Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Erin Kovar"'
Autor:
Philip J. Lupo, Megan E. Rech, Linford Williams, Suneeta Madan-Khetarpal, Veeral Shah, Erin Kovar, Gerard T. Berry, Dmitriy Niyazov, Christian P. Schaaf, Daniëlle G. M. Bosch, Charles Shaw-Smith, Jane C. Edmond, Chun-An Chen, John M. McCarthy
Publikováno v:
American Journal of Medical Genetics Part A. 182:1426-1437
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we
Autor:
Kunj R. Sheth, Michael E. Scheurer, Carolina J. Jorgez, Erin C. Peckham-Gregory, Abhishek Seth, Tiffany M. Chambers, Marisol O'Neill, Erin Kovar, Jeffrey T. White, Philip J. Lupo, Peter H. Langlois
Publikováno v:
Birth Defects Research. 111:345-352
BACKGROUND: With the increasing birth prevalence of hypospadias, there is growing concern for pollutant exposure interfering with normal penile development. We assess the association between hypospadias and hormonally active hazardous air pollutants
Autor:
Christian P. Schaaf, Erin Kovar, Daryl A. Scott, John J. McCarthy, Bret L. Bostwick, Yves Lacassie, Joel Charrow, Tony Roscioli, Robert Smiegel, Philip J. Lupo, Megan E. Rech, Katerina Kraft, Edward J. Lose, Samantha A. Schrier Vergano
Publikováno v:
American Journal of Medical Genetics. Part a
Schaaf‐Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader‐Willi critical region 15q11‐15q13. SYS is a ne
Autor:
Erin Kovar, Tiffany M. Chambers, Jeffrey T. White, Peter H. Langlois, Abhishek Seth, Marisol O'Neill, Carolina J. Jorgez, Kunj R. Sheth, Philip J. Lupo, Erin C. Peckham-Gregory
Publikováno v:
International Journal of Environmental Research and Public Health
Volume 16
Issue 6
International Journal of Environmental Research and Public Health, Vol 16, Iss 6, p 930 (2019)
Volume 16
Issue 6
International Journal of Environmental Research and Public Health, Vol 16, Iss 6, p 930 (2019)
Objective: Investigate whether residential prenatal exposure to heavy metal hazardous air pollutants (HMHAPs) is associated with an increased risk of hypospadias. Methods: Data on non-syndromic hypospadias cases (n = 8981) and control patients delive