Works matching Fragile X syndrome and genetics
Results: 298
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
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- 2021
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- Publication type:
- journal article
Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.
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- Genes, 2025, v. 16, n. 2, p. 149, doi. 10.3390/genes16020149
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- Article
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations.
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- Genes, 2016, v. 7, n. 12, p. 110, doi. 10.3390/genes7120110
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- Article
Genetic Counseling for Families of Patients With Fragile X Syndrome.
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- 2004
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- Publication type:
- Abstract
Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors.
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- Journal of Genetic Counseling, 2005, v. 14, n. 4, p. 249, doi. 10.1007/s10897-005-4802-x
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- Article
Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report.
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- Journal of Basic Research in Medical Sciences, 2024, v. 11, n. 4, p. 12
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- Article
Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12488, doi. 10.3390/ijms241512488
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- Article
BASES GENÉTICAS Y BIOLÓGICAS DEL SÍNDROME DE X FRÁGIL.
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- Ciencia en Desarrollo, 2012, v. 4, n. 1, p. 9
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- Article
Genetic Counseling for Families of Patients With Fragile X Syndrome.
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- 2004
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- Publication type:
- Letter
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 478, doi. 10.1038/ejhg.2012.189
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- Article
Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR.
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- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2007, v. 14, n. 4, p. 515, doi. 10.1016/S1472-6483(10)60901-7
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- Publication type:
- Article
Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.
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- Journal of Genetic Counseling, 2000, v. 9, n. 4, p. 303, doi. 10.1023/A:1009454112907
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- Article
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.
- Published in:
- 2023
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- Publication type:
- Case Study
Fragile X Syndrome: Molecular Analysis Reveals a New Mechanism of Mutation in Human Genetic Diseases.
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- Annals of Medicine, 1992, v. 24, n. 6, p. 453, doi. 10.3109/07853899209166994
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- Publication type:
- Article
Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent's Perspective.
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- Journal of Genetic Counseling, 2011, v. 20, n. 1, p. 58, doi. 10.1007/s10897-010-9326-9
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- Article
Pain and gain of predictive genetic testing: Particular case of fragile X syndrome.
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- 2024
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- Publication type:
- Abstract
Psychopathology in fragile X syndrome. Experience in a genetic disorders unit from a children and adolescent mental health center.
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- European Psychiatry, 2020, v. 63, p. S325
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- Publication type:
- Article
Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023.
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- 2023
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- Editorial
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.
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- 2021
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- Publication type:
- Case Study
Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome.
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- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9240-2
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- Article
ACOG committee opinion. Fragile X syndrome. American College of Obstetricians and Gynecologists Committee on Genetics.
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- 1996
- Publication type:
- journal article
Genetic counseling for families of patients with fragile X syndrome.
- Published in:
- 2004
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- Publication type:
- commentary
Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review.
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- SAMJ: South African Medical Journal, 2013, p. 994, doi. 10.7196/SAMJ.7144
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- Publication type:
- Article
Genetic Removal of Matrix Metalloproteinase 9 Rescues the Symptoms of Fragile X Syndrome in a Mouse Model.
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- Journal of Neuroscience, 2014, v. 34, n. 30, p. 9867, doi. 10.1523/JNEUROSCI.1162-14.2014
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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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- Publication type:
- Article
Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.
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- Australian Journal of General Practice, 2024, v. 53, p. S78, doi. 10.31128/ajgp-10-23-6989
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- Publication type:
- Article
Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.
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- Genes, Brain & Behavior, 2012, v. 11, n. 5, p. 586, doi. 10.1111/j.1601-183X.2012.00781.x
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- Publication type:
- Article
Avances en investigación de la discapacidad intelectual de origen genético: tratamientos experimentales en el síndrome X frágil.
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- Spanish Journal of Disability Studies / Revista Española de Discapacidad, 2017, v. 5, n. 1, p. 217, doi. 10.5569/2340-5104.05.01.12
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- Article
Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates.
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- Collegium Antropologicum, 2011, v. 35, p. 327
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- Publication type:
- Article
Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR.
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- Experimental & Therapeutic Medicine, 2018, v. 15, n. 6, p. 5107, doi. 10.3892/etm.2018.6060
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- Article
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 417, doi. 10.1038/ejhg.2014.185
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- Publication type:
- Article
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 10, doi. 10.1038/ejhg.2010.135
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- Publication type:
- Article
Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome.
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- Annals of Child Neurology, 2021, v. 29, n. 3, p. 134, doi. 10.26815/acn.2021.00353
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- Article
Preimplantation genetic diagnosis for Fragile X syndrome.
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- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S30, doi. 10.1016/S1472-6483(10)62339-5
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- Publication type:
- 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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- Publication type:
- Article
Molecular genetic analysis of mentally retarded males with features of the fragile--X syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 6, p. 544, doi. 10.1111/j.1365-2788.1995.tb00576.x
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- Publication type:
- Article
Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140
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- Article
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
- Published in:
- 2007
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- Publication type:
- journal article
Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.
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- Journal of Genetic Counseling, 1994, v. 3, n. 3, p. 233, doi. 10.1007/BF01412229
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- Article
Neurobiology of Fragile X syndrome: From molecular genetics to neurobehavioral phenotype.
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- Microscopy Research & Technique, 2002, v. 57, n. 3, p. 131, doi. 10.1002/jemt.10065
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- Article
Genetic background mutations drive neural circuit hyperconnectivity in a fragile X syndrome model.
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- BMC Biology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12915-020-00817-0
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- Article
Frajil X Sendromu: Moleküler ve Klinik Genetik Yönleri.
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- Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2018, v. 7, n. 4, p. 74
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- Article
Divergence in cytogenetic and molecular genetic analysis results: a case report of Fragile X Syndrome among siblings.
- Published in:
- 2010
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- Publication type:
- Journal Article
Divergence in Cytogenetic and Molecular Genetic Analysis Results: A Case Report of Fragile X Syndrome among Siblings.
- Published in:
- International Medical Journal, 2010, v. 17, n. 2, p. 135
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- Publication type:
- Article
Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes?
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- Prenatal Diagnosis, 2009, v. 29, n. 1, p. 57, doi. 10.1002/pd.2179
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- Publication type:
- Article
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers.
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- Prenatal Diagnosis, 2001, v. 21, n. 6, p. 504, doi. 10.1002/pd.111
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- 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.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1236
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- Publication type:
- Article
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1024
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- Article
The fragile X syndrome: implications of molecular genetics for the clinical syndrome.
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- European Journal of Clinical Investigation, 1994, v. 24, n. 1, p. 1, doi. 10.1111/j.1365-2362.1994.tb02052.x
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- Publication type:
- Article
Fragile X syndrome and autism at the intersection of genetic and neural networks.
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- Nature Neuroscience, 2006, v. 9, n. 10, p. 1221, doi. 10.1038/nn1765
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- Publication type:
- Article