Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Lea Velsher"'
Autor:
Nicole J. Gervais, Laura Gravelsins, Alana Brown, Rebekah Reuben, Mateja Perovic, Laurice Karkaby, Gina Nicoll, Kazakao Laird, Shreeyaa Ramana, Marcus Q. Bernardini, Michelle Jacobson, Lea Velsher, William Foulkes, M. Natasha Rajah, Rosanna K. Olsen, Cheryl Grady, Gillian Einstein
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionWomen with early ovarian removal (
Externí odkaz:
https://doaj.org/article/d3d4fda9deee42c6956718079ddc4d6e
Autor:
Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum
Publikováno v:
BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)
Abstract Background The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting
Externí odkaz:
https://doaj.org/article/7ae57346a2ed465d9bdbdfb8577900b2
Autor:
Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Meth
Externí odkaz:
https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a
Autor:
Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum
Publikováno v:
BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1
Publikováno v:
Human Pathology: Case Reports, Vol 6, Iss C, Pp 45-47 (2016)
Lynch syndrome (LS) is an autosomal dominant tumour predisposition syndrome caused by a germline mutation in one of the DNA mismatch repair (MMR) genes.Patients with these mutations have an increased risk of brain tumours, the vast majority of which
Externí odkaz:
https://doaj.org/article/e632ba9a71924b578cad1ecf47192a76
Autor:
Wendy S. Meschino, Tari Little, Kelly A. Metcalfe, Jordan Lerner Ellis, Kathy Chun, Rinku Sutradhar, Andrea Eisen, Nancy N. Baxter, Lea Velsher, Fahima Dossa
Publikováno v:
CMAJ Open
Background: Our understanding of how testing for and mutations of the BRCA1 and BRCA2 genes affect cancer risk and the use of risk-reduction strategies comes largely from studies of women recruited from specialized genetics clinics. Our aim was to as
Autor:
Miralem Mrkonjic, Melyssa Aronson, Lea Velsher, Gulisa Turashvili, Tracy Graham, Roman E. Zyla
Publikováno v:
Genes, Chromosomes and Cancer. 60:635-639
Endometrial carcinoma is one of the prototypical malignancies associated with Lynch syndrome, an inherited cancer syndrome most commonly caused by germline mutations in DNA mismatch repair (MMR) genes, although rare alternative mechanisms also exist.
Autor:
Lea Velsher, Samantha Colaiacovo, Chitra Prasad, Sharan Goobie, Nicole E. Archer, Leanne Mercer
Publikováno v:
Clinical Dysmorphology. 30:104-109
Publikováno v:
Annals of Hematology. 101:907-909
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Autor:
Katherine A. Bosanko, Jennifer L. Fish, Antonio Martinez-Monseny, Amy M. DiMarino, Yuri A. Zarate, Demitrios Dedousis, Anna L. Mitchell, Mir Reza Bekheirnia, Veronica Seidel, David T. Miller, Lea Velsher, Cynthia J. Curry, Aisling R. Caffrey, Mary Ann Thomas, Tyler Mark Pierson, Meena Balasubramanian, Nicole Fleischer, John M. Graham, Angelika Riess, Kristina Cusmano-Ozog, Ronald V. Lacro
Publikováno v:
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been describe