BibTex RIS Kaynak Göster

Pediatrik Genetik,

Yıl 2008, Cilt: 22 Sayı: 3, 171 - 179, 01.12.2008

Öz

Kaynakça

  • 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,

Yıl 2008, Cilt: 22 Sayı: 3, 171 - 179, 01.12.2008

Öz

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

Kaynakça

  • 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.
Toplam 15 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ö. Giray Bozkaya Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2008
Gönderilme Tarihi 11 Ağustos 2015
Yayımlandığı Sayı Yıl 2008 Cilt: 22 Sayı: 3

Kaynak Göster

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