De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
about
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeAt least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.De novo telomere addition by Tetrahymena telomerase in vitro.Perfect endings: a review of subtelomeric probes and their use in clinical diagnosisDevelopmentally regulated telomerase activity is correlated with chromosomal healing during chromatin diminution in Ascaris suum.Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Germ-line effects of a mutator, mu2, in Drosophila melanogaster.Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysisTandem repeats and G-rich sequences are enriched at human CNV breakpointsDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsInterstitial deletions are not the main mechanism leading to 18q deletions.Molecular structure of a wheat chromosome end healed after gametocidal gene-induced breakage.α-Thalassemia, mental retardation, and myelodysplastic syndrome.Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Chromosome end elongation by recombination in the mosquito Anopheles gambiae.Chromosome healing through terminal deletions generated by de novo telomere additions in Saccharomyces cerevisiae.Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphismsTypes, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.Healing of broken human chromosomes by the addition of telomeric repeatsA novel specificity for the primer-template pairing requirement in Tetrahymena telomerase.Aging, healing, and the metabolism of telomeres.FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.
P2860
Q24656220-997C89F4-9EB1-45AF-8495-28CD529EF597Q33678266-F3F9BB00-6791-477E-9B96-3ADA79BC3834Q33886150-30BFD53F-59C4-4DFB-9C29-65BD8FA1CFD2Q33941622-09146BE2-8F70-4453-A4F6-151FE4470FD8Q33957899-8C3EED0D-3E7F-428A-9DB3-7FDBB800A1E5Q33967982-CAA0D62E-99D3-4FDD-9E5F-811EC10E7A4AQ33970502-5C98393E-26D8-4C0F-A2D6-B39F11085BF0Q35194066-422815E7-319E-4D40-A0B9-F88174B01C28Q35199018-A30AF9B9-E47D-46CE-8A5E-14D49AA1A05CQ35200158-2572D927-0598-411A-89D4-2F8ED34FEB28Q35239185-3D15E0B7-9514-4A70-8474-67808A986C84Q35881781-73105DC5-C812-4692-9BB2-8DC0B56ABDEEQ35889194-B3F96BC3-AC1D-4927-97AD-5EAA2F40CB83Q36080012-5D916A1B-0EC6-4C94-9C8D-3EA06B0A278EQ36330302-B20F2517-BCEC-4BAF-9045-35124B24A2CDQ36385065-F157A6E2-FF01-45A2-AB2B-ACB42356D968Q36571591-AF6F192D-5662-457E-91CC-16F72A44E3C0Q37513278-C2643E6A-56DD-4485-A5C4-8F75933365A3Q40541891-0C42691C-03C3-4CD6-8225-D62D1791292FQ41660473-B7C5B561-7F39-4827-8F2F-BE8581F58FAEQ42557386-81110A4B-0B5E-474B-8A01-95B7CE8C3DB7Q42638798-7A7B81E4-C661-4B49-9037-6FD8E630E710Q43059988-0791B6D1-C606-4B99-9946-E59538B49746Q43232398-3429CD3E-5151-4DFE-B015-F5B3F316B490
P2860
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
De novo truncation of chromoso ...... retardation syndrome (ATR-16).
@en
type
label
De novo truncation of chromoso ...... retardation syndrome (ATR-16).
@en
prefLabel
De novo truncation of chromoso ...... retardation syndrome (ATR-16).
@en
P2093
P2860
P1476
De novo truncation of chromoso ...... retardation syndrome (ATR-16)
@en
P2093
P2860
P304
P407
P577
1993-04-01T00:00:00Z