Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Kelli Sumner"'
Autor:
Genevieve Pont-Kingdon, Lan-Szu Chou, Kristy Damjanovich, Kelli Sumner, Mark Herrmann, Maria Erali, Elaine Lyon
Publikováno v:
BioTechniques, Vol 42, Iss 2, Pp 193-197 (2007)
Multiplexing genotyping technologies usually require as many probes as genetic variants. Oligonucleotides that span multiple loci—loci spanning probes (LSProbes)—hybridize to two or more noncontiguous DNA sequences present in a template and can b
Externí odkaz:
https://doaj.org/article/71a00d49ad354f13b2b04833af11ecf7
Publikováno v:
Journal of Hand Surgery (European Volume). 43:756-760
Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and clas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b542d21d49d208f848eef1b0a4008a
https://doi.org/10.1177/1753193418770366
https://doi.org/10.1177/1753193418770366
Autor:
Kelli Sumner, Aimee O. Hersh, D. Hunter Best, Mouied Alashari, Ronald W. Day, Parker W. Clement, Susan M. Connors
Publikováno v:
Respiratory Medicine Case Reports
Respiratory Medicine Case Reports, Vol 20, Iss C, Pp 82-86 (2017)
Respiratory Medicine Case Reports, Vol 20, Iss C, Pp 82-86 (2017)
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis are rare forms of pulmonary vascular disease. We report two cases of affected children who had evidence of pulmonary hypertension 3–5 years before developing radiographic find
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab04b77db53e45e546ab196661570685
http://europepmc.org/articles/PMC5219617
http://europepmc.org/articles/PMC5219617
Autor:
Abhishek Gadre, C. Gregory Elliott, Jadyn Carlsen, Timothy M. Fernandes, Kelli Sumner, D. Hunter Best, Meghan M. Cirulis, Mark W. Dodson, Emily L. Wilson, Lynette M. Brown
Publikováno v:
European Respiratory Journal. 56:2000774
Chronic thromboembolic pulmonary hypertension (CTEPH) is a devastating complication that occurs in about 3% of survivors of acute pulmonary embolism (PE) [1]. Genetic risk factors may differentiate patients with acute PE who develop CTEPH from those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1102d97f869d341c46d16283ada57c2
https://doi.org/10.1183/13993003.00774-2020
https://doi.org/10.1183/13993003.00774-2020
Autor:
Ethna Phelan, Paul McNally, D. Hunter Best, Maureen J. O'Sullivan, Kelli Sumner, Colin J. McMahon, Eimear McGovern
Publikováno v:
Cardiology in the Young. 26:663-668
We describe the cases of two children who both presented in infancy with recurrent severe pulmonary hypertensive crises. Exhaustive clinical work-up failed to identify an underlying aetiology. The patients had no clinical response to steroids, immuno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c490596291e6fbdb38a013b5610075f9
https://doi.org/10.1017/s1047951115001006
https://doi.org/10.1017/s1047951115001006
Autor:
Barbara C. Cahill, Pinar Bayrak-Toydemir, Henry D. Tazelaar, Lynette M. Brown, Anna R. Hemnes, Alain C. Borczuk, Rong Mao, Wendy K. Chung, Erika B. Rosenzweig, Ivan M. Robbins, D. Hunter Best, Eric D. Austin, Kelli Sumner, Kevin O. Leslie, C. Gregory Elliott
Publikováno v:
Chest. 145:231-236
Background Pulmonary capillary hemangiomatosis (PCH) is a rare disease of capillary proliferation of unknown cause and with a high mortality. Families with multiple affected individuals with PCH suggest a heritable cause although the genetic etiology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245a905cbf7564efff9466c8afffb37f
https://doi.org/10.1378/chest.13-2366
https://doi.org/10.1378/chest.13-2366
Autor:
Youna Ha, D. Hunter Best, Benjamin P. Smith, Pinar Bayrak-Toydemir, Lynette M. Brown, C. Gregory Elliott, Kristy Damjanovich-Colmenares, Kelli Sumner, Mohamed Jama, Ashley Morris, Mark W. Dodson, Eleri Paul, Ikue Nakayama
Publikováno v:
Chest. 151(4)
Background Differentiating pulmonary venoocclusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) from idiopathic pulmonary arterial hypertension (IPAH) or heritable pulmonary arterial hypertension (HPAH) is important clinically. Mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac9a7262947b9e14e3562876309b760
https://pubmed.ncbi.nlm.nih.gov/27884767
https://pubmed.ncbi.nlm.nih.gov/27884767
Autor:
Daniel H. Farkas, Rong Mao, Shale Dames, D. Hunter Best, Tracey Lewis, Cecily P. Vaughn, Kelli Sumner, Whitney Wooderchak-Donahue
Publikováno v:
Molecular Pathology in Clinical Practice ISBN: 9783319196732
Molecular pathology is based on the principles, techniques, and tools of molecular biology as they are applied to diagnostic medicine in the clinical laboratory. These tools were developed in the research setting and perfected throughout the second h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7fdd57c3d314bc35a326dc5034535a5
https://doi.org/10.1007/978-3-319-19674-9_2
https://doi.org/10.1007/978-3-319-19674-9_2
Publikováno v:
The Journal of Hand Surgery. 42:S26-S27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15ef624072437a7652735fdc47eea94d
https://doi.org/10.1016/j.jhsa.2017.06.057
https://doi.org/10.1016/j.jhsa.2017.06.057
Publikováno v:
G3: Genes|Genomes|Genetics
Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1 domain containing 1 (SPRED1) gene. The phenotype of LS is multiple café au lait macules (CALM) with other commonly repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74081dd7dd551ba1efe195d9948fcaa9
https://doi.org/10.1534/g3.111.000687
https://doi.org/10.1534/g3.111.000687