Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Shweta Dhar"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101383- (2024)
Externí odkaz:
https://doaj.org/article/641d522ffff5411ba6964d0552b1c319
Autor:
Tanya Eble, Benjamin Morris, Christopher Lee, Leigh Anne Flore, Natasha Frank, Jane Peredo, Lael Hinds, Robert Pinter, Maren Scheuner, Shweta Dhar
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101404- (2024)
Externí odkaz:
https://doaj.org/article/49d09bfb737348339ee5bf30f02f6771
Publikováno v:
Journal of Kidney Cancer and VHL, Vol 8, Iss 2 (2021)
Lynch syndrome (LS) is an autosomal dominant inherited disorder due to pathogenic variations in the mismatch repair genes, which predisposes to malignancies, most commonly colon and endometrial carcinoma. Muir-Torre syndrome is a subset of LS with cu
Externí odkaz:
https://doaj.org/article/a1d854730ad04a4da849d0886d6180af
Autor:
Jacob Mandel, Ali Jalali, Akash Patel, Malcolm McDonald, Lyndsey Prather, Cassandra Helfer, Xiangjun Gu, Ethan Ludmir, A J Echeverria, Ganesh Rao, Shweta Dhar, Chris Amos
Publikováno v:
Neuro-Oncology. 24:vii109-vii110
BACKGROUND No consensus germline testing guidelines currently exist for glioma patients. Hence such testing is not routinely performed. The prevalence and type of germline pathogenic variants in these brain tumors remains unknown. DESIGN/ METHODS A r
Autor:
Lauren J. Massingham, Sabrina Nuñez, Jonathan A. Bernstein, David P. Gardner, Aditi Shah Parikh, Erin T. Strovel, Fabiola Quintero-Rivera, Hanna Anderson, Myla Ashfaq, Jonathan Bernstein, Leah Burke, Courtney Cross, Shweta Dhar, Kathryn Garber, David Gardner, June-Anne Gold, Alice Hudder, Katherine Hyland, Niels Larsen, Lauren Massingham, Aditi Parikh, Lynette Penney, Alisdair (Rod) Philp, Alice B. Popejoy, Andrew K. Sobering, Lois Starr, Erin Strovel, Helga V. Toriello, Tracey Weiler, Svetlana Yatsenko
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
The field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across
Autor:
Tracey Weiler, Sherin Shaaban, Andrew Sobering, Shweta Dhar, Mary Maj, Cesar Larancuent, Amy Loret, Brady Slater
Publikováno v:
Genetics in Medicine. 24:S275-S276
eP223: Dominant-acting MAP3K20 variants cause split-foot malformation and sensorineural hearing loss
Autor:
Jill Rosenfeld, Amy Shealy, Tanya Eble, Lindsay Burrage, Pengfei Liu, Rocio Moran, Shweta Dhar, Seema Lalani
Publikováno v:
Genetics in Medicine. 24:S138-S139
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities
Autor:
Anu, Bashamboo, Patricia A, Donohoue, Eric, Vilain, Sandra, Rojo, Pierre, Calvel, Sumudu N, Seneviratne, Federica, Buonocore, Hayk, Barseghyan, Nathan, Bingham, Jill A, Rosenfeld, Surya Narayan, Mulukutla, Mahim, Jain, Lindsay, Burrage, Shweta, Dhar, Ashok, Balasubramanyam, Brendan, Lee, Marie-Charlotte, Dumargne, Caroline, Eozenou, Jenifer P, Suntharalingham, Ksh, de Silva, Lin, Lin, Joelle, Bignon-Topalovic, Francis, Poulat, Carlos F, Lagos, Ken, McElreavey, John C, Achermann
Publikováno v:
Human Molecular Genetics
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex devel