Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Andrea Shugar"'
Autor:
Alexandra Finless, Andrea L. Rideout, Ting Xiong, Holly Carbyn, Patricia Lingley-Pottie, Lisa D. Palmer, Andrea Shugar, Donna M. McDonald-McGinn, Patrick J. McGrath, Anne S. Bassett, Cheryl Cytrynbaum, Matt Orr, Ann Swillen, Sandra Meier
Publikováno v:
European Journal of Psychotraumatology, Vol 15, Iss 1 (2024)
Background: 22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenot
Externí odkaz:
https://doaj.org/article/f793a2611d8746a2a5b64438cfcfdccd
Autor:
Simina Bogatan, Andrea Shugar, Syed Wasim, Susan Ball, Cathryn Schmidt, David Chitayat, Cheryl Shuman, Cheryl Cytrynbaum
Publikováno v:
PEC Innovation, Vol 2, Iss , Pp 100115- (2023)
Objective: To develop and evaluate a storytelling communication facilitation tool designed to help parents overcome barriers to discussing a complex multisystem genetic diagnosis with their affected children, using 22q11.2 deletion syndrome (22q11DS)
Externí odkaz:
https://doaj.org/article/0ad68592fa0449d6948797743bdaaa9a
Publikováno v:
The Clinical Teacher. 19:229-234
High-stakes conversations are frequent in Medical Genetics. News shared is often perceived as "bad" and can lead to patient hostility. Breaking bad news (BBN) is therefore a challenging clinical task for physicians and is often included as a foundati
Autor:
Andrea Shugar, Cheryl Shuman
Publikováno v:
Genetic Counseling Practice. :25-51
Autor:
Mohammed Albaghdadi, Maria Berseneva, Alexandra Pennal, Stephanie Wan, Diana Matviychuk, Andrea Shugar, Peter Kannu, Irene Lara‐Corrales
Publikováno v:
Pediatric dermatologyREFERENCES. 39(2)
Café-au-lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the r
Autor:
Robin Z. Hayeems, Stephanie Luca, Wendy J. Ungar, Viji Venkataramanan, Kate Tsiplova, Naazish S. Bashir, Gregory Costain, Cara Inglese, Vanda McNiven, Nada Quercia, Andrea Shugar, Grace Yoon, Cheryl Cytrynbaum, Lucie Dupuis, Zhuo Shao, Stacy Hewson, Cheryl Shuman, Ritu Aul, Eriskay Liston, Riyana Babul-Hirji, Alexandra Bushby, Eleanor Pullenayegum, Lauren Chad, M. Stephen Meyn
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(2)
Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx
Autor:
Irene Lara-Corrales, Mitra Moazzami, Elena Pope, Andrea Shugar, María Teresa García-Romero, Patricia C. Parkin, Peter Kannu
Publikováno v:
Journal of Cutaneous Medicine and Surgery. 21:379-382
Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle
Autor:
Lynne M. Bird, Justin T. Jordan, Laura Dosa, Sébastien Perreault, Punita Gupta, Surya P. Rednam, Nicole J. Ullrich, Donald Basel, Linda M. Randolph, Leah W. Burke, Andrea Shugar, Angela Sharp, Ludwine Messiaen, Carey McDougall, Alicia Gomes, Andrea M. Lewis, Maurice J. Mahoney, Rachel K. Hachen, Marie T. McDonald, Katherine A. Rauen, Colette DeFilippo, Carmelo Piscopo, Maria Cristina Digilio, Sandra Janssens, Mary Ella M Pierpont, Lois J. Starr, Eric Legius, Michael F. Wangler, G. Bradley Schaefer, Arthur S. Aylsworth, Pamela Trapane, Ashraf Syed, Laurence E. Walsh, Alesha D. Hicks, Emily Wakefield, Robert Listernick, Nancy J. Mendelsohn, Elaine H. Zackai, Fortunato Lonardo, Dinel A. Pond, Robert S. Greenwood, Alessandro De Luca, Elizabeth K. Schorry, Rianne Oostenbrink, Katharina Wimmer, Ellen Denayer, Felicity Collins, Peter Kannu, Daryl A. Scott, S. Lane Rutledge, Yolanda Martin, Shelley K. Dills, Amedeo A. Azizi, Kristi J. Jones, David T. Miller, Gary Bellus, Yunjia Chen, Tom Callens, Magdalena Koczkowska, Kathleen Claes, Rick van Minkelen, Mayra Martinez Ojeda, Ashley Cannon, Bruce R. Korf, Cristin Griffis, Maria Blazo, Mari Mori, Veronica Saletti, Elizabeth Siqveland, Concepción Hernández-Chico
Publikováno v:
Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicine
PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2d562e93f2c1ec9bece7f0d68c99ac
https://lirias.kuleuven.be/handle/123456789/627148
https://lirias.kuleuven.be/handle/123456789/627148
Publikováno v:
Molecular Genetics and Metabolism. 132:S208
Autor:
Ludwine Messiaen, Ashley Cannon, Concepción Hernández-Chico, Yolanda Martin, Andrea Shugar, Mary Ella M Pierpont, Robert S. Greenwood, Yunjia Chen, Fortunato Lonardo, Ellen Denayer, Arthur S. Aylsworth, Shelley K. Dills, Mayra Martinez Ojeda, Elizabeth K. Schorry, Amedeo A. Azizi, Lois J. Starr, Andrea M. Lewis, Rianne Oostenbrink, Bruce R. Korf, Pamela Trapane, Peter Kannu, Daryl A. Scott, Elizabeth Siqveland, Rick van Minkelen, Justin T. Jordan, Laura Dosa, Nancy J. Mendelsohn, David T. Miller, Dinel A. Pond, Alessandro De Luca, Elaine H. Zackai, Rachel K. Hachen, Donald Basel, Linda M. Randolph, Eric Legius, Maurice J. Mahoney, Tom Callens, Maria Cristina Digilio, Alesha D. Hicks, Carmelo Piscopo, Sandra Janssens, Katherine A. Rauen, Michael F. Wangler, Ashraf Syed, Emily Wakefield, Punita Gupta, Lynne M. Bird, Alicia Gomes, Marie T. McDonald, Katharina Wimmer, S. Lane Rutledge, Colette DeFilippo, Robert Listernick, Kathleen Claes, Surya P. Rednam, Nicole J. Ullrich, Leah W. Burke, Carey McDougall, Sébastien Perreault, Gary Bellus, Magdalena Koczkowska, Cristin Griffis, Laurence E. Walsh, Angela Sharp, Felicity Collins, Maria Blazo, Kristi J. Jones, Mari Mori, Veronica Saletti, G. Bradley Schaefer
Publikováno v:
Genetics in Medicine, vol 21, iss 3
A correction has been published to this Article. The PDF and HTML have been updated accordingly.