Literature DB >> 16551793

DNA analysis: what and when to request?

G Norbury1, C J Norbury.   

Abstract

Over the last 15 years genetic testing by DNA analysis has expanded enormously both in volume and range due to advances in scientific knowledge and analytical technology. This type of analysis has the potential to provide rapid, cost effective, and accurate diagnostic information but also has its limitations. Some of the changes detected may be of ambiguous consequence and as the knowledge base expands so too does the recognition that other factors can influence the clinical picture. In many cases outcomes may be predicted only on a statistical basis rather than individually. Careful attention should therefore be given to the clinical question that is being addressed before such testing is requested.

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Year:  2006        PMID: 16551793      PMCID: PMC2065980          DOI: 10.1136/adc.2005.089219

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  8 in total

1.  Germline and gonosomal mosaicism in the ATR-X syndrome.

Authors:  S Bachoo; R J Gibbons
Journal:  Eur J Hum Genet       Date:  1999-12       Impact factor: 4.246

Review 2.  Genomic profiling to promote a healthy lifestyle: not ready for prime time.

Authors:  Susanne B Haga; Muin J Khoury; Wylie Burke
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

3.  Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Authors:  Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg
Journal:  Hum Mutat       Date:  2004-06       Impact factor: 4.878

4.  Segmental duplications and copy-number variation in the human genome.

Authors:  Andrew J Sharp; Devin P Locke; Sean D McGrath; Ze Cheng; Jeffrey A Bailey; Rhea U Vallente; Lisa M Pertz; Royden A Clark; Stuart Schwartz; Rick Segraves; Vanessa V Oseroff; Donna G Albertson; Daniel Pinkel; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2005-05-25       Impact factor: 11.025

5.  NHS publicises advances in antenatal and neonatal screening programmes.

Authors:  Allison Barrett
Journal:  BMJ       Date:  2005-07-23

6.  Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.

Authors:  Norman R Alpert; Saidi A Mohiddin; Dorothy Tripodi; Jacqueline Jacobson-Hatzell; Kelly Vaughn-Whitley; Christine Brosseau; David M Warshaw; Lameh Fananapazir
Journal:  Am J Physiol Heart Circ Physiol       Date:  2004-11-04       Impact factor: 4.733

Review 7.  The floppy infant: contribution of genetic and metabolic disorders.

Authors:  Asuri N Prasad; Chitra Prasad
Journal:  Brain Dev       Date:  2003-10       Impact factor: 1.961

8.  Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

Authors:  Anna L Gloyn; Elizabeth A Cummings; Emma L Edghill; Lorna W Harries; Rachel Scott; Teresa Costa; I Karen Temple; Andrew T Hattersley; Sian Ellard
Journal:  J Clin Endocrinol Metab       Date:  2004-08       Impact factor: 5.958

  8 in total
  1 in total

Review 1.  The genetic basis of disease.

Authors:  Maria Jackson; Leah Marks; Gerhard H W May; Joanna B Wilson
Journal:  Essays Biochem       Date:  2018-12-02       Impact factor: 8.000

  1 in total

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