Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Shelley N Fletcher"'
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Akademický článek
The odds and implications of coinheritance of hemophilia A and B
Autor: Corinne Karch, Diane Masser‐Frye, Jacqueline Limjoco, Sarah E. Ryan, Shelley N. Fletcher, Kevin D. Corbett, Jill M. Johnsen, Courtney D. Thornburg
Publikováno v: Research and Practice in Thrombosis and Haemostasis, Vol 4, Iss 5, Pp 931-935 (2020)
Abstract We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features, and genotyping. The case report addresses the key clinical questions of how to m
Externí odkaz: https://doaj.org/article/8ca94d45dc564c2aab4f5b0b981889a2
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2
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States
Autor: Jill M. Johnsen, Shelley N. Fletcher, Angela Dove, Haley McCracken, Beth K. Martin, Martin Kircher, Neil C. Josephson, Jay Shendure, Sarah E. Ruuska, Leonard A. Valentino, Glenn F. Pierce, Crystal Watson, Dunlei Cheng, Michael Recht, Barbara A. Konkle
Publikováno v: Journal of Thrombosis and Haemostasis. 20:2022-2034
Hemophilia A (HA) and hemophilia B (HB) are rare inherited bleeding disorders. Although causative genetic variants are clinically relevant, in 2012 only 20% of US patients had been genotyped.My Life, Our Future (MLOF) was a multisector cross-sectiona
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd83930bf42172f5f590a617c4039729
https://doi.org/10.1111/jth.15805
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3
Akademický článek
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
Autor: Jill M. Johnsen, Shelley N. Fletcher, Haley Huston, Sarah Roberge, Beth K. Martin, Martin Kircher, Neil C. Josephson, Jay Shendure, Sarah Ruuska, Marion A. Koerper, Jaime Morales, Glenn F. Pierce, Diane J. Aschman, Barbara A. Konkle
Publikováno v: Blood Advances, Vol 1, Iss 13, Pp 824-834 (2017)
Abstract: Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was p
Externí odkaz: https://doaj.org/article/5eead2a944f548ea9aa455c5466a5ad6
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6
Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts
Autor: Marsha M. Wheeler, Jill M. Johnsen, Tristan Shaffer, Shelley N Fletcher, Gayle Teramura, Helena J Maki, Jason G. Underwood, Haley Huston, Samantha Harris, Deborah A. Nickerson, Chris D. Frazar, Alexander P. Reiner, James G. Wilson, Kerry W Lannert, Adolfo Correa, Meghan Delaney
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Rh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts such as, sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a61ccb3f17b24f7c9dc98d73efb8311
https://doi.org/10.1038/s41436-018-0074-9
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7
The odds and implications of coinheritance of hemophilia A and B
Autor: Diane Masser-Frye, Sarah E Ryan, Jill M. Johnsen, Kevin D. Corbett, Corinne Karch, Shelley N Fletcher, Courtney D. Thornburg, Jacqueline Limjoco
Publikováno v: Research and practice in thrombosis and haemostasis, vol 4, iss 5
Research and Practice in Thrombosis and Haemostasis, Vol 4, Iss 5, Pp 931-935 (2020)
Research and Practice in Thrombosis and Haemostasis
We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features, and genotyping. The case report addresses the key clinical questions of how to manage pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a391b2a13d06bf8cbea357b42f73d2
https://escholarship.org/uc/item/2xn8q6bj
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8
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
Autor: Barbara A. Konkle, Glenn F. Pierce, Haley Huston, Marion A. Koerper, Martin Kircher, Sarah Ruuska, Jay Shendure, Beth Martin, Sarah Roberge, Shelley N Fletcher, Jill M. Johnsen, Diane J. Aschman, Jaime Morales, Neil C Josephson
Publikováno v: Blood Advances. 1:824-834
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was performed c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95484da74ccae9edad7ee37f7a98820c
https://doi.org/10.1182/bloodadvances.2016002923
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9
A Multi-Omics Approach to X-Chromosome Inactivation (XCI) Identifies Severe Xci Skewing in Female Genetic Carriers of Hemophilia
Autor: Chris D. Frazar, Angela Dove, Jill M. Johnsen, Barbara A. Konkle, Deborah A. Nickerson, Marsha M. Wheeler, Kerry W Lannert, Shelley N Fletcher, Kathryn Sheldon
Publikováno v: Blood. 136:19-20
Background. Hemophilia A and B are rare X-linked bleeding disorders caused by deficiencies in factor VIII (FVIII) and factor IX (FIX) respectively. Males with hemophilia are usually hemizygous for disease-causing genetic variants in the F8 or F9 gene
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6da1a14ff142dd2ed281e417ff94c6df
https://doi.org/10.1182/blood-2020-143066
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10
Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative
Autor: Crystal Watson, Barbara A. Konkle, Michael Recht, Jay Shendure, Neil C. Josephson, Glenn F. Pierce, Angela Dove, Beth Martin, Leonard A. Valentino, Martin Kircher, Sarah Ruuska, Jill M. Johnsen, Haley McCracken, Shelley N Fletcher, Dunlei Cheng
Publikováno v: Blood. 136:19-19
Background Hemophilia A (HA) and hemophilia B (HB) are rare X-linked bleeding disorders. Hemophilia genotype is important to inform reproductive planning, pregnancy, neonatal management, inhibitor risk, disease severity, and understanding of disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2a195672df3c9de23de57cc270791a1b
https://doi.org/10.1182/blood-2020-140649
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