testing is useful in genetically heterogeneous conditions, including inherited cardiac pathologies. Increasing the number of genes analysed…”
Get full text

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years by Sasaki, Erina, Kostocenko, Marija, Lang, Niamh, Clark, Tara, Rogers, Melissa, Muldowney, Rebecca, Walsh, Olivia, O'Grady, Loretta, Edge, Gillian, Ward, Alana, Linnane, Barry, Borovickova, Ingrid, Barton, David E, Lynch, Sally Ann

“…Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease in the Republic of Ireland (ROI), with a previously quoted incidence of 1 in…”
Get full text

Developing integrated care in the context of rare chromosomal conditions: 22q11 Deletion Syndrome; A parent/clinician collaboration by Lawlor, Anne, Kerin, Lorna, Orr, David, Leahy, Ronan, Crotty, Fiona, Kelleher, Suzanne, Lynch, Sally Ann, Duggan, Laura, Molloy, Eleanor, Altman, Edel, O'Dwyer, Aisling, Cotter, Christina, Ward, Alana, Mc Nicholas, Fiona

“…Introduction: 22q11.2 Deletion Syndrome is the most common rare chromosomal disorder after Down’s Syndrome with a prevalence rate of between 1 in 2000 and 1 in…”
Get full text

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia by Graham, Colin A., McClean, Elizabeth, Ward, Alana J.M., Beattie, E.Diane, Martin, Sonya, O’Kane, Maurice, Young, Ian S., Nicholls, D.Paul

“…The aim of this study was to develop a mutation screening protocol for familial hypercholesterolaemia (FH) patients and to assess genotype/phenotype effects in…”
Get full text

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria by Todd, D J, Hughes, A E, Ennis, K T, Ward, A J, Burrows, D, Nevin, N C

Get more information

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia by Ward, A J, O'Kane, M, Young, I, Nicholls, D P, Nevin, N C, Graham, C A

Get more information