Newborn Screening and Cascade Testing for FMR1 Mutations

af Sorensen, Page L., Gane, Louise W., Yarborough, Mark, Hagerman, Randi, Tassone, Flora
Udgivet 2012

Identification of a male with fragile X syndrome through newborn screening

af Famula, Jessica, Basuta, Kirin, Gane, Louise W., Hagerman, Randi J., Tassone, Flora
Udgivet i Intractable Rare Dis Res (2015)

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

af Tassone, Flora, Hagerman, Randi J., Taylor, Annette K., Gane, Louise W., Godfrey, Tony E., Hagerman, Paul J.
Udgivet 2000

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

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

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

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

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

af Napoli, Eleonora, Ross-Inta, Catherine, Song, Gyu, Wong, Sarah, Hagerman, Randi, Gane, Louise W., Smilowitz, Jennifer T., Tassone, Flora, Giulivi, Cecilia
Udgivet i Front Neurosci (2016)

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

af Bailey, Donald B., Wheeler, Anne, Berry-Kravis, Elizabeth, Hagerman, Randi, Tassone, Flora, Powell, Cynthia M., Roche, Myra, Gane, Louise W., Sideris, John
Udgivet i Pediatrics (2015)

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

af 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
Udgivet 2012

Aging in fragile X syndrome

af 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.
Udgivet 2010

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

af 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.
Udgivet 2012

Fragile X Premutation Disorders – Expanding the Psychiatric Perspective

af 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.
Udgivet 2009

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

af 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
Udgivet 2008