Literature DB >> 1496980

Minireview: cryptic translocations and telomere integrity.

D H Ledbetter1.   

Abstract

Mesh：

Year:  1992        PMID： 1496980      PMCID： PMC1682701     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 in total

1.  Structure and polymorphism of human telomere-associated DNA.

Authors:  W R Brown; P J MacKinnon; A Villasanté; N Spurr; V J Buckle; M J Dobson
Journal:  Cell       Date:  1990-10-05       Impact factor: 41.582

2.  Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.

Authors:  J Overhauser; U Bengtsson; J McMahon; J Ulm; M G Butler; L Santiago; J J Wasmuth
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

3.  Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopy.

Authors:  T Ried; A Baldini; T C Rand; D C Ward
Journal:  Proc Natl Acad Sci U S A       Date:  1992-02-15       Impact factor: 11.205

4.  Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.

Authors:  A O Wilkie; D R Higgs; K A Rack; V J Buckle; N K Spurr; N Fischel-Ghodsian; I Ceccherini; W R Brown; P C Harris
Journal:  Cell       Date:  1991-02-08       Impact factor: 41.582

5.  Cloning of human telomeres by complementation in yeast.

Authors:  S H Cross; R C Allshire; S J McKay; N I McGill; H J Cooke
Journal:  Nature       Date:  1989-04-27       Impact factor: 49.962

6.  The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes.

Authors:  R M Speed
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

7.  A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

Authors:  G P Bates; M E MacDonald; S Baxendale; Z Sedlacek; S Youngman; D Romano; W L Whaley; B A Allitto; A Poustka; J F Gusella
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

8.  Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector.

Authors:  H C Riethman; R K Moyzis; J Meyne; D T Burke; M V Olson
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

9.  Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

Authors:  A Kuwano; S A Ledbetter; W B Dobyns; B S Emanuel; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

10.  Structure and variability of human chromosome ends.

Authors:  T de Lange; L Shiue; R M Myers; D R Cox; S L Naylor; A M Killery; H E Varmus
Journal:  Mol Cell Biol       Date:  1990-02       Impact factor: 4.272
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  18 in total

1.  Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Authors:  Blake C Ballif; Keiko Wakui; Marzena Gajecka; Lisa G Shaffer
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

Review 2.  Demystified ... FISH.

Authors:  J J Waters; A L Barlow; C P Gould
Journal:  Mol Pathol       Date:  1998-04

3.  Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors:  H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

4.  Characterization of short tandem repeats from thirty-one human telomeres.

Authors:  M Rosenberg; L Hui; J Ma; H C Nusbaum; K Clark; L Robinson; L Dziadzio; P M Swain; T Keith; T J Hudson; L G Biesecker; J Flint
Journal:  Genome Res       Date:  1997-09       Impact factor: 9.043

5.  Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

Authors:  A T Tharapel; K P Anderson; J L Simpson; P R Martens; R S Wilroy; J C Llerena; C E Schwartz
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

6.  Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.

Authors:  A Jauch; L Robson; A Smith
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

7.  Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Authors:  D T Pilz; A Dalton; A Long; T Jaspan; E L Maltby; O W Quarrell
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

8.  Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

Authors:  Y Ning; M Rosenberg; L G Biesecker; D H Ledbetter
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

9.  De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Authors:  D T Bonthron; S J Smith; J Fantes; C M Gosden
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

Review 10.  Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.

Authors:  A O Wilkie
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025
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