Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sarah K. Macklin- Mantia"'
Autor:
Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder, Douglas L. Riegert-Johnson
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable penetrance. Only tw
Externí odkaz:
https://doaj.org/article/16f7ea2cea8d477eb873d00521b62735
Autor:
Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Achalasia‐addisonianism‐alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding
Externí odkaz:
https://doaj.org/article/df4c2837aabc49f0ad116b97a6d2a9ba
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-5 (2020)
Abstract Background Patients with DNA-damage response genes (DDR)-related pancreas cancer (BRCA1/2 or other DNA-damage related genes) may have improved outcomes secondary to increased sensitivity to DNA-damaging drugs (platinum chemotherapy/ poly ADP
Externí odkaz:
https://doaj.org/article/af6640538cb74f839d14303db0dc2ff0
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-3 (2020)
Externí odkaz:
https://doaj.org/article/c5d15ecb22674bf690fe05454487d5e3
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Autor:
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Publikováno v:
The American Journal of Human Genetics.
Autor:
Sarah K. Macklin‐Mantia, Kristin E. Clift, Santo Maimone, David O. Hodge, Douglas Riegert‐Johnson, Stephanie L. Hines
Publikováno v:
Journal of genetic counselingREFERENCES.
Advances have dated the genetic testing initially offered to evaluate for hereditary breast and ovarian cancer risks. Previous research has demonstrated that many patients have not updated testing. This study reviewed the incidence of additional anal
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Autor:
Sienna Aguilar, Ora K. Gordon, Anne Slavotinek, Robert C. Green, Steven Tucker, Jessica Y. J. Gu, Eden Haverfield, Stephanie L. Hines, Steven B. Bleyl, Andrea Hanson-Kahn, Teresa M. Kruisselbrink, Robert L. Nussbaum, Bryce A. Mendelsohn, Edward D. Esplin, Paldeep S. Atwal, Kathryn E. Hatchell, Swaroop Aradhya, Sarah K. Macklin-Mantia, Scott M. Weissman, Michele Kettles, Kelly E. Ormond, Lea Velsher, Peter J. Hulick, Caron W.-M. Sak, Christopher Abel
Publikováno v:
BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)
BMC Medicine
BMC Medicine
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 pathogeni
Autor:
Stephen L Ko, Stephanie L. Hines, Qihui Zhai, Niloy Jewel Samadder, Angela M. Donaldson, Sarah K. Macklin-Mantia, Douglas L. Riegert-Johnson, Kaisorn L. Chaichana
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics
BMC Medical Genetics
Background Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable penetrance. Only twenty- fiv
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-5 (2020)
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-5 (2020)
Background Patients with DNA-damage response genes (DDR)-related pancreas cancer (BRCA1/2 or other DNA-damage related genes) may have improved outcomes secondary to increased sensitivity to DNA-damaging drugs (platinum chemotherapy/ poly ADP ribose p