Newborn Screening and Cascade Testing for FMR1 Mutations

Por Sorensen, Page L., Gane, Louise W., Yarborough, Mark, Hagerman, Randi, Tassone, Flora
Publicado em 2012

Identification of a male with fragile X syndrome through newborn screening

Por Famula, Jessica, Basuta, Kirin, Gane, Louise W., Hagerman, Randi J., Tassone, Flora
Publicado no Intractable Rare Dis Res (2015)

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Por Tassone, Flora, Hagerman, Randi J., Taylor, Annette K., Gane, Louise W., Godfrey, Tony E., Hagerman, Paul J.
Publicado em 2000

Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome (FXTAS) by utilizing Q-sort methodology

Por Gane, Louise W., Iosif, Ana-Maria, Flynn-Wilson, Linda, Venturino, Marielle, Hagerman, Randi J., Seritan, Andreea L.
Publicado em 2010

A Fragile X Sibship from a Consanguineous Family with a Compound Heterozygous Female and Partially-Methylated Full Mutation Male

Por Sorensen, Page L., Basuta, Kirin, Mendoza-Morales, Guadalupe, Gane, Louise W., Schneider, Andrea, Hagerman, Randi, Tassone, Flora
Publicado em 2012

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding

Por Napoli, Eleonora, Ross-Inta, Catherine, Song, Gyu, Wong, Sarah, Hagerman, Randi, Gane, Louise W., Smilowitz, Jennifer T., Tassone, Flora, Giulivi, Cecilia
Publicado no Front Neurosci (2016)

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening

Por Bailey, Donald B., Wheeler, Anne, Berry-Kravis, Elizabeth, Hagerman, Randi, Tassone, Flora, Powell, Cynthia M., Roche, Myra, Gane, Louise W., Sideris, John
Publicado no Pediatrics (2015)

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

Por Tassone, Flora, Iong, Ka Pou, Tong, Tzu-Han, Lo, Joyce, Gane, Louise W, Berry-Kravis, Elizabeth, Nguyen, Danh, Mu, Lisa Y, Laffin, Jennifer, Bailey, Don B, Hagerman, Randi J
Publicado em 2012

Aging in fragile X syndrome

Por Utari, Agustini, Adams, Evan, Berry-Kravis, Elizabeth, Chavez, Alyssa, Scaggs, Felicia, Ngotran, Lily, Boyd, Antoniya, Hessl, David, Gane, Louise W., Tassone, Flora, Tartaglia, Nicole, Leehey, Maureen A., Hagerman, Randi J.
Publicado em 2010

Neuropathological, Clinical, and Molecular Pathology in Female Fragile X Premutation Carriers with and without FXTAS

Por Tassone, Flora, Greco, Claudia M., Hunsaker, Michael R., Seritan, Andreea L., Berman, Robert F., Gane, Louise W., Jacquemont, Sebastien, Basuta, Kirin, Jin, Lee-Way, Hagerman, Paul J., Hagerman, Randi J.
Publicado em 2012

Fragile X Premutation Disorders – Expanding the Psychiatric Perspective

Por Bourgeois, James, Coffey, Sarah, Rivera, Susan M., Hessl, David, Gane, Louise W., Tassone, Flora, Greco, Claudia, Finucane, Brenda, Nelson, Lawrence, Berry-Kravis, Elizabeth, Grigsby, Jim, Hagerman, Paul J., Hagerman, Randi J.
Publicado em 2009

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Por Hagerman, Randi J, Hall, Deborah A, Coffey, Sarah, Leehey, Maureen, Bourgeois, James, Gould, John, Zhang, Lin, Seritan, Andreea, Berry-Kravis, Elizabeth, Olichney, John, Miller, Joshua W, Fong, Amy L, Carpenter, Randall, Bodine, Cathy, Gane, Louise W, Rainin, Edgar, Hagerman, Hillary, Hagerman, Paul J
Publicado em 2008