Información del artículo
El Texto completo está disponible en PDF
Bibliografía
[1.]
International Human Genome Sequencing Consortium.
Initial sequencing and analysis of the human genome.
Nature, 409 (2001), pp. 860-921
[2.]
J.C. Venter, M.D. Adams, E.W. Myers, P.W. Li, R.J. Mural, G.G. Sutton, et al.
The sequence of the human genome.
Science, 291 (2001), pp. 1304-1351
[3.]
F.S. Collins, V.A. McKusick.
Implications of the Human Genome Project for medical science.
Jama, 285 (2001), pp. 540-544
[4.]
G. Subramanian, M.D. Adams, J.C. Venter, S. Broder.
Implications of the human genome for understanding human biology and medicine.
Jama, 286 (2001), pp. 2296-2307
[5.]
S. Anderson, A.T. Bankier, B.G. Barrell, M.H. De Bruijn, A.R. Coulson, A. Drouin, et al.
Sequence and organization of the human mitochondrial genome.
Nature, 290 (1981), pp. 427-465
[6.]
J.D. Watson, F.H.C. Crick.
Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid.
Nature, 171 (1953), pp. 737
[7.]
S.E. Antonorakis.
Mutations in human diseases: nature and consequences.
Emery and Rimoin's principles and practice of medical genetics, 3rd ed, pp. 53-66
[8.]
E. Lyon, C. Miller.
Current challenges in cystic fibrosis screening.
Arch Pathol Lab Med, 127 (2003), pp. 1133-1139
[9.]
R.M. Hofstra, I.M. Mulder, R. Vossen.
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hum Mutat, 23 (2004), pp. 57-66
[10.]
S. Hecimovic, I. Barisic, A. Muller, I. Petkovic, I. Baric, I. Ligutic, et al.
Expand long PCR for fragile X mutation detection.
Clin Genet, 52 (1997), pp. 147-154
[11.]
S. Malcolm.
Molecular methodology.
Emery and Rimoin's principles and practice of medical genetics, 3rd ed, pp. 67-86
[12.]
K. Mullis, F. Faloona, S. Scharf, R. Saiki, G. Horn, H. Erlich.
Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction.
Cold Spring Harb Symp Quant Biol, 51 (1986), pp. 263
[13.]
C. Dib, S. Faure, C. Fizames, D. Samson, N. Drouot, A. Vignal, et al.
A comprehensive genetic map of the human genome based on 5,264 microsatellites.
Nature, 380 (1996), pp. 152-154
[14.]
A.L. Beaudet, C.R. Scriver, W.S. Sly, D. Valle, et al.
Genetics, biochemistry, and molecular bases of variant human phenotypes.
The metabolic and molecular basis of inherited disease, 8th ed, pp. 1-45
[15.]
T. Strachan, A.P. Read.
Genetic testing in individuals and population.
Human molecular genetics, pp. 427-455
[16.]
E. Guillén Navarro.
Estudios moleculares en dismorfología.
An Esp Pediatr, 54 (2001), pp. 105-112
[17.]
A.H. Begg, M. Koenig, F.M. Boyce, L.M. Kunkel.
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Hum Genet, 86 (1990), pp. 45-48
[18.]
C.M. Strom, R. Levin, S. Strom, C. Masciangelo, A. Kuliev, Y. Verlinsky.
Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.
Pediatrics, 106 (2000), pp. 650-665
[19.]
American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors.
Point to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents.
Am J Hum Genet, 57 (1995), pp. 1233-1241
[20.]
Committee on Genetics. American Academy of Pediatrics.
American Academy of Pediatrics. Molecular genetic testing in pediatric practice.
Pediatrics, 106 (2000), pp. 1494-1497
[21.]
L.F. Ross, M.R. Moon.
Ethical issues in genetic testing of children.
Arch Pediatr Adolesc Med, 154 (2000), pp. 873-887
[22.]
X. Ke, S. Hunt, W. Tapper, R. Lawrence, G. Stavrides, J. Ghori, et al.
The impact of SNP density on fine-scale patterns of linkage desequilibrium.
Hum Mol Genet, 13 (2004), pp. 577-588
Copyright © 2004. Elsevier España, S.L.. Todos los derechos reservados