Síndrome de microduplicación 3q29
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010
2. 3q29 interstitial microduplication: a new syndrome in a three-generation family;Lisi;Am J Med Genet Par A,2008
3. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008
4. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting;Goobie;Cytogenet Genome Res,2008
5. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements;Emanuel;Nat Rev Genet,2007
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1. 3q29 duplications: A cohort of 46 patients and a literature review;American Journal of Medical Genetics Part A;2024-02-29
2. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing;Genome Medicine;2023-05-10
3. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome;Clinical Dysmorphology;2023-02-17
4. Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination;2021-11-15
5. 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases;European Journal of Medical Genetics;2020-12
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