Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
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Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeresGenomic profile of copy number variants on the short arm of human chromosome 8.Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.Alternative lengthening of telomeres: recurrent cytogenetic aberrations and chromosome stability under extreme telomere dysfunction.Chromosomal aberrations involving telomeres and interstitial telomeric sequences.Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.Holokinetic centromeres and efficient telomere healing enable rapid karyotype evolution.Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements
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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
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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 15 December 2006
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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 characterisation of ...... re and neo-telomere formation.
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Molecular characterisation of ...... re and neo-telomere formation.
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type
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Molecular characterisation of ...... re and neo-telomere formation.
@en
Molecular characterisation of ...... re and neo-telomere formation.
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prefLabel
Molecular characterisation of ...... re and neo-telomere formation.
@en
Molecular characterisation of ...... re and neo-telomere formation.
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P2860
P356
P1476
Molecular characterisation of ...... re and neo-telomere formation.
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P2093
Elena Mansilla
Elyes Chabchoub
Enrique Galán
Jean-Pierre Fryns
Joris Robert Vermeesch
Laura Rodríguez
Maria Luisa Martínez-Fernandez
Maria Luisa Martínez-Frías
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P304
P356
10.1136/JMG.2006.045476
P407
P577
2006-12-15T00:00:00Z