OpenURL Connection Search

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

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
By:
- Field, Michael;
- Dudding-Byth, Tracy;
- Arpone, Marta;
- Baker, Emma K.;
- Aliaga, Solange M.;
- Rogers, Carolyn;
- Hickerton, Chriselle;
- Francis, David;
- Phelan, Dean G.;
- Palmer, Elizabeth E.;
- Amor, David J.;
- Slater, Howard;
- Bretherton, Lesley;
- Ling, Ling;
- Godler, David E.
Publication type:
Article
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51618-7
By:
- Hensel, Charles H.;
- Vanzo, Rena J.;
- Martin, Megan M.;
- Ling, Ling;
- Aliaga, Solange M.;
- Bui, Minh;
- Francis, David I.;
- Twede, Hope;
- Field, Michael H.;
- Morison, Jonathon W.;
- Amor, David J.;
- Godler, David E.
Publication type:
Article
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Published in:
Clinical Chemistry, 2016, v. 62, n. 2, p. 343, doi. 10.1373/clinchem.2015.244681
By:
- Aliaga, Solange M.;
- Slater, Howard R.;
- Francis, David;
- Du Sart, Desiree;
- Xin Li;
- Amor, David J.;
- Alliende, Angelica M.;
- Maria, Lorena Santa;
- Faundes, Víctor;
- Morales, Paulina;
- Trigo, Cesar;
- Salas, Isabel;
- Curotto, Bianca;
- Godler, David E.
Publication type:
Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Published in:
Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0271-7
By:
- Baker, Emma K.;
- Arpone, Marta;
- Aliaga, Solange M.;
- Bretherton, Lesley;
- Kraan, Claudine M.;
- Bui, Minh;
- Slater, Howard R.;
- Ling, Ling;
- Francis, David;
- Hunter, Matthew F.;
- Elliott, Justine;
- Rogers, Carolyn;
- Field, Michael;
- Cohen, Jonathan;
- Cornish, Kim;
- Santa Maria, Lorena;
- Faundes, Victor;
- Curotto, Bianca;
- Morales, Paulina;
- Trigo, Cesar
Publication type:
Article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Published in:
Genes, 2019, v. 10, n. 4, p. 279, doi. 10.3390/genes10040279
By:
- Pandelache, Alison;
- Baker, Emma K;
- Aliaga, Solange M.;
- Arpone, Marta;
- Forbes, Robin;
- Stark, Zornitza;
- Francis, David;
- Godler, David E.
Publication type:
Article

Found: 5

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.