Found: 60
Select item for more details and to access through your institution.
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 178, doi. 10.1007/s00439-003-0958-9
- By:
- Publication type:
- Article
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 18, p. 2330, doi. 10.3390/cells12182330
- By:
- Publication type:
- Article
Ubiquitin-Proteasome-Collagen (CUP) Pathway in Preterm Premature Rupture of Fetal Membranes.
- Published in:
- Frontiers in Pharmacology, 2017, p. 1, doi. 10.3389/fphar.2017.00310
- By:
- Publication type:
- Article
Human chromatid ultrastructure: New observations with scanning and transmission electron microscopy.
- Published in:
- Scanning, 2002, v. 24, n. 2, p. 55, doi. 10.1002/sca.4950240201
- By:
- Publication type:
- Article
Alcohol and L‐3‐hydroxyacyl‐CoA dehydrogenases activities of human Aβ‐binding alcohol dehydrogenase and type 10 17β‐hydroxysteroid dehydrogenase.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R5258
- By:
- Publication type:
- Article
Infantile Neurodegeneration results from Mutants of 17β‐Hydroxysteroid Dehydrogenase Type 10 rather than Aβ‐Binding Alcohol Dehydrogenase.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R3674
- By:
- Publication type:
- Article
Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects.
- Published in:
- Journal of Neuroinflammation, 2012, v. 9, n. 1, p. 223, doi. 10.1186/1742-2094-9-223
- By:
- Publication type:
- Article
IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
- Published in:
- Nature, 2003, v. 423, n. 6937, p. 293, doi. 10.1038/nature01629
- By:
- Publication type:
- Article
ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 3, p. 960, doi. 10.1007/s10803-018-3796-2
- By:
- Publication type:
- Article
A Large Scale Study of the Psychometric Characteristics of the IBR Modified Overt Aggression Scale: Findings and Evidence for Increased Self-Destructive Behaviors in Adult Females with Autism Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2010, v. 40, n. 5, p. 599, doi. 10.1007/s10803-009-0908-z
- By:
- Publication type:
- Article
The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2‐q13).
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 10, p. 1316, doi. 10.1002/aur.2003
- By:
- Publication type:
- Article
Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 5, p. 707, doi. 10.1002/aur.1934
- By:
- Publication type:
- Article
Regulation of α-synuclein expression in down syndrome.
- Published in:
- Journal of Neuroscience Research, 2012, v. 90, n. 8, p. 1589, doi. 10.1002/jnr.23049
- By:
- Publication type:
- Article
Noncomprehension Signaling in Males and Females With Fragile X Syndrome.
- Published in:
- Journal of Speech, Language & Hearing Research, 2017, v. 60, n. 6, p. 1606, doi. 10.1044/2016_JSLHR-L-15-0358
- By:
- Publication type:
- Article
Effects of Sampling Context on Spontaneous Expressive Language in Males With Fragile X Syndrome or Down Syndrome.
- Published in:
- Journal of Speech, Language & Hearing Research, 2012, v. 55, n. 4, p. 1022, doi. 10.1044/1092-4388(2011/11-0075)
- By:
- Publication type:
- Article
Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis.
- Published in:
- BMC Genomics, 2007, v. 8, p. 167, doi. 10.1186/1471-2164-8-167
- By:
- Publication type:
- Article
Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 10, p. 925, doi. 10.1002/pd.2815
- By:
- Publication type:
- Article
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 6, p. 755, doi. 10.1007/s00401-010-0655-4
- By:
- Publication type:
- Article
Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0241-z
- By:
- Publication type:
- Article
Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0183-5
- By:
- Publication type:
- Article
Development of a Quantitative FMRP Assay for Mouse Tissue Applications.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1516, doi. 10.3390/genes12101516
- By:
- Publication type:
- Article
DNA Methylation Profiling at Single-Base Resolution Reveals Gestational Folic Acid Supplementation Influences the Epigenome of Mouse Offspring Cerebellum.
- Published in:
- Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00168
- By:
- Publication type:
- Article
Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP).
- Published in:
- Genes, 2016, v. 7, n. 12, p. 121, doi. 10.3390/genes7120121
- By:
- Publication type:
- Article
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
- Published in:
- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 13, p. 1569, doi. 10.1001/jama.1993.03510130075034
- By:
- Publication type:
- Article
Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
- Published in:
- BMC Biochemistry, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2091-14-17
- By:
- Publication type:
- Article
Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns.
- Published in:
- Prenatal Diagnosis, 1994, v. 14, n. 10, p. 933, doi. 10.1002/pd.1970141007
- By:
- Publication type:
- Article
Neuropsychiatric Symptoms of Fragile X Syndrome: Pathophysiology and Pharmacotherapy.
- Published in:
- CNS Drugs, 2004, v. 18, n. 11, p. 687, doi. 10.2165/00023210-200418110-00001
- By:
- Publication type:
- Article
Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9240-2
- By:
- Publication type:
- Article
Increasing Maternal or Post-Weaning Folic Acid Alters Gene Expression and Moderately Changes Behavior in the Offspring.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101674
- By:
- Publication type:
- Article
LncRNA Pathway Involved in Premature Preterm Rupture of Membrane (PPROM): An Epigenomic Approach to Study the Pathogenesis of Reproductive Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079897
- By:
- Publication type:
- Article
The Therapeutic effect of Memantine through the Stimulation of Synapse Formation and Dendritic Spine Maturation in Autism and Fragile X Syndrome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036981
- By:
- Publication type:
- Article
Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0035414
- By:
- Publication type:
- Article
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029729
- By:
- Publication type:
- Article
Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell migration, neurogenesis, synapse formation, and dendritic spine development.
- Published in:
- Brain Structure & Function, 2013, v. 218, n. 3, p. 669, doi. 10.1007/s00429-012-0420-7
- By:
- Publication type:
- Article
Psychotic Manifestations in a Patient with Mental Retardation and a 6.2 Megabase Deletion at the Distal Short Arm of Chromosome 12.
- Published in:
- CNS Spectrums: The International Journal of Neuropsychiatric Medicine, 2008, v. 13, n. 6, p. 515, doi. 10.1017/S1092852900016758
- By:
- Publication type:
- Article
Microarray Analysis Reveals Higher Gestational Folic Acid Alters Expression of Genes in the Cerebellum of Mice Offspring--A Pilot Study.
- Published in:
- Brain Sciences (2076-3425), 2015, v. 5, n. 1, p. 14, doi. 10.3390/brainsci5010014
- By:
- Publication type:
- Article
Inheritance of Mitral Valve Prolapse: Effect of Age and Sex on Gene Expression.
- Published in:
- Annals of Internal Medicine, 1982, v. 97, n. 6, p. 826, doi. 10.7326/0003-4819-97-6-826
- By:
- Publication type:
- Article
Daily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Hypermethylation of the enolase gene (ENO2) in autism.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Epigenetic regulation of lncRNA connects ubiquitin-proteasome system with infection-inflammation in preterm births and preterm premature rupture of membranes.
- Published in:
- BMC Pregnancy & Childbirth, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12884-015-0460-0
- By:
- Publication type:
- Article
Fragile X protein in newborn dried blood spots.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0119-0
- By:
- Publication type:
- Article
Parent-Child Dyadic Gaze Patterns in Fragile X Males and in Non-fragile X Males with Autistic Disorder.
- Published in:
- Journal of Child Psychology, 1989, v. 30, n. 6, p. 845, doi. 10.1111/j.1469-7610.1989.tb00286.x
- By:
- Publication type:
- Article
Lnc RNA-regulated Infection and Inflammation Pathways Associated with Pregnancy Loss: Genome Wide Differential Expression of lnc RNAs in Early Spontaneous Abortion.
- Published in:
- American Journal of Reproductive Immunology, 2014, v. 72, n. 4, p. 359, doi. 10.1111/aji.12275
- By:
- Publication type:
- Article
Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.
- Published in:
- Journal of Genetic Counseling, 1994, v. 3, n. 3, p. 233, doi. 10.1007/BF01412229
- By:
- Publication type:
- Article
NF-κB Signaling in the Brain of Autistic Subjects.
- Published in:
- Mediators of Inflammation, 2011, v. 2011, p. 1, doi. 10.1155/2011/785265
- By:
- Publication type:
- Article
The Fragile X Syndromea.
- Published in:
- Annals of the New York Academy of Sciences, 1986, v. 477, n. 1, p. 129, doi. 10.1111/j.1749-6632.1986.tb40329.x
- By:
- Publication type:
- Article
Molecular Quantitation of Aneuploid Conditions Using Chromosome 21 as a Model.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 450, n. 1, p. 85, doi. 10.1111/j.1749-6632.1985.tb21485.x
- By:
- Publication type:
- Article
Localization of Chromosome 21 Probes by in Situ Hybridization.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 450, n. 1, p. 69, doi. 10.1111/j.1749-6632.1985.tb21484.x
- By:
- Publication type:
- Article
High Gestational Folic Acid Supplementation Alters Expression of Imprinted and Candidate Autism Susceptibility Genes in a sex-Specific Manner in Mouse Offspring.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 2, p. 277, doi. 10.1007/s12031-015-0673-8
- By:
- Publication type:
- Article