medigraphic.com
SPANISH

Revista Cubana de Genética Comunitaria

ISSN 2070-8718 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2012, Number 2

Next >>

Rev Cub Gen 2012; 6 (2)

Exome sequencing opportunities for clinical genetics

Lantigua CA
Full text How to cite this article

Language: Spanish
References: 8
Page: 5-8
PDF size: 370.44 Kb.


Key words:

No keywords

Text Extraction

No abstract.


REFERENCES

  1. Maher B. Genomes on prescription. Nature. 2011;478: 22-24.

  2. Jones, K L. Smiht. Patrones reconocibles de malformaciones humanas. Sexta Edición. Madrid: ELSEVIER; 2007: 286-287.

  3. Ogilvy-Stuast AL, Parsons AC. Miller syndrome (postaxial acrofacial dysostois): Further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet. 1991;28: 693- 700.

  4. Ng SB, Buckingham KJ, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson, Jay Shendure and Michael J Bamshad. Exome sequencing identifies the cause of a mendelian disorder. Nature Genet. 2010;42: 30-35.

  5. Roach JC, Glusman G, Smit AFA. Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad, M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science 2010; 328:636-639.

  6. Boyadjiev SA, Kim S-D, Hata A, Haldeman-Englert C, Zackat EH, Naydeman C, Hamamoto S, Schekman BW , Kim J. Crabio-lenticulo-sutural dysplasia associated wich defects in collagen secretion. Clin Genet. 2011;80:169-176.

  7. Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, Wallis SJ, Chen K, Payton JE, Fulton RS, Veizer J, Schmidt H, Vickery TL, Heath S; Watson MA, Tomasson, MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Ley TJ, Wilson RK. Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene. Am Med Assoc. 2011;305: 1577-1584.

  8. Skirton H, Celine Lewis C, Kent A, Coviello DA. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet . 2010; 18:97




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Cub Gen . 2012;6