Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Michele A. Lloyd-Puryear"'
Autor:
Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong, Amy M. Brower
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 50 (2022)
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the form
Externí odkaz:
https://doaj.org/article/4a2711910fe24ca2994caa9ea442b689
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 41 (2022)
Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding
Externí odkaz:
https://doaj.org/article/effae7a4000a43fc8f581638bb840b54
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 87 (2020)
To tackle the ever-increasing ambitions of the International Journal of Neonatal Screening (IJNS), in November 2019, we were looking for an Associate Editor to strengthen the Editorial board of IJNS [...]
Externí odkaz:
https://doaj.org/article/7a25d1aaaee04405aafd13486f0a267c
Autor:
Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 6 (2018)
Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that
Externí odkaz:
https://doaj.org/article/e622a8ba95d740508fd21d424b3f5a5f
Autor:
Heather E, Williams, Lila, Aiyar, Mary Beth, Dinulos, David, Flannery, Michelle L, McClure, Michele A, Lloyd-Puryear, Kunal, Sanghavi, Tracy L, Trotter, David, Viskochil
Publikováno v:
Genetics in Medicine. 24:2211-2219
Autor:
Guisou Zarbalian, Emmanuela E. Ambrose, Mohamed Cherif Rahimy, Hassan Ghazal, Léon Tshilolo, Michael S. Watson, Karim Ouldim, Brigida Santos, Obiageli E Nnodu, Careema Yusuf, Russell E. Ware, Amina Barkat, Michele A. Lloyd-Puryear, Charles Kiyaga, Kwaku Ohene-Frempong, Bradford L. Therrell, Tisungane Mvalo, Carmencita D. Padilla
Publikováno v:
J Community Genet
In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of n
Autor:
Amy Brower, Jeffrey P. Brosco, Susan A. Berry, Michele A. Lloyd-Puryear, Bruce Bowdish, Michael S. Watson
Publikováno v:
Genetics in Medicine. 21:1271-1279
In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for He
Autor:
Ville Laitala, Pauliina Mäkinen, Sari Airenne, David M. Hougaard, Hanna Polari, Michele A. Lloyd-Puryear, Annie Kennedy, Tuukka Pölönen, Anne Timonen, Liisa Meriö, Kristin Skogstrand, Teemu Korpimaki
Publikováno v:
International Journal of Neonatal Screening
Volume 5
Issue 3
International Journal of Neonatal Screening, Vol 5, Iss 3, p 27 (2019)
Volume 5
Issue 3
International Journal of Neonatal Screening, Vol 5, Iss 3, p 27 (2019)
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms
Autor:
Matthew R.G. Taylor, Robert J. Ostrander, Debra Lochner Doyle, Alisha Keehn, Celia Kaye, Joann Bodurtha, Susanna Ginsburg, Mathew J. Edick, Michele A. Lloyd-Puryear, Megan Lyon
Publikováno v:
Genetics in Medicine
Purpose To outline structures for regional genetic services support centers that improve access to clinical genetic services. Methods A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering
Autor:
Megan Lyon, Susanna Ginsburg, Celia Kaye, Joann Bodurtha, Debra Lochner Doyle, Robert J. Ostrander, Mathew J. Edick, Matthew R.G. Taylor, Michele A. Lloyd-Puryear, Alisha Keehn
Publikováno v:
Genetics in Medicine. 22:241