Literature DB >> 11032793

The promise and pitfalls of telomere region-specific probes.

B C Ballif, C D Kashork, L G Shaffer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 11032793      PMCID： PMC1288581          DOI： 10.1016/S0002-9297(07)62969-3

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.043


× No keyword cloud information.
  9 in total

1.  Caution: telomere crossing.

Authors:  L G Shaffer; C D Kashork; C A Bacino; P J Benke
Journal:  Am J Med Genet       Date:  1999-11-26

2.  A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration.

Authors: 
Journal:  Nat Genet       Date:  1996-09       Impact factor: 38.330

3.  Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Authors:  S W Horsley; S J Knight; J Nixon; S Huson; M Fitchett; R A Boone; D Hilton-Jones; J Flint; L Kearney
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres.

Authors:  S J Knight; S W Horsley; R Regan; N M Lawrie; E J Maher; D L Cardy; J Flint; L Kearney
Journal:  Eur J Hum Genet       Date:  1997 Jan-Feb       Impact factor: 4.246

5.  Subtle chromosomal rearrangements in children with unexplained mental retardation.

Authors:  S J Knight; R Regan; A Nicod; S W Horsley; L Kearney; T Homfray; R M Winter; P Bolton; J Flint
Journal:  Lancet       Date:  1999-11-13       Impact factor: 79.321

Review 6.  Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

Authors:  S J Knight; J Flint
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

7.  Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.

Authors:  C A Bacino; C D Kashork; N A Davino; L G Shaffer
Journal:  Am J Med Genet       Date:  2000-06-05

8.  FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

Authors:  B C Ballif; C D Kashork; L G Shaffer
Journal:  Eur J Hum Genet       Date:  2000-10       Impact factor: 4.246

9.  An optimized set of human telomere clones for studying telomere integrity and architecture.

Authors:  S J Knight; C M Lese; K S Precht; J Kuc; Y Ning; S Lucas; R Regan; M Brenan; A Nicod; N M Lawrie; D L Cardy; H Nguyen; T J Hudson; H C Riethman; D H Ledbetter; J Flint
Journal:  Am J Hum Genet       Date:  2000-06-22       Impact factor: 11.043
  9 in total
  11 in total

1.  Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Authors:  Heidi A Heilstedt; Blake C Ballif; Leslie A Howard; Richard A Lewis; Samuel Stal; Catherine D Kashork; Carlos A Bacino; Stuart K Shapira; Lisa G Shaffer
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025

Review 2.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

3.  High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH).

Authors:  E J Hollox; T Atia; G Cross; T Parkin; J A L Armour
Journal:  J Med Genet       Date:  2002-11       Impact factor: 6.318

4.  "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.

Authors:  Maryam Rafati; Mohammad R Ghadirzadeh; Yaser Heshmati; Homeira Adibi; Zarrintaj Keihanidoust; Mohammad R Eshraghian; Jila Dastan; Azadeh Hoseini; Marzieh Purhoseini; Saeed R Ghaffari
Journal:  Mol Cytogenet       Date:  2012-01-19       Impact factor: 2.009

5.  Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.

Authors:  Alenka Erjavec-Skerget; Spela Stangler-Herodez; Andreja Zagorac; Boris Zagradisnik; Nadja Kokalj-Vokac
Journal:  Croat Med J       Date:  2006-12       Impact factor: 1.351

6.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

7.  "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Authors:  C L Martin; D J Waggoner; A Wong; S Uhrig; J A Roseberry; J F Hedrick; S D Pack; K Russell; E Zackai; W B Dobyns; D H Ledbetter
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

8.  Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.

Authors:  Xueya Hauge; Gordana Raca; Sara Cooper; Kristin May; Rhonda Spiro; Margaret Adam; Christa Lese Martin
Journal:  Genet Med       Date:  2008-08       Impact factor: 8.822

9.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:  Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; Huub Straatman; Walter van der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny M A van Ravenswaaij-Arts; Nine V Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025

10.  Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.

Authors:  Suely Rodrigues dos Santos; Dértia Villalba Freire-Maia
Journal:  J Negat Results Biomed       Date:  2012-12-21
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.