نتائج البحث - "Genetic diseases"

المصدر: Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
Sekhsaria S, Fleisher TA, Vowells S, Brown M, Miller J, Gordon I, Blaese RM, Dunbar CE, Leitman S, Malech HL. Granulocyte colony-stimulating factor recruitment of CD34+ progenitors to peripheral blood: impaired mobilization in chronic granulomatous disease and adenosine deaminase--deficient severe combined immunodeficiency disease patients. Blood. 1996 Aug 1;88(3):1104-12.
Li F, Linton GF, Sekhsaria S, Whiting-Theobald N, Katkin JP, Gallin JI, Malech HL. CD34+ peripheral blood progenitors as a target for genetic correction of the two flavocytochrome b558 defective forms of chronic granulomatous disease. Blood. 1994 Jul 1;84(1):53-8.
Malech HL, Maples PB, Whiting-Theobald N, Linton GF, Sekhsaria S, Vowells SJ, Li F, Miller JA, DeCarlo E, Holland SM, Leitman SF, Carter CS, Butz RE, Read EJ, Fleisher TA, Schneiderman RD, Van Epps DE, Spratt SK, Maack CA, Rokovich JA, Cohen LK, Gallin JI. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci U S A. 1997 Oct 28;94(22):12133-8. doi: 10.1073/pnas.94.22.12133.

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8

Academic Journal

Preventing acute neurotoxicity of CNS therapeutic oligonucleotides with the addition of Ca2+ and Mg2+ in the formulation.

المؤلفون: Miller, Rachael, Paquette, Joseph, Barker, Alexandra, Sapp, Ellen, McHugh, Nicholas, Bramato, Brianna, Yamada, Nozomi, Alterman, Julia, Echeveria, Dimas, Yamada, Ken, Watts, Jonathan, Anaclet, Christelle, DiFiglia, Marian, Khvorova, Anastasia, Aronin, Neil

المصدر: Molecular Therapy: Nucleic Acids. 35(4)

مصطلحات موضوعية: CNS therapeutics, Huntington’s disease, MT: Oligonucleotides: Therapies and Applications, RNAi, brain delivery, genetic diseases, neurological disorders, oligonucleotide-based therapies, oligonucleotides

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0vd378pw
https://escholarship.org/content/qt0vd378pw/qt0vd378pw.pdf

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9

Academic Journal

Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder

المؤلفون: Ardon, Monica, Nguyen, Lily, Chen, Rui, Rogers, Jeffrey, Stout, Tim, Thomasy, Sara, Moshiri, Ala

المصدر: Investigative Ophthalmology & Visual Science. 65(14)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurosciences, Genetics, 2.1 Biological and endogenous factors, Eye, Animals, Electroretinography, Tomography, Optical Coherence, Macaca mulatta, Cyclic Nucleotide Phosphodiesterases, Type 6, Retinal Cone Photoreceptor Cells, Disease Progression, Male, Female, Color Vision Defects, Disease Models, Animal, Mutation, Missense, Phenotype, Retinal Rod Photoreceptor Cells, Fluorescein Angiography, Homozygote, Cone Dystrophy, genetic diseases, ophthalmology, PDE6C, achromatopsia, photore- ceptors, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67c8w32c
https://escholarship.org/content/qt67c8w32c/qt67c8w32c.pdf

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10

Dissertation/ Thesis

A translational bioinformatics approach to improve genetic diagnostics of hereditary cancer using next-generation sequencing data

المؤلفون: Moreno Cabrera, José Marcos

المساهمون: University/Department: Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut

Thesis Advisors: Gel Moreno, Bernat, Lázaro García, Conxi, Monzó Planella, Mariano

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Oncologia, Oncología, Oncology, Malalties hereditàries, Enfermedades hereditarias, Genetic diseases, Seqüència de nucleòtids, Cadenas de nucleótidos, Nucleotide sequence, Bioinformàtica, Bioinformática, Bioinformatics, Diagnòstic, Diagnóstico, Diagnosis, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/672364

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11

Report

Observational Study of Advanced Data Analytics in Genetic Conditions

المصدر: Observational Study of Advanced Data Analytics in Genetic Conditions

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12

Report

PREcision Diagnostics in Rare GenetIC Diseases and Tumors - Long Read Sequencing (PREDICT-LRS)

المصدر: PREcision Diagnostics in Rare GenetIC Diseases and Tumors - Long Read Sequencing

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13

Report

Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition

المصدر: Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition Across Diverse Patient Populations in Gynecology Practices at Penn Medicine
Srivastava SK, Ahmad A, Miree O, Patel GK, Singh S, Rocconi RP, Singh AP. Racial health disparities in ovarian cancer: not just black and white. J Ovarian Res. 2017 Sep 21;10(1):58. doi: 10.1186/s13048-017-0355-y.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M. Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial. Lancet. 2021 Jun 5;397(10290):2182-2193. doi: 10.1016/S0140-6736(21)00731-5. Epub 2021 May 12.
Reid S, Cadiz S, Pal T. Disparities in Genetic Testing and Care among Black women with Hereditary Breast Cancer. Curr Breast Cancer Rep. 2020 Sep;12(3):125-131. doi: 10.1007/s12609-020-00364-1. Epub 2020 May 19.
Jatoi I, Sung H, Jemal A. The Emergence of the Racial Disparity in U.S. Breast-Cancer Mortality. N Engl J Med. 2022 Jun 23;386(25):2349-2352. doi: 10.1056/NEJMp2200244. Epub 2022 Jun 18. No abstract available.
Domchek SM, Robson ME. Update on Genetic Testing in Gynecologic Cancer. J Clin Oncol. 2019 Sep 20;37(27):2501-2509. doi: 10.1200/JCO.19.00363. Epub 2019 Aug 12. No abstract available.
Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC; Karlan BY, Khan S, Klein C, Kohlmann W; CGC; Kurian AW, Laronga C, Litton JK, Mak JS; LCGC; Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC; Senter-Jamieson L; CGC; Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
Smith-Uffen M, Bartley N, Davies G, Best M. Motivations and barriers to pursue cancer genomic testing: A systematic review. Patient Educ Couns. 2021 Jun;104(6):1325-1334. doi: 10.1016/j.pec.2020.12.024. Epub 2020 Dec 25.
Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ. Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients. J Clin Oncol. 2019 May 20;37(15):1305-1315. doi: 10.1200/JCO.18.01854. Epub 2019 Apr 9.
McBride CM, Pathak S, Johnson CE, Alberg AJ, Bandera EV, Barnholtz-Sloan JS, Bondy ML, Cote ML, Moorman PG, Peres LC, Peters ES, Schwartz AG, Terry PD, Schildkraut JM. Psychosocial factors associated with genetic testing status among African American women with ovarian cancer: Results from the African American Cancer Epidemiology Study. Cancer. 2022 Mar 15;128(6):1252-1259. doi: 10.1002/cncr.34053. Epub 2021 Dec 9.
Hamilton JG, Symecko H, Spielman K, Breen K, Mueller R, Catchings A, Trottier M, Salo-Mullen EE, Shah I, Arutyunova A, Batson M, Gebert R, Pundock S, Schofield E, Offit K, Stadler ZK, Cadoo K, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM. Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer. Genet Med. 2021 Nov;23(11):2105-2113. doi: 10.1038/s41436-021-01262-2. Epub 2021 Jul 13.
Lau-Min KS, Guerra CE, Nathanson KL, Bekelman JE. From Race-Based to Precision Oncology: Leveraging Behavioral Economics and the Electronic Health Record to Advance Health Equity in Cancer Care. JCO Precis Oncol. 2021 Feb 17;5:PO.20.00418. doi: 10.1200/PO.20.00418. eCollection 2021. No abstract available.
Kukafka R, Pan S, Silverman T, Zhang T, Chung WK, Terry MB, Fleck E, Younge RG, Trivedi MS, McGuinness JE, He T, Dimond J, Crew KD. Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2022 Jul 1;5(7):e2222092. doi: 10.1001/jamanetworkopen.2022.22092.

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14

Report

Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells from Maternal Peripheral Blood

المؤلفون: Baylor College of Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

المساهمون: Ronald J Wapner, MD, Vice Chair, Research, OBGYN

المصدر: Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells from Maternal Peripheral Blood

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15

Report

Study of Smith-Lemli-Opitz Syndrome

المصدر: Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome
Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet. 1997 Jan 31;68(3):305-10. doi: 10.1002/(sici)1096-8628(19970131)68:33.0.co;2-x.
Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31;68(3):311-4.
Opitz JM. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. Am J Med Genet. 1994 May 1;50(4):344-6. doi: 10.1002/ajmg.1320500408.
Thurm A, Tierney E, Farmer C, Albert P, Joseph L, Swedo S, Bianconi S, Bukelis I, Wheeler C, Sarphare G, Lanham D, Wassif CA, Porter FD. Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. J Neurodev Disord. 2016 Apr 5;8:12. doi: 10.1186/s11689-016-9145-x. eCollection 2016.

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16

Report

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

المؤلفون: National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health Clinical Center (CC), University of Massachusetts, Worcester

المصدر: Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy

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17

Report

Effects of Treatments on Atopic Dermatitis

المصدر: Effects of Treatments on the Microbiome in Healthy Volunteers and Patients With Atopic Dermatitis

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18

Report

Genetic Studies in the Amish and Mennonites

المصدر: Genetic Studies in the Amish and Mennonites

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19

Report

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

المؤلفون: University of Massachusetts, Worcester, Duke University, Merck Sharp & Dohme LLC

المصدر: An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases
Hashkes PJ, Spalding SJ, Giannini EH, Huang B, Johnson A, Park G, Barron KS, Weisman MH, Pashinian N, Reiff AO, Samuels J, Wright DA, Kastner DL, Lovell DJ. Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. Ann Intern Med. 2012 Oct 16;157(8):533-41. doi: 10.7326/0003-4819-157-8-201210160-00003. Erratum In: Ann Intern Med. 2014 Feb 18;160(4):291-2.
Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol. 2011 Jul 5;7(8):469-78. doi: 10.1038/nrrheum.2011.94.
Bulua AC, Mogul DB, Aksentijevich I, Singh H, He DY, Muenz LR, Ward MM, Yarboro CH, Kastner DL, Siegel RM, Hull KM. Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. Arthritis Rheum. 2012 Mar;64(3):908-13. doi: 10.1002/art.33416.

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20

Report

Screening Protocol for Genetic Diseases of Allergic Inflammation

المصدر: Screening Protocol for Genetic Diseases of Allergic Inflammation

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