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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
- Published in:
- Chromosome Research, 2024, v. 32, n. 2, p. 1, doi. 10.1007/s10577-024-09750-2
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- Publication type:
- Article
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
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- Haemophilia, 2023, v. 29, n. 3, p. 921, doi. 10.1111/hae.14771
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- Publication type:
- Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
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- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
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- Publication type:
- Article
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0676-0
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- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
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- Publication type:
- Article
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
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- Publication type:
- Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- letter
Validity and Reliability of the Portuguese Version of the Dispositional Flow Scale-2 in Exercise.
- Published in:
- Journal of Sport Psychology / Revista de Psicología del Deporte, 2012, v. 21, n. 1, p. 81
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- Publication type:
- Article
A large CRISPR-induced bystander mutation causes immune dysregulation.
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- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0321-x
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- Publication type:
- Article
Replicative mechanisms for CNV formation are error prone.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1319, doi. 10.1038/ng.2768
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.
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- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005050
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- Publication type:
- Article
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain.
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- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003358
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- Publication type:
- Article
Abnormal expression of MDM2 in prostate carcinoma.
- Published in:
- 2001
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- Publication type:
- journal article
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
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0655-8
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- Publication type:
- Article
A new role for anandamide: defective link between the systemic and skin endocannabinoid systems in hypertrophic human wound healing.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68058-3
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- Publication type:
- Article
Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107028
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- Publication type:
- Article
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
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- PLoS Genetics, 2019, v. 15, n. 2, p. 1, doi. 10.1371/journal.pgen.1007858
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- Publication type:
- Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
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- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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- Publication type:
- Article
DFT calculations on the structural and electronic properties of vacancy effects in the silicon nanowires.
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- European Physical Journal B: Condensed Matter, 2019, v. 92, n. 4, p. N.PAG, doi. 10.1140/epjb/e2019-90571-6
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- Publication type:
- Article
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-64
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- Publication type:
- Article
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-71
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- Publication type:
- Article
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 8, p. 1564, doi. 10.1111/aogs.14898
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- Publication type:
- Article
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
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605
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- Publication type:
- Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
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- Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537
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- Publication type:
- Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
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- Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
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- Publication type:
- Article
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
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- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1927, doi. 10.1093/hmg/ddx102
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- Publication type:
- Article
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
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- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4061, doi. 10.1093/hmg/ddv146
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- Publication type:
- Article
Craniofacial phenotypes associated with Robinow syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3606, doi. 10.1002/ajmg.a.61986
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Publication type:
- Article
Extremity anomalies associated with Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3584, doi. 10.1002/ajmg.a.61884
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- Publication type:
- Article
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3576, doi. 10.1002/ajmg.a.61854
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- Publication type:
- Article
Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2632, doi. 10.1002/ajmg.a.61843
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- Publication type:
- Article
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 6, p. 771, doi. 10.1002/ana.21715
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- Publication type:
- Article
Mechanisms for Complex Chromosomal Insertions.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006446
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- Publication type:
- Article
DETERMINANTS OF REGIONAL GROWTH IN PORTUGAL: AN EMPIRICAL ANALYSIS.
- Published in:
- Economics & Sociology, 2015, v. 8, n. 4, p. 11, doi. 10.14254/2071-789X.2015/8-4/1
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- Publication type:
- Article