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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09398-7
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- Publication type:
- Article
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
- Published in:
- 2020
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- Publication type:
- journal article
Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.
- Published in:
- Molecular Autism, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13229-024-00626-0
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- Publication type:
- Article
Feminine Leadership, or How to Succeed in Business Without Being One of the Boys (Book).
- Published in:
- 1986
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- Publication type:
- Book Review
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X‐associated Tremor/Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 810, doi. 10.1002/mdc3.13045
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- Publication type:
- Article
Clinimetric Properties of the Fragile X‐associated Tremor Ataxia Syndrome Rating Scale.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 120, doi. 10.1002/mdc3.12708
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- Publication type:
- Article
The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 3, p. 383, doi. 10.1002/mdc3.12449
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- Publication type:
- Article
BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 2, p. 197, doi. 10.1002/mdc3.12250
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- Publication type:
- Article
Early Detection and Prognostic Assessment of Cutaneous Melanoma: Consensus on Optimal Practice and the Role of Gene Expression Profile Testing.
- Published in:
- JAMA Dermatology, 2023, v. 159, n. 5, p. 545, doi. 10.1001/jamadermatol.2023.0127
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- Publication type:
- Article
Dermoscopy Proficiency Expectations for US Dermatology Resident Physicians: Results of a Modified Delphi Survey of Pigmented Lesion Experts.
- Published in:
- 2021
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- Publication type:
- journal article
Prognostic Gene Expression Profiling in Cutaneous Melanoma: Identifying the Knowledge Gaps and Assessing the Clinical Benefit.
- Published in:
- 2020
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- Publication type:
- journal article
Risk of Subsequent Cutaneous Melanoma in Moderately Dysplastic Nevi Excisionally Biopsied but With Positive Histologic Margins.
- Published in:
- 2018
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- Publication type:
- journal article
A Unique Visual Attention Profile Associated With the FMR1 Premutation.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.591211
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- Publication type:
- Article
Evidence of human immunodeficiency virus type 1 infection of nestin-positive neural progenitors in archival pediatric brain tissue.
- Published in:
- Journal of NeuroVirology, 2007, v. 13, n. 3, p. 274, doi. 10.1080/13550280701344975
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- Publication type:
- Article
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0280-8
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- Publication type:
- Article
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
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- Publication type:
- Article
Clinical challenges in interpreting multiple pathogenic mutations in single patients.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00172-3
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- Publication type:
- Article
Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 10/11, p. 797, doi. 10.1177/08830738221089740
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- Publication type:
- Article
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0314-x
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- Publication type:
- Article
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
- Published in:
- 2015
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- Publication type:
- journal article
Cirrus Cloud Properties and the Large-Scale Meteorological Environment: Relationships Derived from A-Train and NCEP-NCAR Reanalysis Data.
- Published in:
- Journal of Applied Meteorology & Climatology, 2013, v. 52, n. 5, p. 1253, doi. 10.1175/JAMC-D-12-0102.1
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- Publication type:
- Article
Carnitine Levels and the Ketogenic Diet.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 11, p. 1445, doi. 10.1046/j.1528-1157.2001.18001.x
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- Publication type:
- Article
Changes in melanoma care practices during the COVID-19 pandemic: a multi-institutional cross-sectional survey.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Abnormalities on magnetic resonance imaging seen acutely following mild traumatic brain injury: correlation with neuropsychological tests and delayed recovery.
- Published in:
- Neuroradiology, 2004, v. 46, n. 7, p. 550
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- Publication type:
- Article
Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
- Published in:
- Experimental Brain Research, 2023, v. 241, n. 8, p. 1975, doi. 10.1007/s00221-023-06653-2
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- Publication type:
- Article
AN EMPIRICAL ANALYSIS OF NOISE IN PULSED TERAHERTZ SYSTEMS.
- Published in:
- Fluctuation & Noise Letters, 2006, v. 6, n. 1, p. L65, doi. 10.1142/S021947750600315X
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- Publication type:
- Article
EXPERIMENTAL SIGNATURE OF REGISTRATION NOISE IN PULSED TERAHERTZ SYSTEMS.
- Published in:
- Fluctuation & Noise Letters, 2006, v. 6, n. 1, p. L77, doi. 10.1142/S0219477506003161
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- Publication type:
- Article
Guidance and Counseling in the Elementary School: Its Theoretical Base.
- Published in:
- Personnel & Guidance Journal, 1979, v. 57, n. 10, p. 513, doi. 10.1002/j.2164-4918.1979.tb05455.x
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- Publication type:
- Article
Correction to: Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Cerebellum, 2022, v. 21, n. 1, p. 86, doi. 10.1007/s12311-021-01262-7
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- Publication type:
- Article
The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.
- Published in:
- Cerebellum, 2021, v. 20, n. 2, p. 212, doi. 10.1007/s12311-020-01199-3
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- Publication type:
- Article
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 578, doi. 10.1007/s12311-016-0799-4
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- Publication type:
- Article
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 623, doi. 10.1007/s12311-016-0809-6
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- Publication type:
- Article
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Cerebellum, 2016, v. 15, n. 4, p. 475, doi. 10.1007/s12311-015-0714-4
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- Publication type:
- Article
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
- Published in:
- Cerebellum, 2015, v. 14, n. 6, p. 650, doi. 10.1007/s12311-015-0659-7
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- 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
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- Publication type:
- Article
Dermoscopic naevus patterns in people at high versus moderate/low melanoma risk in Queensland.
- Published in:
- Australasian Journal of Dermatology, 2011, v. 52, n. 4, p. 248, doi. 10.1111/j.1440-0960.2011.00798.x
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- Publication type:
- Article
Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36087-3
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- Publication type:
- Article
The association between expressive language skills and adaptive behavior in individuals with Down syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24478-x
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- Publication type:
- Article
Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.727085
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- Publication type:
- Article
The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.718485
- By:
- Publication type:
- Article
PYRUVATE AFFORDS PROTECTION FROM ZINC TOXIC INSULTS IN THE MURINE HT-22 HIPPOCAMPAL NEURONAL CELL LINE.
- Published in:
- British Journal of Pharmacology, 2003, v. 140, p. 56P
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- Publication type:
- Article
Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson’s disease, and essential tremor.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1308698
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- Publication type:
- Article
Validation of MUSES NH3 observations from AIRS and CrIS against aircraft measurements from DISCOVER-AQ and a surface network in the Magic Valley.
- Published in:
- Atmospheric Measurement Techniques, 2024, v. 17, n. 1, p. 15, doi. 10.5194/amt-17-15-2024
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- Publication type:
- Article
Updated consensus guidelines on the management of Phelan–McDermid syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
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- Publication type:
- Article
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1029, doi. 10.1002/ajmg.a.62601
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- Publication type:
- Article
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 858, doi. 10.1002/ajmg.a.62594
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- Publication type:
- Article
Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 503, doi. 10.1002/ajmg.a.61047
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- Publication type:
- Article
Importance of a Specialty Clinic for Individuals with Fragile X Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3144, doi. 10.1002/ajmg.a.37982
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- Publication type:
- Article
Clinicians' Experiences with the Fragile X Clinical and Research Consortium.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3138, doi. 10.1002/ajmg.a.37948
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- Publication type:
- Article