Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Mercy Y, Laurino"'
Autor:
Ma-Am Joy R. Tumulak, Carmencita D. Padilla, Jose Carlo E. Ongchangco, Mercy Y. Laurino, John Benedict B. Lagarde, Ellen S. Regalado, Augusto V. Legaspi, Elizabeth R. Ventura
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101847- (2024)
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have a genetic disorder, which ca
Externí odkaz:
https://doaj.org/article/610f35c7f946438e85ac58a5e686daac
Publikováno v:
Blood Advances, Vol 3, Iss 16, Pp 2470-2473 (2019)
Externí odkaz:
https://doaj.org/article/e3508e80d37f47a691c5b2728fb76de2
Autor:
Leniza G. de Castro-Hamoy, Ma-am Joy R. Tumulak, Maria Stephanie Fay S. Cagayan, Peter A. Sy, Nona Rachel C. Mira, Mercy Y. Laurino
Publikováno v:
Journal of Community Genetics. 13:411-425
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38f2feaecc128e5f53eee8a08460164c
https://doi.org/10.1007/s12687-022-00597-w
https://doi.org/10.1007/s12687-022-00597-w
Autor:
Mercy Y. Laurino, Romer J. Guerbo, Angela V Pascua, Graciel Mae R Canoy, Edbert Jasper M Jover, Ma-Am Joy R. Tumulak
Publikováno v:
Journal of Genetic Counseling
The COVID‐19 pandemic poses a significant challenge to healthcare professionals and health systems around the world, most notably the disruption of its service delivery. The typical work setting for most genetic counselors (GCs) is in a clinic or h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3512efedc50c89c55fca31731b43a2e
http://europepmc.org/articles/PMC8657528
http://europepmc.org/articles/PMC8657528
Autor:
Joseph Vijai, Ryan Hausler, Kenneth Offit, Wendy Kohlmann, Wassim Abida, Sophie Hyman, Piper Nicolosi, Heather H. Cheng, Jennie Vagher, Eliezer M. Van Allen, Brian H. Shirts, Maria I. Carlo, Daniel J. Lee, Marianne E Dubard-Gault, Mercy Y. Laurino, Anh D. Le, Eric Q. Konnick, Jacquelyn Powers, Luke Maese, Lauren E. Schwartz, Anne Naumer, Kara N. Maxwell, Lorraine V. Naylor, Bruce Montgomery, Colin C. Pritchard, Joshua D. Schiffman, Casey Morrison, Roman Gulati, Bastien Nguyen, Jill E. Stopfer, Oliver Sartor, Zsofia K. Stadler, Peter S. Nelson, Samantha Greenberg, Judy Garber, Saud H. AlDubayan, Robert L. Nussbaum, Michael Walsh, Diana Mandelker, Michael J. Morris, Elisa Ledet
Publikováno v:
Eur Urol
BACKGROUND: Inherited germline TP53 pathogenic and likely pathogenic mutations (gTP53) cause autosomal dominant multicancer predisposition including Li-Fraumeni syndrome (LFS). However, there is no known association of prostate cancer with gTP53. OBJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a25f5caee2992fd009f0ea66e51f00cd
https://europepmc.org/articles/PMC8891030/
https://europepmc.org/articles/PMC8891030/
Autor:
Sylvia A Metcalfe, Andrew Mallett, Bronwyn Terrill, Ken Knight, Edward S. Tobias, Martina C. Cornel, Gunjan Garg, Debra Graves, Ingrid B. Sinnerbrink, Vajira H. W. Dissanayake, Kristine Barlow-Stewart, Helen Jordan, Kate Dunlop, June C. Carroll, Tina-Marié Wessels, Andrea Belcher, Nicola Mulder, Jane Maguire, Russell Gear, Emma Tonkin, Chirag Patel, Amy Nisselle, Dhavendra Kumar, Steve Trumble, Maria C. McCarthy, Alison McEwen, Kate Reed, Nadia Kaunein, Mercy Y. Laurino, Catherine Quinlan, Belinda J McClaren, Bruce R. Korf, Clara Gaff, Michelle Bishop, Monika Janinski, Anne Slavotinek, Vijayaprakash Suppiah, Melissa Martyn, John A. Bernat, Alan Ma, Erin Rooney Riggs, Agnes E. Dodds, Stephanie Best
Publikováno v:
Genetics in Medicine, 23(7), 1356-1365. Lippincott Williams and Wilkins
Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ' Ensuring best practice in genomics education and evaluation : reporting item standards for education and its evaluation in genomics (RISE2 Genomics) ', Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365 . https://doi.org/10.1038/s41436-021-01140-x
Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ' Ensuring best practice in genomics education and evaluation : reporting item standards for education and its evaluation in genomics (RISE2 Genomics) ', Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365 . https://doi.org/10.1038/s41436-021-01140-x
PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36babd396b3903ce4d8d01c36b6e34b8
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5dae
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5dae
Publikováno v:
Blood Advances. 3:2470-2473
Key Points The patient reported here, along with collective observations in the literature, suggest that ELANE deletion does not cause neutropenia. Potential therapeutic genome editing involving knockout of the mutant ELANE allele is therefore not ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a364cfa51f6366e1de65b5451e662177
https://doi.org/10.1182/bloodadvances.2019000498
https://doi.org/10.1182/bloodadvances.2019000498
Autor:
Kathleen A. Leppig, Travis Hyams, Deborah J. Bowen, Mercy Y. Laurino, Timothy Woolley, Gail P. Jarvik, Stacey A. Cohen
Publikováno v:
J Cancer Educ
INTRODUCTION. Family members of individuals with colorectal cancer (CRC) may be at increased risk of developing the disease. However, the majority of CRC can be prevented through colonoscopy screening and family members may not be aware if they are r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb4f3e701a9f8271a05fe31c0003769
https://doi.org/10.1007/s13187-019-1484-3
https://doi.org/10.1007/s13187-019-1484-3
Autor:
Ellen S. Regalado, Catherine Lynn T. Silao, Mercy Y. Laurino, Carmencita D. Padilla, Romer J. Guerbo, Ernesto R. Gregorio
Publikováno v:
Acta Medica Philippina. 54
Introduction. Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb30e4790b66f3a9245945f91de30fb9
https://doi.org/10.47895/amp.v54i4.1915
https://doi.org/10.47895/amp.v54i4.1915
Autor:
Anna Middleton, Mercy Y. Laurino, Tina-Marié Wessels, Kelly E. Ormond, Shelley Macaulay, Kristine Barlow-Stewart, Jehannine Austin
Publikováno v:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15135013b6887a7027264bb683065d57
https://doi.org/10.1002/ajmg.c.31607
https://doi.org/10.1002/ajmg.c.31607