OpenURL Connection Search

Select item for more details and to access through your institution.

Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.
Published in:
JAMA: Journal of the American Medical Association, 2004, v. 291, n. 4, p. 460, doi. 10.1001/jama.291.4.460
By:
- Jacquemont, Sébastien;
- Hagerman, Randi J.;
- Leehey, Maureen A.;
- Hall, Deborah A.;
- Levine, Richard A.;
- Brunberg, James A.;
- Zhang, Lin;
- Jardini, Tristan;
- Gane, Louise W.;
- Harris, Susan W.;
- Herman, Kristin;
- Grigsby, James;
- Greco, Claudia M.;
- Berry-Kravis, Elizabeth;
- Tassone, Flora;
- Hagerman, Paul J.
Publication type:
Article
Newborn screening and cascade testing for FMR1 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 59, doi. 10.1002/ajmg.a.35680
By:
- Sorensen, Page L.;
- Gane, Louise W.;
- Yarborough, Mark;
- Hagerman, Randi J.;
- Tassone, Flora
Publication type:
Article
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1221, doi. 10.1002/ajmg.a.35293
By:
- Sorensen, Page L.;
- Basuta, Kirin;
- Mendoza-Morales, Guadalupe;
- Gane, Louise W.;
- Schneider, Andrea;
- Hagerman, Randi;
- Tassone, Flora
Publication type:
Article
Genetic Counseling for Families of Patients With Fragile X Syndrome.
Published in:
2004
By:
- Hagerman, Paul J.;
- Hagerman, Randi J.;
- Gane, Louise W.
Publication type:
Abstract
Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.
Published in:
Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00159
By:
- Napoli, Eleonora;
- Ross-Inta, Catherine;
- Gyu Song;
- Sarah Wong;
- Hagerman, Randi;
- Gane, Louise W.;
- Smilowitz, Jennifer T.;
- Tassone, Flora;
- Giulivi, Cecilia
Publication type:
Article
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
Published in:
Genome Medicine, 2012, v. 4, n. 12, p. 1, doi. 10.1186/gm401
By:
- 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
Publication type:
Article
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
Published in:
2007
By:
- Berry-Kravis, Elizabeth;
- Abrams, Liane;
- Coffey, Sarah M.;
- Hall, Deborah A.;
- Greco, Claudia;
- Gane, Louise W.;
- Grigsby, Jim;
- Bourgeois, James A.;
- Finucane, Brenda;
- Jacquemont, Sebastien;
- Brunberg, James A.;
- Zhang, Lin;
- Lin, Janet;
- Tassone, Flora;
- Hagerman, Paul J.;
- Hagerman, Randi J.;
- Leehey, Maureen A.
Publication type:
journal article

Found: 7

Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.

Newborn screening and cascade testing for FMR1 mutations.

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.

Genetic Counseling for Families of Patients With Fragile X Syndrome.

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

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

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.