Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Kathryn L, Berrier"'
Autor:
Deeksha S. Bali, Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the
Externí odkaz:
https://doaj.org/article/68affffbf1ab48a4b6d3c7d268c57d59
Autor:
Zoheb B. Kazi, Mugdha Rairikar, Rachel Gandy, Lauren A. Bailey, Kathryn L. Berrier, Priya S. Kishnani, Julie Coats, Laura E. Case, Ankit K. Desai, Rebecca Quinones
Publikováno v:
Molecular Genetics and Metabolism. 122:99-107
Objective Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fad7dc813a97cd0599391c5027abc1b
https://doi.org/10.1016/j.ymgme.2017.09.008
https://doi.org/10.1016/j.ymgme.2017.09.008
Autor:
Tomi L. Toler, Susan Sparks, Jenifer Lavigne, Emily Davidson, Lauren Voelz, Brian G. Skotko, Alison Schwartz, Jordan Lyerly, Al Ozonoff, Priya S. Kishnani, Jose C. Florez, Blythe G. Crissman, Kara Stock-Guild, Angela Lombardo, Kathryn L. Berrier, Nicole Bäumer, Ibrahim Elsharkawi, Christianne Sharr, Sheila Cannon, Mary Ellen McDonough, Kishore Vellody, Campbell Brasington
Publikováno v:
American Journal of Medical Genetics Part A. 173:1539-1545
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d712daf7f56f47d363cc78c90d8e30d5
https://doi.org/10.1002/ajmg.a.38219
https://doi.org/10.1002/ajmg.a.38219
Publikováno v:
Journal of Genetic Counseling. 26:337-354
Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient follo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b1ba7d51036b8c00f8d17b120c39ac
https://doi.org/10.1007/s10897-016-0016-0
https://doi.org/10.1007/s10897-016-0016-0
Autor:
Tomi L. Toler, Kishore Vellody, Christianne Sharr, Blythe G. Crissman, Brian G. Skotko, Alison Schwartz, Priya S. Kishnani, Lauren Voelz, Nicole Bäumer, Emily Davidson, Mary Ellen McDonough, Jenifer Lavigne, Susan Sparks, Kara Stock-Guild, Kathryn L. Berrier, Sheila Cannon, Angela Lombardo, Ibrahim Elsharkawi, Al Ozonoff, Jose C. Florez, Campbell Brasington, Jordan Lyerly
Publikováno v:
American Journal of Medical Genetics Part A. 170:3098-3105
The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd6203204c31806ff3fe0331ec49445
https://doi.org/10.1002/ajmg.a.37879
https://doi.org/10.1002/ajmg.a.37879
Autor:
Kathryn L. Berrier, Zoheb B. Kazi, Jian Dai, Priya S. Kishnani, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac89ab24e5da624e6d5cd0c1ac993eae
Autor:
Jordan Lyerly, Brian G. Skotko, Blythe G. Crissman, Christianne Sharr, Kathryn L. Berrier, Sheila Cannon, Al Ozonoff, Priya S. Kishnani, Emily Davidson, Mary Ellen McDonough, Alison Schwartz, Tomi L. Toler, Kara Stock-Guild, Jenifer Lavigne, Jessica B. McCannon, Jose C. Florez, Nicole Bäumer, Lisa Albers Prock, Kishore Vellody, Susan Sparks, Campbell Brasington, Lauren Voelz, Angela Lombardo
Publikováno v:
American Journal of Medical Genetics Part A. 167:2520-2526
The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba1084b58116d1f31bebb8318bd20bdd
https://doi.org/10.1002/ajmg.a.37267
https://doi.org/10.1002/ajmg.a.37267
Autor:
Kathryn L. Berrier, Punita Gupta, Amy S. Rosenberg, Inbar-Feigenberg M, Raymond Y. Wang, Herskovitz E, Nancy J. Mendelsohn, David Kronn, Priya S. Kishnani, Zoheb B. Kazi, Ward-Melver C, Troxler Rb, Pranoot Tanpaiboon, Polan M, Omar A. Abdul-Rahman, Ankit K. Desai
Publikováno v:
JCI insight, vol 2, iss 16
BACKGROUND Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic imm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2b5d4bafd28e871e4b8797df988c08
https://escholarship.org/uc/item/2ww9w9x5
https://escholarship.org/uc/item/2ww9w9x5
Autor:
Priya S, Kishnani, Zoheb B, Kazi, Kathryn L, Berrier, Stephanie M, Dearmey, Deeksha S, Bali, Amy S, Rosenberg
Publikováno v:
Journal of neuromuscular diseases. 2(s1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9654e687809f78c9bf24763ba721e99c
https://pubmed.ncbi.nlm.nih.gov/27858605
https://pubmed.ncbi.nlm.nih.gov/27858605
A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome
Autor:
Amy R. Reed, Kathryn L. Berrier
Publikováno v:
Journal of genetic counseling. 26(4)
Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects of these factors. In order to better unders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6af9382b2b604766cd8f9944c34ba4
https://pubmed.ncbi.nlm.nih.gov/28035593
https://pubmed.ncbi.nlm.nih.gov/28035593