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Full-Text Articles in Diseases
Genotype And Cardiovascular Phenotype Correlations With Tbx1 In 1,022 Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Tingwei Guo, Donna Mcdonald-Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, The International Chromosome 22q11.2 Consortium
Genotype And Cardiovascular Phenotype Correlations With Tbx1 In 1,022 Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Tingwei Guo, Donna Mcdonald-Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, The International Chromosome 22q11.2 Consortium
Communication Disorders Faculty Publications
Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP (single nucleotide polymorphism) number in those with or without a congenital heart defect. One exception …
Identifying And Co-Managing The Hiv-Infected Adult: A Guidebook For Primary Care Clinicians, Jason Leider, Susan F. Lelacheur, Julie G. Stewart Dnp, Mph
Identifying And Co-Managing The Hiv-Infected Adult: A Guidebook For Primary Care Clinicians, Jason Leider, Susan F. Lelacheur, Julie G. Stewart Dnp, Mph
Nursing Faculty Publications
This guidebook was designed to help primary care clinicians improve their performance in terms of HIV identification and co-management. Surmounting barriers to opt-out screening, making an HIV diagnosis, and preventing transmission and opportunistic infections will be discussed, as will selection of initial therapy and considerations for patients receiving antiretroviral therapy (ART).
The Impact Of Infectious Disease On Chronic Disease: A Review Of Contemporary Findings, Wendy Bjerke
The Impact Of Infectious Disease On Chronic Disease: A Review Of Contemporary Findings, Wendy Bjerke
All PTHMS Faculty Publications
Infectious diseases are among the top causes of death in adults and children. Chronic diseases such as cardiovascular disease and cancer are among the top causes of death in adults. Associations between bacterial and viral infectious agents and subsequent development of chronic disease have been made in the past but are currently being reexamined with more rigor and specificity. This review examines infectious disease agent causes and associations with cancer, cardiovascular disease, metabolic disease, and neurodegenerative disease. These associations will impact future research, surveillance, treatment, and prevention of both infectious and chronic diseases.