Found: 28
Select item for more details and to access through your institution.
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 12, p. 1, doi. 10.1371/journal.pgen.1008414
- By:
- Publication type:
- Article
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1531, doi. 10.1007/s00439-020-02194-8
- By:
- Publication type:
- Article
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001
- By:
- Publication type:
- Article
Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1236
- By:
- Publication type:
- Article
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2985, doi. 10.1002/ajmg.a.38476
- By:
- Publication type:
- Article
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 438, doi. 10.1002/ajmg.a.35796
- By:
- Publication type:
- Article
Altered 5-Hydroxymethylcytosine Landscape in Primary Gastric Adenocarcinoma.
- Published in:
- DNA & Cell Biology, 2019, v. 38, n. 12, p. 1460, doi. 10.1089/dna.2019.4965
- By:
- Publication type:
- Article
Ten-eleven translocation protein 1 modulates medulloblastoma progression.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02352-9
- By:
- Publication type:
- Article
N6-methyladenosine dynamics in neurodevelopment and aging, and its potential role in Alzheimer's disease.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02249-z
- By:
- Publication type:
- Article
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.
- Published in:
- Human Genetics, 2004, v. 114, n. 5, p. 439, doi. 10.1007/s00439-004-1086-x
- By:
- Publication type:
- Article
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00260
- By:
- Publication type:
- Article
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
- Published in:
- Frontiers in Aging Neuroscience, 2023, v. 14, p. 1, doi. 10.3389/fnagi.2022.1073258
- By:
- Publication type:
- Article
The National Down Syndrome Project: Design and Implementation.
- Published in:
- Public Health Reports, 2007, v. 122, n. 1, p. 62, doi. 10.1177/003335490712200109
- By:
- Publication type:
- Article
Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genetic Diversity of the Fragile X Syndrome Gene ( FMR1) in a Large Sub-Saharan West African Population.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 4, p. 316, doi. 10.1111/j.1469-1809.2010.00582.x
- By:
- Publication type:
- Article
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00292
- By:
- Publication type:
- Article
Cell type-specific DNA methylome signatures reveal epigenetic mechanisms for neuronal diversity and neurodevelopmental disorder.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 2, p. 218, doi. 10.1093/hmg/ddac189
- By:
- Publication type:
- Article
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 22, p. 2149, doi. 10.1093/hmg/ddab179
- By:
- Publication type:
- Article
Ten-eleven translocation 2 modulates allergic inflammation by 5-hydroxymethylcytosine remodeling of immunologic pathways.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 21, p. 1985, doi. 10.1093/hmg/ddab167
- By:
- Publication type:
- Article
Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 10, p. 923, doi. 10.1093/hmg/ddab083
- By:
- Publication type:
- Article
Ethnicity-specific and overlapping alterations of brain hydroxymethylome in Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 1, p. 149, doi. 10.1093/hmg/ddz273
- By:
- Publication type:
- Article
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2309, doi. 10.1093/hmg/ddz063
- By:
- Publication type:
- Article
Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 980, doi. 10.1093/hmg/ddy410
- By:
- Publication type:
- Article
The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI).
- Published in:
- Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 1, p. 179, doi. 10.1007/s10815-022-02671-1
- By:
- Publication type:
- Article
Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration.
- Published in:
- Frontiers in Cellular Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fncel.2021.655568
- By:
- Publication type:
- Article
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
- Published in:
- Genetic Epidemiology, 2010, v. 34, n. 6, p. 613, doi. 10.1002/gepi.20518
- By:
- Publication type:
- Article
Olfactory dysfunction in fragile X tremor ataxia syndrome.
- Published in:
- Movement Disorders, 2012, v. 27, n. 12, p. 1556, doi. 10.1002/mds.25043
- By:
- Publication type:
- Article
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.
- Published in:
- Reproductive Biology & Endocrinology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12958-024-01227-5
- By:
- Publication type:
- Article