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Boletín Médico del Hospital Infantil de México

2009, Number 5

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Bol Med Hosp Infant Mex 2009; 66 (5)

Beckwith-Wiedemann syndrome

Morán-Barroso VF, García-Delgado C, Villa-Guillen M, Bracho-Blanchet E, Perezpeña-Diazconti M

Language: Spanish
References: 15
Page: 451-460
PDF size: 282.22 Kb.


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REFERENCES

  1. O´Leary VB, Mills JL, Parle-McDermott A, Pangilinan F, Molloy AM, Cox C, et al. Screening for new MTHFR polymorphism and NTD risk. Am J Med Genet. 2005; 138A: 99-106.

  2. Botto LD, Mulinare J, Erickson JD. Occurrence of omphalocele in relation to maternal multivitamin use: A population -based study. Pediatrics. 2002; 109: 904-8.

  3. Benitz WE, Han MY, Madan A, Ramachandra P. Serial serum C-reactive levels in the diagnosis of neonatal infection. Pediatrics. 1998; 102: E41.

  4. Sotelo-Ávila C, González-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential. J Pediatr. 1980; 96: 47.

  5. Emery A, Rimoin DL. Principles and practice of medical genetics. En: Graham JM Jr., Rimoin DL, editores. Abnormal body size and proportion. 4ta ed. Vol. I. New York: Churchill Livingstone; 78-9.

  6. Camprubi-Sánchez C. From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes. Rev Neurol. 2006; 42: S61-7.

  7. Kotzot D. Prenatal testing for uniparental disomy: Indications and clinical relevance. Ultrasound Obstet Gynecol. 2008; 31: 100-5.

  8. Morison IM, Reeve AE. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet. 1998; 7: 1599-609.

  9. Cohen MM Jr. Beckwith-Wiedemann syndrome: Historical, clinic-pathological, and etiopathogenetic perspectives. Pediatr Dev Pathol. 2005; 8: 287.

  10. Beckwith JB. Children at increased risk for Wilms tumor: Monitoring issues. J Pediatr. 1998; 132: 377.

  11. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr. 1983; 141: 128.

  12. www.ncbi.nlm.nih.gov/OMIM

  13. Hall JG. Genomic imprinting: Review and relevance to human disease. Am J Hum Genet. 1990; 46: 857-73.

  14. Cerrato F. The two-domain hypothesis in Beckwith-Wiedemann syndrome: Autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet. 2005; 14: 503-11.

  15. Cooper WNl. Molecular subtypes and phenotipic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2005; 13: 1025-32.




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