Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Lesa, Nelson"'
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0117708 (2015)
Adolescent idiopathic scoliosis (AIS) is a clinically significant disorder with high heritability that affects 2-4% of the population. Genome-wide association studies have identified LBX1 as a strong susceptibility locus for AIS in Asian and Caucasia
Externí odkaz:
https://doaj.org/article/b91d121038384554aa155e692176c41e
Autor:
Edward Robert Wassman, Dane Zdunich, Lesa Nelson, Kenneth D. Ward, Rakesh Chettier, Moises A. Serrano
Publikováno v:
Fertility and Sterility. 114:e80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff60842cbd1a73df3e21358ddf43f3a8
https://doi.org/10.1016/j.fertnstert.2020.08.245
https://doi.org/10.1016/j.fertnstert.2020.08.245
Autor:
Kenneth Ward, Karen S. Ho, Charles H. Hensel, Brynn Levy, Sarah T. South, Rena Vanzo, Edward Robert Wassman, Moises A. Serrano, Sean Dixon, Christophe G. Lambert, Lesa Nelson, Patricia Rushton, Andy Peiffer, Megan M. Martin
Publikováno v:
PLoS Currents
Introduction: Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ead23274fe98c4dec6c15393da3acd
https://pubmed.ncbi.nlm.nih.gov/28357155
https://pubmed.ncbi.nlm.nih.gov/28357155
Autor:
Annette Maughan, Kai Wang, Janet Malcolmson, Reid J. Robison, Lesa Nelson, David Tegay, Kenneth D. Ward, Gholson J. Lyon, Robert Kleyner, Glenn Maughan
Publikováno v:
Cold Spring Harbor Molecular Case Studies
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3eef001d125eb36e50bad17db92b6cd
http://europepmc.org/articles/PMC5111005
http://europepmc.org/articles/PMC5111005
Autor:
Rakesh Chettier, Heather Major, Lesa Nelson, M. Sean Esplin, Tracy A. Manuck, Michael W. Varner
Publikováno v:
Obstetrics & Gynecology. 115:765-770
OBJECTIVE: To examine whether women with a personal or family history of preterm birth are more likely to have genetic variation in the human progesterone receptor (hPR). METHODS: Women with a singleton preterm birth at less than 37 weeks of gestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6da693ecc8718c377bf7b48ef1480b22
https://doi.org/10.1097/aog.0b013e3181d53b83
https://doi.org/10.1097/aog.0b013e3181d53b83
Publikováno v:
Placenta. 28:616-619
Objective: Obstetrical complications such as preeclampsia, fetal growth restriction, and placental abruption are associated with inadequate placental perfusion. Previous studies have shown that the angiotensinogen (AGT) Thr235 mutation is associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b345169f9937583e303ba725d533d428
https://doi.org/10.1016/j.placenta.2006.09.011
https://doi.org/10.1016/j.placenta.2006.09.011
Autor:
Maria Erali, Carl T. Wittwer, Rebecca L. Margraf, Elaine Lyon, Sheri Mitchell, Lesa Nelson, Rong Mao, Michael Liew
Publikováno v:
The Journal of Molecular Diagnostics. 8:97-104
High-resolution melting techniques are a simple and cost-effective alternative to other closed-tube genotyping methods. Here, we genotyped human platelet antigens (HPAs) 1 to 6 and 15 by high-resolution melting methods that did not require labeled pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605d465390278f29991fc1b49141ee9f
https://doi.org/10.2353/jmoldx.2006.050053
https://doi.org/10.2353/jmoldx.2006.050053
Autor:
Robert M. Silver, Juhree A. Rice, Lesa Nelson, D. Ware Branch, Amy E. Sullivan, T. Flint Porter
Publikováno v:
American Journal of Reproductive Immunology. 54:1-4
Problem: To determine if there is an association between two commonly inherited thrombophilias, the factor V Leiden and the G20210A prothrombin mutations, and fetal death. Method of study: We used a case–control study design to compare the frequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a743340929a88abc145d7e6eac7b91d
https://doi.org/10.1111/j.1600-0897.2005.00277.x
https://doi.org/10.1111/j.1600-0897.2005.00277.x
Autor:
Stephanie Hallam, Franklin J. Miller, Kenneth Ward, Jamie McDonald, Douglas A. Marchuk, Lesa Nelson
Publikováno v:
American Journal of Medical Genetics. 93:320-327
HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has not been well defined. We report on 51 members of an HHT 2 kindred with an ALK-1 gene mutation shown to be associated with the disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3f0631fd09b653f20a3d8f99356d286
https://doi.org/10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>3.0.co
https://doi.org/10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>3.0.co
Publikováno v:
Spine. 31:679-681
STUDY DESIGN A cohort of 145 patients with adolescent idiopathic scoliosis (AIS) were identified and contacted to determine whether they had a family history of scoliosis. These results were submitted to an internal genealogical database to screen fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3834b1ff5c1d3607555b9f9ffd38f3
https://doi.org/10.1097/01.brs.0000202527.25356.90
https://doi.org/10.1097/01.brs.0000202527.25356.90