Found: 41
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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1146, doi. 10.1111/j.1528-1167.2012.03501.x
- By:
- Publication type:
- Article
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14491, doi. 10.3390/ijms232214491
- By:
- Publication type:
- Article
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 15, p. 3621, doi. 10.3390/ijms20153621
- By:
- Publication type:
- Article
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rhinencephalon changes in tuberous sclerosis complex.
- Published in:
- Neuroradiology, 2018, v. 60, n. 8, p. 813, doi. 10.1007/s00234-018-2045-x
- By:
- Publication type:
- Article
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 355, doi. 10.1002/ajmg.c.31653
- By:
- Publication type:
- Article
Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 281, doi. 10.1002/ajmg.c.31651
- By:
- Publication type:
- Article
Current concepts on epilepsy management in tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 299, doi. 10.1002/ajmg.c.31652
- By:
- Publication type:
- Article
Tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 274, doi. 10.1002/ajmg.c.31657
- By:
- Publication type:
- Article
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2238, doi. 10.1002/ajmg.a.62203
- By:
- Publication type:
- Article
Sleep and behavior in children and adolescents with tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1421, doi. 10.1002/ajmg.a.62123
- By:
- Publication type:
- Article
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2479, doi. 10.1002/ajmg.a.61810
- By:
- Publication type:
- Article
Aortic dilation in Sotos syndrome: An underestimated feature?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591
- By:
- Publication type:
- Article
PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1477, doi. 10.1002/ajmg.a.61555
- By:
- Publication type:
- Article
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 823, doi. 10.1002/ajmg.a.61486
- By:
- Publication type:
- Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266
- By:
- Publication type:
- Article
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1538, doi. 10.1002/ajmg.a.37644
- By:
- Publication type:
- Article
Glioblastoma multiforme in a child with tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2388, doi. 10.1002/ajmg.a.37158
- By:
- Publication type:
- Article
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063
- By:
- Publication type:
- Article
Corrigendum to 'Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A:2316-2320'.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1083, doi. 10.1002/ajmg.a.36382
- By:
- Publication type:
- Article
Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2316, doi. 10.1002/ajmg.a.36116
- By:
- Publication type:
- Article
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2009, doi. 10.1002/ajmg.a.35993
- By:
- Publication type:
- Article
Medical care of adolescents and women with Rett syndrome: An Italian study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 13, doi. 10.1002/ajmg.a.34367
- By:
- Publication type:
- Article
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Negative Atopy Patch Test and Negative Skin Prick Test Reduce the Need for Oral Food Challenge in Children with Atopic Dermatitis.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2011, v. 24, n. 2, p. 107, doi. 10.1089/ped.2010.0044
- By:
- Publication type:
- Article
Hot water epilepsy and SYN1 variants.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
- By:
- Publication type:
- Article
The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613035
- By:
- Publication type:
- Article
Epilepsy in adult patients with tuberous sclerosis complex.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 144, n. 1, p. 29, doi. 10.1111/ane.13416
- By:
- Publication type:
- Article
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155331
- By:
- Publication type:
- Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 237, doi. 10.1002/pd.6424
- By:
- Publication type:
- Article
Prenatal and postnatal findings in five cases of Fryns syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Other
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/4899372
- By:
- Publication type:
- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1183, doi. 10.1002/humu.24012
- By:
- Publication type:
- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1346, doi. 10.1002/humu.23822
- By:
- Publication type:
- Article
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 652, doi. 10.3390/genes12050652
- By:
- Publication type:
- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
- By:
- Publication type:
- Article
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5
- By:
- Publication type:
- Article
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 150, n. 1, p. 23, doi. 10.1159/000452090
- By:
- Publication type:
- Article