Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Heather L. Edward"'
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Akademický článek
Changes in JC virus-specific T cell responses during natalizumab treatment and in natalizumab-associated progressive multifocal leukoencephalopathy.
Autor: Molly R Perkins, Caroline Ryschkewitsch, Julia C Liebner, Maria Chiara G Monaco, Danielle Himelfarb, Sara Ireland, Annelys Roque, Heather L Edward, Peter N Jensen, Gina Remington, Thomas Abraham, Jaspreet Abraham, Benjamin Greenberg, Charles Kaufman, Chris LaGanke, Nancy L Monson, Xiaoning Xu, Elliot Frohman, Eugene O Major, Daniel C Douek
Publikováno v: PLoS Pathogens, Vol 8, Iss 11, p e1003014 (2012)
Progressive multifocal leukoencephalopathy (PML) induced by JC virus (JCV) is a risk for natalizumab-treated multiple sclerosis (MS) patients. Here we characterize the JCV-specific T cell responses in healthy donors and natalizumab-treated MS patient
Externí odkaz: https://doaj.org/article/abb0a7896ee7483d9f0110b64979938a
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2
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
Autor: Casie A. Genetti, Inbar Yamin, Meghan C. Towne, Talia S. Schwartz, Pankaj B. Agrawal, Heather L. Edward, Monica H. Wojcik
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood represent a population likely enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation. Methods Thi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243d2522d139d3a01c2d537c4cefa3c
https://doi.org/10.1038/gim.2018.17
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3
A novel missense mutation inTFAP2Bassociated with Char syndrome and central diabetes insipidus
Autor: P. Ellen Grant, Margaret A. Kenna, Alissa M. D'Gama, Joseph A. Majzoub, Catherine A. Brownstein, Pankaj B. Agrawal, Heather L. Edward, Monica H. Wojcik
Publikováno v: American Journal of Medical Genetics Part A.
Char syndrome is characterized by persistent patent ductus arteriosus (PDA) associated with hand-skeletal abnormalities and distinctive facial dysmorphism. Pathogenic variants in the transcription factor gene TFAP2B have been shown to cause Char synd
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dedf2d978f7a3e9bcb241a0728568329
https://doi.org/10.1002/ajmg.a.61150
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5
Expanding the phenotypic spectrum associated with OPHN1 variants
Autor: Ingrid A. Holm, Meghan C. Towne, Talia S. Schwartz, Alan H. Beggs, Jonathan Picker, Renee C. Pelletier, Heather L. Edward, Monica H. Wojcik, Pankaj B. Agrawal
Publikováno v: European journal of medical genetics. 62(2)
Genomic sequencing has allowed for the characterization of new gene-to-disease relationships, as well as the identification of variants in established disease genes in patients who do not fit the classically-described phenotype. This is especially tr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baebe1f57b088529ab988756090f0b40
https://pubmed.ncbi.nlm.nih.gov/29960046
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6
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia
Autor: Zaki A. Naserullah, Jacqueline N. Milton, Ahmed M. Al-Suliman, Duyen A. Ngo, Abdullah M. Al-Rubaish, David H.K. Chui, Lindsay A. Farrer, Shuai Wang, Amein K. Al-Ali, Harold Bae, Paola Sebastiani, Heather L. Edward, Heather Shappell, Clinton T. Baldwin, Martin H. Steinberg, Vinod Vathipadiekal, Abdulrahman Alsultan, Fahad Al-Muhanna, P.K. Patra, John J. Farrell
Publikováno v: Blood Cells, Molecules, and Diseases. 54:224-230
Background : Fetal hemoglobin (HbF) levels in sickle cell anemia patients vary. We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab–Indian (AI) haplotyp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::baceebd04519dd420f69898220abdd5b
https://doi.org/10.1016/j.bcmd.2015.01.001
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7
Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia
Autor: Jorge Chaves-Villalobos, Neil S. Harris, Jonielle Garcia-Quesada, Louis Almero Du Pisani, David H.K. Chui, Heather L. Edward, Walter Rodríguez-Romero, Bernard G. Forget, Martin H. Steinberg, Hong-Yuan Luo
Publikováno v: Hemoglobin. 38:381-384
Hb Youngstown is a rare hemoglobin (Hb) variant caused by substitution of glutamic acid with alanine at amino acid residue 101 of the β-globin chain as a result of an A > C transversion on the β-globin gene nucleotide sequences [β101(G3)Glu → Al
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5964204de6db6f8b521d6239daf835d9
https://doi.org/10.3109/03630269.2014.971960
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The genetics of hemoglobin A2regulation in sickle cell anemia
Autor: Mark T. Gladwin, David H.K. Chui, Paula J. Griffin, Victor R. Gordeuk, Paola Sebastiani, Martin H. Steinberg, Heather L. Edward, Clinton T. Baldwin
Publikováno v: American Journal of Hematology. 89:1019-1023
Hemoglobin A2, a tetramer of α- and δ-globin chains, comprises less than 3% of total hemoglobin in normal adults. In northern Europeans, single nucleotide polymorphisms (SNPs) in the HBS1L-MYB locus on chromosome 6q and the HBB cluster on chromosom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::64522fff872af6969d29555534ac55f4
https://doi.org/10.1002/ajh.23811
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