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Pediatrik Genetik,

Year 2008, Volume: 22 Issue: 3, 171 - 179, 01.12.2008

Abstract

References

  • 1. Lawn JE, Rudan I, Rubens C. Four million newborn deaths: Is the global research agenda evidence-based? Early human development 2008;84:809-814.
  • 2. Gissler M, Alexander S, Macfarlane A et al. Stillbirths and infant deaths among migrants in industrialized countries. Acta Obst Gynecologica 2009;88:134-148.
  • 3. South Africa Every Death Counts Writing Group, Bradshaw D, Chopra M, Kerber K, Lawn JE, Bamford L, Moodley J, Pattison R, Patrick M, Stephen C, Velaphi S. Every death counts;use of mortality audit data for decision making to save the lives of mothers, babies, and children in South Africa. Lancet 2008;371:1294-1304.
  • 4. Young ID. Congenital malformations; Incidence and genetics of congenital malformations. In: Brock DIH, RedeckCH, Ferguson-Smith MA, editors. Prenatal diagnosis and screening. Edinburg: Longman Group UK Limited; 1992;71-71.
  • 5. Rimoin DL, Connor JM, Pyeritz RE eds, Emery and Rimoin’s principles and practice of medical genetics (3rd ed). Churchill Livingstone, New York 1997.
  • 6. Cohen MM. The child with multiple birth defects. Oxford University Press, Oxford 1997.
  • 7. Robinson A, Linden MG. Clinical genetics handbook. 2nd ed. Boston: Blackwell Scientific Publications; 1993.
  • 8. Hook EB. Chromosome abnormalities. Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, FergusonSmith MA, editors. Prenatal diagnosis and screening. Edinburg: Churchill Livingstone; 1992;351-392.
  • 9. Alikaşifoğlu M. Moleküler sitogenetik. Katkı Pediatri Dergisi. Ankara, Hacettepe Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı ve Çocuk Sağlığı Enstitüsü Yayını, 1997:604-615.
  • 10. Kallioniemi OP, Kallioniemi A, Sudar D, Gray JW, Waldman F, Pinkel D. Comparative Genomic Hybridization for moleculer cytogenetic analysis of solid tumor. Science1992; 258:818-821.
  • 11. Stoeva RE, Grozdanova LI, Vermeesch JR et al. Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. Folia Med 2008;50:55-62.
  • 12. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009;1151:157-166.
  • 13. Patterns of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, editors. Thompson and Thompson Genetics in Medicine 6th ed. Philadelphia, Pennsylvania: WB Saunders Company; 2001;51-78.
  • 14. The human genome: structure and function of genes and chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, editors. Thompson and Thompson Genetics in Medicine 6th ed. Philadelphia, Pennsylvania: WB Saunders Company, 2001;17-32.
  • 15. Approaches to gene mapping in complex human diseases. New York: Wiley-Liss Company, 1998.

Pediatrik Genetik,

Year 2008, Volume: 22 Issue: 3, 171 - 179, 01.12.2008

Abstract

Yenidoğanların yaklaşık %3-10’u bir ya da daha fazla majör fiziksel anomali ile doğmaktadırlar. Pediatri servislerinde yatan hastaların, hastalıklarının yaklaşık %50’sinin etyolojisinde genetik faktörler rol oynamaktadır. Genç erişkinlerde bu oran %5 olarak bildirilmiştir. Bu nedenlerle, temel genetik prensiplerin ve uygulamaların tüm kinisyenler, özellikle de pediatristler tarafından bilinmesi gerekmektedir

References

  • 1. Lawn JE, Rudan I, Rubens C. Four million newborn deaths: Is the global research agenda evidence-based? Early human development 2008;84:809-814.
  • 2. Gissler M, Alexander S, Macfarlane A et al. Stillbirths and infant deaths among migrants in industrialized countries. Acta Obst Gynecologica 2009;88:134-148.
  • 3. South Africa Every Death Counts Writing Group, Bradshaw D, Chopra M, Kerber K, Lawn JE, Bamford L, Moodley J, Pattison R, Patrick M, Stephen C, Velaphi S. Every death counts;use of mortality audit data for decision making to save the lives of mothers, babies, and children in South Africa. Lancet 2008;371:1294-1304.
  • 4. Young ID. Congenital malformations; Incidence and genetics of congenital malformations. In: Brock DIH, RedeckCH, Ferguson-Smith MA, editors. Prenatal diagnosis and screening. Edinburg: Longman Group UK Limited; 1992;71-71.
  • 5. Rimoin DL, Connor JM, Pyeritz RE eds, Emery and Rimoin’s principles and practice of medical genetics (3rd ed). Churchill Livingstone, New York 1997.
  • 6. Cohen MM. The child with multiple birth defects. Oxford University Press, Oxford 1997.
  • 7. Robinson A, Linden MG. Clinical genetics handbook. 2nd ed. Boston: Blackwell Scientific Publications; 1993.
  • 8. Hook EB. Chromosome abnormalities. Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, FergusonSmith MA, editors. Prenatal diagnosis and screening. Edinburg: Churchill Livingstone; 1992;351-392.
  • 9. Alikaşifoğlu M. Moleküler sitogenetik. Katkı Pediatri Dergisi. Ankara, Hacettepe Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı ve Çocuk Sağlığı Enstitüsü Yayını, 1997:604-615.
  • 10. Kallioniemi OP, Kallioniemi A, Sudar D, Gray JW, Waldman F, Pinkel D. Comparative Genomic Hybridization for moleculer cytogenetic analysis of solid tumor. Science1992; 258:818-821.
  • 11. Stoeva RE, Grozdanova LI, Vermeesch JR et al. Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. Folia Med 2008;50:55-62.
  • 12. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009;1151:157-166.
  • 13. Patterns of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, editors. Thompson and Thompson Genetics in Medicine 6th ed. Philadelphia, Pennsylvania: WB Saunders Company; 2001;51-78.
  • 14. The human genome: structure and function of genes and chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, editors. Thompson and Thompson Genetics in Medicine 6th ed. Philadelphia, Pennsylvania: WB Saunders Company, 2001;17-32.
  • 15. Approaches to gene mapping in complex human diseases. New York: Wiley-Liss Company, 1998.
There are 15 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Ö. Giray Bozkaya This is me

Publication Date December 1, 2008
Submission Date August 11, 2015
Published in Issue Year 2008 Volume: 22 Issue: 3

Cite

Vancouver Bozkaya ÖG. Pediatrik Genetik,. DEU Tıp Derg. 2008;22(3):171-9.