PAC PEDIATRÍA-1 Tomo 5
Contenido
REFERENCIAS

NUEVAS FRONTERAS DE LA GENÉTICA HUMANA EN PEDIATRÍA
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LOS CRONOGENES EN EL CRECIMIENTO Y DESARROLLO
  1. Arredondo-Vega FX, Guízar-Vázquez JJ. Genética del crecimiento y desarrollo. En: Guízar-Vázquez JJ (ed). Genética clínica. Diagnóstico y manejo de las enfermedades hereditarias. México: El Manual Moderno, 1994; 101-123.

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DEFECTOS AL NACIMIENTO SECUNDARIOS A ALTERACIONES EN LA BLASTOGÉNESIS
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  4. Martínez-Frías ML, Frías JL. Primary developmental field III: Clinical and epidemiologial study of blastogenetic anomalies and their relationship to different MCA patterns. Am J Med Genet 1997; 70: 11-15

  5. Panel discussion: Applied developmental biology. Birth Defects Orig Artic Ser. 1979;XV:99-114

  6. Martínez-Frías ML, Urioste M, Bermejo E, Rodríguez-Pinilla E, Félix V, Paisán L, Martínez S, Egues J, Gómez F, Aparicio P, Cucalón F, Arroyo A, Meipp C, Vázquez S, Rodríguez JI, Rosa A, García J, Jiménez N, Moro C. Primary midline development field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry). Am J Med Genet 1995;56:382-388

  7. Opitz JM. Blastogenesis and the “primary field” in human development. Birth Defects: Orig Artic Ser 1993;XXIX:3-37

  8. Martínez-Frías ML. Primary midline developmental field. I. Clinical and epidemiological characteristics. Am J Med Genet 1997;56:374-381

  9. Martínez-Frías ML, Frías JL. Are blastogenetic anomalies sporadic? Am J Med Genet. 1997;
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  10. Mathias RS, Lacro RV, Jones KL. X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 1987;28:111-116.

  11. Zlotogora J, Schimmel MS, Glaser Y. Familial situs inversus and congenital heart defects. Am J Med Gen0et 1987;26:181-184.

  12. de Meeus, Sarda P, Tenconi R, Ferrière M, Bouvagnet P. Blastogenesis dominant 1: A sequence with midline anomalies and heterotaxy. Am J Med Genet 1997;68:405-408.

  13. Debrous S, Sauer U, Gilgenkrantz S, Jost W, Jesberger HJ, Bouvagnet P. Autosomal recessive lateralization and midline defects: Blastogenesis recessive 1. Am J Med Genet 1997;68:401-404

  14. Willecke K, Jungbluth S, Dahl E, Hennemann H, Heynekes R, Grzeschik KH. Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol 1990;
    53:275-280

  15. Ruangvoravat CP, Lo CW. Connexin 43 expression in the mouse embryo: localization of transcripts within developmentally significant domains. Dev Dyn 1992;194:261-281

  16. Reaume A, de Sousa P, Kulkarni S, Langille B, Zhu D, Davies T, Juneja S, Kidder G, Rossant J. Cardiac malformation in neonatal mice lacking Connexin43. Science 1995;267:1831-4.

  17. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH. Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 1995;332:1323-9.

  18. Casey B, Ballabio A. Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med 1995;333:941.

  19. Penman SM, Burn J, Goodship J. Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med 1995; 333:941.

  20. Gebbia M, Towbin JA, Casey B. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 1996;
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  21. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens L, Lancaster PAL, Martínez-Frías ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 1997;71:8-15.

  22. Rittler M, Paz JE, Castilla EE. VATERL: an epidemiologic analysis of risk factors. Am J Med Genet 1997;73:162-169.

  23. Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W. VACTERL with the mitochondrial NP 3243 point mutation. Am J Med Genet 1996;62:398-403.

  24. Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJM. The expanding clinical phenotype of the tRNALeu(UUR) A-G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet 1996;62:404-409.

  25. Stone DL, Biesecker LG. Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. Am J Med Genet 1997;72:237-238.

ANÁLISIS GENÉTICO DE LAS CARDIOPATÍAS CONGÉNITAS EN FAMILIAS MEXICANAS
  1. Zavala C. Interacción genético-ambiental en las enfermedades hereditarias. En Guizar-Vázquez J (ed) Genética clínica. Diagnóstico y manejo de las enfermedades hereditarias. México: Manual Moderno, 1994, pp. 207-215.

  2. Fishman MC, Satainier DYR. Cardiovascular development. Prospect for a genetic approach. Circ Res 1994; 74: 757-763.

  3. Clark EB, Van Mierop LH. Development of the cardiovascular system. En: Adams F, Emmanouilides G, Remenschneider T. Moss’ Heart Disease in Infants, Children and Adolescents. Baltimore, Williams & Wilkins, 1989, pp 2-15.

  4. Clark R, Clark E. Etiology of congenital heart disease. En: Reedom RM, Benson LN, Smallhorn JF (Eds). Neonatal heart disease. Toronto: Springer-Verlag, l992, pp 3-17.

  5. Maestri EN, Beaty TH, Boughman JA. Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations. Am J Hum Genet 1989; 45: 556-564.

  6. Nora J. Etiologic aspects of heart diseases. En: Adams F, Emmanouilides G, Reimenschneider T: Moss’ Heart disease in infants, children and adolescents. Baltimore: Williams & Wilkins, l989, pp l5-23.

  7. Siegel S. Estadística no paramétrica. México: Trillas, 1985.

  8. Feldt RH. Atrial septal defects and atrioventricular canal, En: Adams F, Emmanouilides G, Remenschneider T: Moss’ Heart disease in infants, children and adolescents. Baltimore: Williams & Wilkins, 1989, pp 170-188.

  9. Heymann MA. Patent ductus arteriosus. En Moss AJ, Adams FH (eds). Heart disease in infants, children and adolescents. Baltimore: Williams & Wilkins, 1983, pp 158.

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  12. Nora J, McGill C, McNamara D. Empiric recurrence risks in common and uncommon congenital heart lesions. Teratology 1970; 3: 325-329.

  13. Laursen HB. Some epidemiological aspects on congenital heart disease in Denmark. Acta Paediatr Scand 1980; 69: 619-624

  14. Burn J. Congenital heart defects, the risks to offspring. Arch Dis Child l983; 58: 947-948.

  15. Fishman MC, Stainier DYR. Cardiovascular development. Pospect for a genetic approach. Circ Res 1994; 74: 757-763.


AGENTES TERATOGÉNICOS Y DEFECTOS AL NACIMIENTO
  1. Shepard RH. Catalog of teratogenic agents. 7¬ ed. Baltimore, The Johns Hopkins University Press, 1992.

  2. Espinoza G, Guízar J. Horizontes embrionarios y teratogénesis. En: Guízar-Vázquez J, (ed). Genética clínica. Diagnóstico y manejo de las enfermedades hereditarias. 2a ed. México: El Manual Moderno, 1994. pp 125-135.

  3. Stevenson RE, Hall JG. Terminology. En: Stevenson RE, Hall JG, Goodman RM, (eds). Human malformations and related anomalies. Vol I. Nueva York: Oxford University Press, 1993. pp 21-30.

  4. Stevenson RE. The environmental basis of human anomalies. En: Stevenson RE, Hall JG, Goodman RM, (eds). Human malformations and related anomalies. Vol I. Nueva York: Oxford University Press, 1993. pp 137-168.

  5. Finnell RH, Van Waes M. Contributions of animal studies to understanding human congenital anomalies. En Stevenson RE, Hall JG, Goodman RM, (eds). Human malformations and related anomalies. Vol I. Nueva York: Oxford University Press, 1993. pp 95-114.

  6. Johnston MC: Understanding human embryonic development. En: Stevenson RE, Hall JG, Goodman RM, (eds). Human malformations and related anomalies. Vol I. Nueva York: Oxford University Press, 1993. pp 31-63.

  7. Juchau MR. Chemical teratogenesis. Prog Drug Res 1993;41:9-50.

  8. Frias JL, Thomas IT. Teratogens and teratogenesis: general principles of clinical teratology. Ann Clin Lab Sci 1988;18:174-179.

  9. Ayme S. Fetal alcohol syndrome. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 684-685.

  10. Buehlers BA, Hanson JW. Fetal hydantoin syndrome. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 714-715.

  11. Rosa FW. Fetal retinoid syndrome. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Blackwell Scientific Publications, Cambridge: 1990. pp 722-723.

  12. Pober B. Fetal diethylstilbestrol (DES) effects. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 694-695.

  13. Miller RW. Fetal radiation syndrome. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 721-722.

  14. Roberts RM. Fetal effects from maternal hyperthermia. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 703-705.

  15. Rosa WF, Manon RW, Wiznia AA. Fetal acquired immune deficiency syndrome (AIDS) infection. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 682-684.

  16. Moore CA, Weaver DD. Fetal toxoplasmosis syndrome. En: Buyse ML, (ed). Birth defects encyclopedia. Vol I. Cambridge: Blackwell Scientific Publications, 1990. pp 727-729.

  17. Daston GP. Advances in understanding mechanisms of toxicity and implications for risk assessment. Reprod Toxicol 1997;11:389-396.

  18. Mueller-Klieser W. Three-dimensional cell cultures: from molecular mechanisms to clinical applications. Am J Physiol 1997;273(4 Pt 1):C1109-C1123.



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Copyright © 2005 Dr. Scope. Derechos Reservados.
Diseño y Programación: Educación Médica Contínua