Found: 27
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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.708348
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- Publication type:
- Article
Methylome profiling of healthy and central precocious puberty girls.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0581-1
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- Publication type:
- Article
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-63
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- Publication type:
- Article
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
- Published in:
- 2014
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- Publication type:
- journal article
Number of rare germline CNVs and TP53 mutation types.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 101, doi. 10.1186/1750-1172-7-101
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- Publication type:
- Article
DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/376423
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- Publication type:
- Article
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19274-6
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- Publication type:
- Article
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
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- Publication type:
- Article
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2335, doi. 10.1002/ajmg.a.62237
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- Publication type:
- Article
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 766, doi. 10.1002/ajmg.a.37494
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- Publication type:
- Article
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 1032, doi. 10.1038/ng1858
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- Publication type:
- Article
Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics.
- Published in:
- Biomolecules (2218-273X), 2019, v. 9, n. 12, p. 843, doi. 10.3390/biom9120843
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- Publication type:
- Article
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1085, doi. 10.1038/ejhg.2012.306
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- Publication type:
- Article
Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 4039, doi. 10.1038/ncomms5039
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- Publication type:
- Article
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting.
- Published in:
- Annals of Human Genetics, 2024, v. 88, n. 2, p. 113, doi. 10.1111/ahg.12532
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- Publication type:
- Article
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 1, p. 18, doi. 10.1111/ahg.12402
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- Publication type:
- Article
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170386
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- Publication type:
- Article
Mutational spectrum of WTX, WT1, CTNNB1, APC and PLCG2 genes in Wilms tumor defined by massive parallel resequencing.
- Published in:
- 2012
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- Publication type:
- Abstract
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Publication type:
- Article
Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.
- Published in:
- 2023
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- Publication type:
- Case Study
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 7, p. 3758, doi. 10.1007/s12035-023-03311-0
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- Publication type:
- Article
Insights in Osteosarcoma by Proton Nuclear Magnetic Resonance Serum Metabonomics.
- Published in:
- Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.506959
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- Publication type:
- Article
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
- Published in:
- Clinical Endocrinology, 2018, v. 88, n. 3, p. 425, doi. 10.1111/cen.13535
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- Publication type:
- Article
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
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- Molecular Syndromology, 2016, v. 7, n. 6, p. 344, doi. 10.1159/000450971
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- Publication type:
- Article
Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals.
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- Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/2584940
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- Publication type:
- Article
Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2013, v. 108, n. 8, p. 1372, doi. 10.1038/ajg.2013.176
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- Publication type:
- Article
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
- Published in:
- 2012
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- Publication type:
- journal article