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Overexpression of INSM1, NOTCH1, NEUROD1, and YAP1 genes is associated with adverse clinical outcome in pediatric neuroblastoma.
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- Virchows Archiv: European Journal of Pathology, 2022, v. 481, n. 6, p. 925, doi. 10.1007/s00428-022-03406-4
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- Publication type:
- Article
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum.
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- Journal of Cancer Research & Clinical Oncology, 2019, v. 145, n. 12, p. 3115, doi. 10.1007/s00432-019-03038-3
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- Publication type:
- Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
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- Publication type:
- Article
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
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- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-020-01257-z
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- Publication type:
- Article
Holoprosencephaly: report of four cases and genotype-phenotype correlations.
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- Journal of Genetics, 2013, v. 92, n. 1, p. 97, doi. 10.1007/s12041-013-0215-5
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- Publication type:
- Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
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- Publication type:
- Article
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1576
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- 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.
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- Life (2075-1729), 2024, v. 14, n. 6, p. 731, doi. 10.3390/life14060731
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- Publication type:
- Article
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
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- European Journal of Pediatrics, 2022, v. 181, n. 8, p. 2919, doi. 10.1007/s00431-022-04497-6
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- Publication type:
- Article
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 520, doi. 10.1002/ajmg.c.32021
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- Publication type:
- Article
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
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- Publication type:
- Article
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 608, doi. 10.1002/ajmg.a.62001
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- Publication type:
- Article
Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3052, doi. 10.1002/ajmg.a.61900
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- Publication type:
- Article
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1691, doi. 10.1002/ajmg.a.61301
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- Publication type:
- Article
Cover Image, Volume 179A, Number 9, September 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. i, doi. 10.1002/ajmg.a.61318
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- Publication type:
- Article
Constitutional bone impairment in Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 692, doi. 10.1002/ajmg.a.38086
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- Publication type:
- Article
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
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- Genes, Chromosomes & Cancer, 2023, v. 62, n. 12, p. 703, doi. 10.1002/gcc.23188
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- Publication type:
- Article
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 11, p. 689, doi. 10.1002/gcc.23086
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- Publication type:
- Article
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 12, p. 740, doi. 10.1002/gcc.23092
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- Publication type:
- Article
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 1, p. 10, doi. 10.1002/gcc.22997
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- Publication type:
- Article
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 4, p. 2448, doi. 10.3390/ijerph19042448
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- Publication type:
- Article
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 788, doi. 10.3390/brainsci10110788
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- Publication type:
- Article
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies.
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- Cancers, 2023, v. 15, n. 4, p. 1292, doi. 10.3390/cancers15041292
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- Publication type:
- Article
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
- Published in:
- Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773
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- Publication type:
- Article
Lateralized and Segmental Overgrowth in Children.
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- Cancers, 2021, v. 13, n. 24, p. 6166, doi. 10.3390/cancers13246166
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- Publication type:
- Article
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome.
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- Cancers, 2019, v. 11, n. 1, p. 86, doi. 10.3390/cancers11010086
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- Publication type:
- Article
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
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- European Journal of Endocrinology, 2024, v. 190, n. 4, p. 296, doi. 10.1093/ejendo/lvae035
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- Publication type:
- Article
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1303251
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- Publication type:
- Article
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.
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- Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
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- Publication type:
- Article
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum.
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- Clinical Genetics, 2021, v. 100, n. 5, p. 624, doi. 10.1111/cge.14047
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- Publication type:
- Article
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 719, doi. 10.1111/cge.13931
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- Publication type:
- Article
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01747-w
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- Publication type:
- Article
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization.
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- 2019
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- Publication type:
- Letter
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.
- Published in:
- Pathobiology, 2019, v. 86, n. 4, p. 217, doi. 10.1159/000500627
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- Publication type:
- Article
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.
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- Pediatric Blood & Cancer, 2021, v. 68, n. 9, p. 1, doi. 10.1002/pbc.29132
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- Publication type:
- Article
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome.
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- 2019
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- Publication type:
- journal article
"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".
- Published in:
- Endocrine (1355008X), 2021, v. 74, n. 3, p. 632, doi. 10.1007/s12020-021-02805-y
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- Publication type:
- Article
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Front Cover, Volume 40, Issue 6.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
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- Publication type:
- Article
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
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- Publication type:
- Article
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism.
- Published in:
- Minerva Psychiatry, 2021, v. 62, n. 2, p. 107, doi. 10.23736/S2724-6612.20.02142-1
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- Publication type:
- Article
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome.
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- 2023
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- Publication type:
- Case Study
MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
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- Publication type:
- Article