A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Autor: Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M. Lambert, Sally Ann Lynch

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

Abstract Aims To ascertain the number of paediatric deaths (0–14 years) with an underlying rare disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in

Externí odkaz: https://doaj.org/article/75d028eba4a3426695796e2d0dd8c376

The role of primary care in management of rare diseases in Ireland

Autor: Rita Marron, Deirdre Ormond, Deborah M. Lambert, Mary C. Burke, Frank Broderick, Fergus Mason, Eileen P. Treacy, Sheila Casey, David Gibney, Jacqueline Turner, Maureen Mason, Marguerite Doyle, Grace O’Sullivan, Niall Byrne, Daniel N. Murphy, Colm O’ Sé, David Molony, Conor O’Shea

Publikováno v: Irish Journal of Medical Science

Background ‘Slaintecare’ aims to address complex patient care needs in an integrated fashion with an emphasis on patient-centred, patient-empowered community care.Currently there is a lack of knowledge of the impact of rare disease management in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64881bbf67e9711e1a35428bcd33781c
https://doi.org/10.1007/s11845-019-02168-4

Catalogue of inherited disorders found among the Irish Traveller population

Autor: Nuala Murphy, Alan D. Irvine, Niall Byrne, F. Browne, Catriona Keenan, Siobhan O’Sullivan, Mary D. King, Melanie Cotter, Andrew Green, Simon Jones, Sean Ennis, Jillian P. Casey, Bronwyn Kerr, Joanne Hughes, Jackie Turner, Ahmad Monavari, Ina Knerr, Deborah M. Lambert, Declan Cody, Vivienne McConnell, Sally Ann Lynch, Ellen Crushell, Kathleen M. Gorman

Publikováno v: Journal of Medical Genetics. 55:233-239

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664054b116eaabfd1fee07a9c4abe19b
https://doi.org/10.1136/jmedgenet-2017-104974

Reply to E. Vicente et al

Autor: Ana Rath, Annie Olry, Yann Le Cam, Deborah M. Lambert, Charlotte Rodwell

Publikováno v: Eur J Hum Genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72daee54884339eed6168019d8e194e6
https://doi.org/10.1038/s41431-020-00764-y

The Global State of the Genetic Counseling Profession

Autor: Marianne Lodahl, Ramona Moldovan, Kunal Sanghavi, Jenna Scott, Deborah M. Lambert, Janice G. Edwards, Anna Middleton, Charlotta Ingvoldstad Malmgren, Ivan Macciocca, Eliza Courtney, Sook-Yee Yoon, Joanne Ngeow, Milena Paneque, Diana Scotcher, Lian-Hua Huang, Hyon J. Kim, Shelley Macaulay, Sahil Kejriwal, Juliana M. H. Lee, Paulina Araceli Lantigua-Cruz, Lamia Alsubaie, Emeline Davoine, Kristine Barlow-Stewart, Kate Gardiner, Christophe Cordier, Beppy Caanen, Åshild Lunde, Tina-Marié Wessels, Sonia Margarit, Yue Guan, Mary Ann R. Abacan, Kelly E. Ormond, Clara Serra Juhé, Alexandra J Obregón-Tito, Catherine Wicklund, Niby J. Elackatt, Shiri Shkedi-Rafid, Karen P. Powell

Publikováno v: Abacan, M, Alsubaie, L, Barlow-stewart, K, Caanen, B, Cordier, C, Courtney, E, Davoine, E, Edwards, J, Elackatt, N J, Gardiner, K, Guan, Y, Huang, L, Malmgren, C I, Kejriwal, S, Kim, H J, Lambert, D, Lantigua-cruz, P A, Lee, J M H, Lodahl, M, Lunde, Å, Macaulay, S, Macciocca, I, Margarit, S, Middleton, A, Moldovan, R, Ngeow, J, Obregon-tito, A J, Ormond, K E, Paneque, M, Powell, K, Sanghavi, K, Scotcher, D, Scott, J, Juhé, C S, Shkedi-rafid, S, Wessels, T, Yoon, S & Wicklund, C 2018, ' The Global State of the Genetic Counseling Profession ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-018-0252-x
Recercat. Dipósit de la Recerca de Catalunya
instname

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee5da386693076b342301e65f343ed
http://hdl.handle.net/10230/37123