Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
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Mechanisms of change in gene copy numberLarge deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BMolecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsUpdate on Kleefstra Syndrome.A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Tandem repeats and G-rich sequences are enriched at human CNV breakpointsDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Complex human chromosomal and genomic rearrangements.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.Genomic disorders ten years on.Terminal 18q deletions are stabilized by neotelomeresLarge inverted duplications in the human genome form via a fold-back mechanism.Decoding NF1 Intragenic Copy-Number Variations.Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients.Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literatureGenomic segmental duplications on the basis of the t(9;22) rearrangement in chronic myeloid leukemia
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P2860
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@en
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
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type
label
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@en
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@nl
prefLabel
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@en
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@nl
P2093
P2860
P356
P1476
Molecular mechanisms for subte ...... 9q34.3 microdeletion syndrome.
@en
P2093
A Craig Chinault
Ellen K Brundage
Erin K Roney
James R Lupski
Sau Wai Cheung
Svetlana A Yatsenko
P2860
P304
P356
10.1093/HMG/DDP114
P577
2009-03-17T00:00:00Z