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22q11.2 Low Copy Repeats Expanded in the Human Lineage.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.706641
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- Publication type:
- Article
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 175, doi. 10.1002/ajmg.c.31622
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- Publication type:
- Article
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 950, doi. 10.1002/ajmg.a.36379
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- Publication type:
- Article
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3137, doi. 10.1002/ajmg.a.36149
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- Publication type:
- Article
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 527, doi. 10.1002/ajmg.a.35784
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- Publication type:
- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
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- Publication type:
- Article
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01184-5
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- Publication type:
- Article
SEGMENTAL DUPLICATIONS: AN 'EXPANDING' ROLE IN GENOMIC INSTABILITY AND DISEASE.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 10, p. 791, doi. 10.1038/35093500
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- Publication type:
- Article
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-4
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- Publication type:
- Article
Copy number variation at 1q21.1 associated with neuroblastoma.
- Published in:
- Nature, 2009, v. 459, n. 7249, p. 987, doi. 10.1038/nature08035
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- Publication type:
- Article
Cis-acting influences on Alu RNA levels.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 23, p. 4755, doi. 10.1093/nar/28.23.4755
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- Publication type:
- Article
Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene.
- Published in:
- Brain Pathology, 2009, v. 19, n. 3, p. 449, doi. 10.1111/j.1750-3639.2008.00225.x
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- Publication type:
- Article
Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 1, p. 206, doi. 10.1002/ana.22283
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- Publication type:
- Article
Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 633, doi. 10.1111/dmcn.15109
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- Publication type:
- Article
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 15, p. 2838, doi. 10.1093/hmg/ddx157
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- Publication type:
- Article
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 15, p. 4443, doi. 10.1093/hmg/ddv180
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- Publication type:
- Article
Genome-wide copy number variations in a large cohort of bantu African children.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00978-z
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- Publication type:
- Article
Genomic regions associated with microdeletion/ microduplication syndromes exhibit extreme diversity of structural variation.
- Published in:
- Genetics, 2021, v. 217, n. 2, p. 1, doi. 10.1093/genetics/iyaa038
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- Publication type:
- Article
Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies.
- Published in:
- Congenital Heart Disease, 2011, v. 6, n. 6, p. 592, doi. 10.1111/j.1747-0803.2011.00582.x
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- Publication type:
- Article
The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
- Published in:
- 2017
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- Publication type:
- journal article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
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- Publication type:
- Article
SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 371, doi. 10.1002/humu.20863
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- Publication type:
- Article
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
- Published in:
- Human Mutation, 2006, v. 27, n. 5, p. 467, doi. 10.1002/humu.20322
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- Publication type:
- Article
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 332, doi. 10.1002/humu.20228
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- Publication type:
- Article
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 880, doi. 10.1093/hmg/ddq527
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- Publication type:
- Article
Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1377, doi. 10.1093/hmg/ddp042
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- Publication type:
- Article
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 1, p. 103, doi. 10.1093/hmg/ddh004
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- Publication type:
- Article
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2817, doi. 10.1093/hmg/ddg301
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- Publication type:
- Article
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2727, doi. 10.1093/hmg/9.18.2727
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- Publication type:
- Article
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 4, p. 489, doi. 10.1093/hmg/9.4.489
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- Publication type:
- Article