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MeSH Review

Hernia, Umbilical

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  • Letter: Maternal alpha-fetoprotein and fetal exomphalos [7].
  • Mice homozygous for the calreticulin gene disruption developed omphalocele (failure of absorption of the umbilical hernia) and showed a marked decrease in ventricular wall thickness and deep intertrabecular recesses in the ventricular walls [8].
  • Twenty-five percent had exencephaly and 19% had omphalocele (normal frequencies, < 1%), indicating high frequencies of midline defects, particularly in cranial neurulation [9].
  • We have observed numerous aberrations in Bent tail embryos including exencephaly, rotation defects and occasionally omphalocele, orofacial schisis and situs abnormalities [10].
  • This showed a significantly higher frequency of exomphalos in the CDKN1C mutation cases (11/13) than in patients with an imprinting centre defect (associated with biallelic IGF2 expression and H19 silencing) (0/5, p<0.005) or patients with uniparental disomy (0/9, p<0.005) [11].

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Anatomical context of Hernia, Umbilical


Gene context of Hernia, Umbilical


Analytical, diagnostic and therapeutic context of Hernia, Umbilical


  1. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Caspary, T., Cleary, M.A., Perlman, E.J., Zhang, P., Elledge, S.J., Tilghman, S.M. Genes Dev. (1999) [Pubmed]
  2. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Eggenschwiler, J., Ludwig, T., Fisher, P., Leighton, P.A., Tilghman, S.M., Efstratiadis, A. Genes Dev. (1997) [Pubmed]
  3. Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin. Doyonnas, R., Kershaw, D.B., Duhme, C., Merkens, H., Chelliah, S., Graf, T., McNagny, K.M. J. Exp. Med. (2001) [Pubmed]
  4. Mercury poisoning from mercurochrome therapy of infected omphalocele. Yeh, T.F., Pildes, R.S., Firor, H.V., Szanto, P.B. Lancet (1978) [Pubmed]
  5. Selected midline defect associations: a population study. Khoury, M.J., Cordero, J.F., Mulinare, J., Opitz, J.M. Pediatrics (1989) [Pubmed]
  6. A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies. Kline, A.D., Griffin, C.A., Haddadin, M.H., Chudoba, I., Morsberger, L.A., Hawkins, A.L., Amato, R.S., Munshi, G., Cohen, M.M. Am. J. Med. Genet. A (2004) [Pubmed]
  7. Letter: Maternal alpha-fetoprotein and fetal exomphalos. Seppälä, M., Karjalainen, O., Rapola, J., Lindgren, J. Lancet (1976) [Pubmed]
  8. Calreticulin is essential for cardiac development. Mesaeli, N., Nakamura, K., Zvaritch, E., Dickie, P., Dziak, E., Krause, K.H., Opas, M., MacLennan, D.H., Michalak, M. J. Cell Biol. (1999) [Pubmed]
  9. MARCKS deficiency in mice leads to abnormal brain development and perinatal death. Stumpo, D.J., Bock, C.B., Tuttle, J.S., Blackshear, P.J. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects. Klootwijk, R., Franke, B., van der Zee, C.E., de Boer, R.T., Wilms, W., Hol, F.A., Mariman, E.C. Hum. Mol. Genet. (2000) [Pubmed]
  11. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. Lam, W.W., Hatada, I., Ohishi, S., Mukai, T., Joyce, J.A., Cole, T.R., Donnai, D., Reik, W., Schofield, P.N., Maher, E.R. J. Med. Genet. (1999) [Pubmed]
  12. Neural tube defects and omphalocele in trisomy 18. Moore, C.A., Harmon, J.P., Padilla, L.M., Castro, V.B., Weaver, D.D. Clin. Genet. (1988) [Pubmed]
  13. Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein. Warner, A.A., Pettenati, M.J., Burton, B.K. Obstetrics and gynecology. (1990) [Pubmed]
  14. Hypothyroidism caused by topical povidone-iodine in a newborn with omphalocele. Cosman, B.C., Schullinger, J.N., Bell, J.J., Regan, J.A. J. Pediatr. Surg. (1988) [Pubmed]
  15. End-to-end anastomosis of the jejunum by use of a biofragmentable anastomosis ring in a calf. Iselin, U., Steiner, A. J. Am. Vet. Med. Assoc. (1993) [Pubmed]
  16. Cloacal exstrophy: experience with 20 cases. Lund, D.P., Hendren, W.H. J. Pediatr. Surg. (1993) [Pubmed]
  17. A prospective study of amniotic fluid cholinesterases: comparison of quantitative and qualitative methods for the detection of open neural tube defects. Wyvill, P.C., Hullin, D.A., Elder, G.H., Laurence, K.M. Prenat. Diagn. (1984) [Pubmed]
  18. Prenatal diagnosis of severe structural congenital malformations in Europe. Garne, E., Loane, M., Dolk, H., De Vigan, C., Scarano, G., Tucker, D., Stoll, C., Gener, B., Pierini, A., Nelen, V., Rösch, C., Gillerot, Y., Feijoo, M., Tincheva, R., Queisser-Luft, A., Addor, M.C., Mosquera, C., Gatt, M., Barisic, I. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2005) [Pubmed]
  19. Short clinical report: a new case with de novo partial 9p monosomy. Nagy, E., Bod, M., Nemeth, I., Timar, L. Acta paediatrica Hungarica. (1991) [Pubmed]
  20. Folate-related genes and omphalocele. Mills, J.L., Druschel, C.M., Pangilinan, F., Pass, K., Cox, C., Seltzer, R.R., Conley, M.R., Brody, L.C. Am. J. Med. Genet. A (2005) [Pubmed]
  21. Congenital anterior abdominal wall defects in England and Wales 1987-93: retrospective analysis of OPCS data. Tan, K.H., Kilby, M.D., Whittle, M.J., Beattie, B.R., Booth, I.W., Botting, B.J. BMJ (1996) [Pubmed]
  22. Amniotic fluid alpha-fetoprotein elevation with fetal omphalocele and a possible mechanism for its occurrence. King, C.R., Prescott, G.H. Am. J. Obstet. Gynecol. (1978) [Pubmed]
  23. Cloacal exstrophy sequence: an exceptional ultrasound diagnosis. Meizner, I., Levy, A., Barnhard, Y. Obstetrics and gynecology. (1995) [Pubmed]
  24. Cantrell's syndrome: a challenge to the surgeon. Vazquez-Jimenez, J.F., Muehler, E.G., Daebritz, S., Keutel, J., Nishigaki, K., Huegel, W., Messmer, B.J. Ann. Thorac. Surg. (1998) [Pubmed]
  25. Obstructed umbilical hernias in childhood in Kuwait - Richter - and other types. Doraiswamy, N.V., Al Badr, M.S., Issa, M.A. Zeitschrift für Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft für Kinderchirurgie = Surgery in infancy and childhood. (1981) [Pubmed]
  26. The umbilical cord: care, anomalies, and diseases. Elhassani, S.B. South. Med. J. (1984) [Pubmed]
  27. Omphalocele in Miller-Dieker syndrome: expanding the phenotype. Chitayat, D., Toi, A., Babul, R., Blaser, S., Moola, S., Yarkoni, D., Sermer, M., Johnson, J.A., Vasjar, J., Teshima, I. Am. J. Med. Genet. (1997) [Pubmed]
  28. Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. Katz, L.A., Schultz, R.E., Semina, E.V., Torfs, C.P., Krahn, K.N., Murray, J.C. Am. J. Med. Genet. A (2004) [Pubmed]
  29. Ratio of amniotic fluid acetylcholinesterase to pseudocholinesterase as an antenatal diagnostic test for exomphalos and gastroschisis. Wald, N.J., Barlow, R.D., Cuckle, H.S., Turnbull, A.C., Goldfine, C., Haddow, J.E. British journal of obstetrics and gynaecology. (1984) [Pubmed]
  30. Screening for latent malformations: cost effectiveness in neonates with correctable anomalies. Knight, P.J., Clatworthy, R.W. J. Pediatr. Surg. (1982) [Pubmed]
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