Works matching DE "DIAGNOSIS of fragile X syndrome"
Results: 89
A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells.
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- Journal of Cell Biology, 2017, v. 216, n. 3, p. 595, doi. 10.1083/jcb.201607093
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- Article
Psychiatric-legal aspects in the oncological pathology.
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- Oncolog-Hematolog, 2018, n. 43, p. 31
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- Article
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.
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- Genes, 2016, v. 7, n. 10, p. 90, doi. 10.3390/genes7100090
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- Article
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.
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- Genes, 2016, v. 7, n. 10, p. 87, doi. 10.3390/genes7100087
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- Article
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
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- Genes, 2016, v. 7, n. 9, p. 68, doi. 10.3390/genes7090068
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- Article
Towards a Better Molecular Diagnosis of FMR1-Related Disorders--A Multiyear Experience from a Reference Lab.
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- Genes, 2016, v. 7, n. 9, p. 59, doi. 10.3390/genes7090059
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- Article
Fragile X-associated tremor ataxia syndrome and cognitive impairment.
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- Australian & New Zealand Journal of Psychiatry, 2019, v. 53, n. 4, p. 370, doi. 10.1177/0004867418814942
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- Article
Fragile X-associated tremor/ataxia syndrome: cognitive presentations.
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- 2017
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- Case Study
Genetic testing of aetiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability.
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- Internal Medicine Journal, 2016, v. 46, n. 2, p. 177, doi. 10.1111/imj.12946
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- Article
Effect of Recurrent Otitis Media on Language Profile in Children with Fragile X Syndrome.
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- Clinical Medicine Insights: Ear, Nose & Throat, 2013, n. 6, p. 1, doi. 10.4137/CMENT.S11157
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- Article
Case 2: An 11-year-old girl with aggressive behaviour and intellectual impairment.
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- 2014
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- Case Study
Fragile X syndrome: Are paediatric health care providers missing the diagnosis?
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- 2013
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- Case Study
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
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- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 4828, doi. 10.1007/s10803-021-05337-6
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- Article
Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome: Developmental Trajectories in Toddlers Through Young Adults.
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- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 11, p. 3957, doi. 10.1007/s10803-020-04459-7
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- Article
Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X.
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- American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 4, p. 284, doi. 10.1352/1944-7558-188.4.284
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- Article
Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.
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- Journal of Neuroscience, 2015, v. 35, n. 41, p. 13836, doi. 10.1523/JNEUROSCI.2656-15.2015
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- Article
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
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- Australian Journal of Primary Health, 2022, v. 28, n. 6, p. 580, doi. 10.1071/PY21247
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- Article
Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome.
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- Journal of Physiology, 2016, v. 594, n. 1, p. 83, doi. 10.1113/JP271031
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- Article
The first case of the FRAXE form of inherited mental retardation in Croatia.
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- 2002
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- Case Study
Relationships Between Early Gestures and Later Language in Children With Fragile X Syndrome.
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- American Journal of Speech-Language Pathology, 2010, v. 19, n. 2, p. 135, doi. 10.1044/1058-0360(2009/09-0018)
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- Article
The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.
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- Journal of Neural Transmission, 2014, v. 121, n. 8, p. 891, doi. 10.1007/s00702-014-1216-0
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- Article
The impact of FMR1 gene mutations on human reproduction and development: a systematic review.
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- Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 9, p. 1135, doi. 10.1007/s10815-016-0765-6
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- Article
AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
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- Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 10, p. 1295, doi. 10.1007/s10815-014-0276-2
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- Article
USING PERCENTILE SCHEDULES TO INCREASE EYE CONTACT IN CHILDREN WITH FRAGILE X SYNDROME.
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- Journal of Applied Behavior Analysis (Wiley-Blackwell), 2009, v. 42, n. 1, p. 171, doi. 10.1901/jaba.2009.42-171
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- Article
FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
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- Gynecological Endocrinology, 2015, v. 31, n. 3, p. 191, doi. 10.3109/09513590.2014.975685
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- Article
Dysregulation of FMRP/mTOR Signaling Cascade in Hypoxic-Ischemic Injury of Premature Human Brain.
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- Journal of Child Neurology, 2016, v. 31, n. 4, p. 426, doi. 10.1177/0883073815596617
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- Article
Fragile X syndrome: a review of clinical and molecular diagnoses.
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- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0355-y
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- Article
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/965839
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- Article
Early identification of autism in fragile X syndrome: a review.
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- Journal of Intellectual Disability Research, 2013, v. 57, n. 9, p. 803, doi. 10.1111/j.1365-2788.2012.01609.x
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- Article
Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
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- Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136
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- Article
Fragile X syndrome. Improving understanding and diagnosis.
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- 1994
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- Publication type:
- commentary
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
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- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 13, p. 1569, doi. 10.1001/jama.1993.03510130075034
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- Article
Clinical implication of FMR1 intermediate alleles in a Spanish population.
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- Clinical Genetics, 2018, v. 94, n. 1, p. 153, doi. 10.1111/cge.13257
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- Article
Short Report Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.
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- Clinical Genetics, 2004, v. 65, n. 4, p. 278, doi. 10.1111/j.1399-0004.2004.00228.x
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- Article
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
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- 2016
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- Publication type:
- journal article
CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.
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- 2016
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- journal article
A new diagnostic algorithm for an early diagnosis of patients with fragile X syndrome.
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- 2016
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- Publication type:
- journal article
Method for the molecular cytogenetic visualization of fragile site FRAXA.
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- Molecular Biology, 2017, v. 51, n. 4, p. 621, doi. 10.1134/S0026893317040069
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- Article
Development of a fragile X syndrome ( FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.
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- Health Expectations, 2015, v. 18, n. 1, p. 69, doi. 10.1111/hex.12009
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- Article
Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI).
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- Apollo Medicine, 2023, v. 20, p. S62, doi. 10.4103/am.am_67_23
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- Article
Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective.
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- 2016
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- Publication type:
- journal article
The FXG: A Presynaptic Fragile X Granule Expressed in a Subset of Developing Brain Circuits.
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- Journal of Neuroscience, 2009, v. 29, n. 5, p. 1514, doi. 10.1523/JNEUROSCI.3937-08.2009
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- Article
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
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- 2015
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- Publication type:
- journal article
Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism.
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- Autism: The International Journal of Research & Practice, 2019, v. 23, n. 2, p. 383, doi. 10.1177/1362361317709202
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- Article
Pilot Evaluation of the Biopsychosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX) with an Extended African American Family.
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- Journal of Theory Construction & Testing, 2012, v. 16, n. 1, p. 22
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- Article
Three peaks in the polymerase chain reaction fragile X analysis.
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- Journal of Medical Screening, 2012, v. 19, n. 3, p. 112, doi. 10.1258/jms.2012.012029
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- Article
Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145537
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- Article
Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486
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- Article
Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122213
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- Article
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
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- 2022
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- Publication type:
- journal article