Found: 192
Select item for more details and to access through your institution.
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1440555
- By:
- Publication type:
- Article
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
- Published in:
- European Journal of Health Economics, 2024, v. 25, n. 6, p. 999, doi. 10.1007/s10198-023-01644-0
- By:
- Publication type:
- Article
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8313, doi. 10.3390/ijms25158313
- By:
- Publication type:
- Article
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1225, doi. 10.1002/mds.29795
- By:
- Publication type:
- Article
BCL11B‐Related Dystonia: Further Evidence of an Emerging Cause of Childhood‐Onset Generalized Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 897, doi. 10.1002/mdc3.14084
- By:
- Publication type:
- Article
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma‐like mesenchymal tumors.
- Published in:
- Journal of Pathology, 2024, v. 263, n. 2, p. 166, doi. 10.1002/path.6272
- By:
- Publication type:
- Article
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 6, p. 731, doi. 10.3390/life14060731
- By:
- Publication type:
- Article
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00578-x
- By:
- Publication type:
- Article
Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 258, doi. 10.1002/epi4.12864
- By:
- Publication type:
- Article
Caspase-dependent apoptosis in Ribloflavin transporter deficiency iPSCs and derived motor neurons.
- Published in:
- Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-01812-y
- By:
- Publication type:
- Article
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 1, p. e2353514, doi. 10.1001/jamanetworkopen.2023.53514
- By:
- Publication type:
- Article
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-023-01621-7
- By:
- Publication type:
- Article
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2783, doi. 10.1002/ajmg.a.63395
- By:
- Publication type:
- Article
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
- By:
- Publication type:
- Article
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1843, doi. 10.3390/genes14101843
- By:
- Publication type:
- Article
Reversing vemurafenib‐resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
- Published in:
- International Journal of Cancer, 2023, v. 153, n. 5, p. 1080, doi. 10.1002/ijc.34602
- By:
- Publication type:
- Article
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1231434
- By:
- Publication type:
- Article
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1209339
- By:
- Publication type:
- Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
- By:
- Publication type:
- Article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
- By:
- Publication type:
- Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
- By:
- Publication type:
- Article
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1338, doi. 10.3390/genes14071338
- By:
- Publication type:
- Article
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170061
- By:
- Publication type:
- Article
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 160, doi. 10.1002/ajmg.c.32034
- By:
- Publication type:
- Article
DNA methylation signature classification of rare disorders using publicly available methylation data.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 688, doi. 10.1111/cge.14304
- By:
- Publication type:
- Article
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 6, p. 899, doi. 10.3390/jpm13060899
- By:
- Publication type:
- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
- Published in:
- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
- By:
- Publication type:
- Article
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7988, doi. 10.3390/ijms24097988
- By:
- Publication type:
- Article
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
- By:
- Publication type:
- Article
The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 5, p. 4573, doi. 10.3390/ijerph20054573
- By:
- Publication type:
- Article
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1090082
- By:
- Publication type:
- Article
Editorial: Endocrine aspects of Noonan syndrome and related syndromes.
- Published in:
- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1127686
- By:
- Publication type:
- Article
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 425, doi. 10.1002/ajmg.c.32012
- By:
- Publication type:
- Article
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 501, doi. 10.1002/ajmg.c.32022
- By:
- Publication type:
- Article
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 510, doi. 10.1002/ajmg.c.32025
- By:
- Publication type:
- Article
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14656, doi. 10.3390/ijms232314656
- By:
- Publication type:
- Article
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxia.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 10, p. 1, doi. 10.1007/s00018-022-04544-3
- By:
- Publication type:
- Article
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00414-y
- By:
- Publication type:
- Article
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2796, doi. 10.1002/ajmg.a.62869
- By:
- Publication type:
- Article
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1201, doi. 10.1002/humu.24399
- By:
- Publication type:
- Article
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.951331
- By:
- Publication type:
- Article
Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.855786
- By:
- Publication type:
- Article
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
- Published in:
- Molecular Neurobiology, 2022, v. 59, n. 8, p. 4825, doi. 10.1007/s12035-022-02886-4
- By:
- Publication type:
- Article
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4078, doi. 10.3390/jcm11144078
- By:
- Publication type:
- Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
- By:
- Publication type:
- Article
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement.
- Published in:
- Biomedicines, 2022, v. 10, n. 6, p. 1329, doi. 10.3390/biomedicines10061329
- By:
- Publication type:
- Article
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
- Published in:
- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 1277, doi. 10.2147/JMDH.S291757
- By:
- Publication type:
- Article
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 889, doi. 10.3390/genes13050889
- By:
- Publication type:
- Article