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Complex Genetics Disorders & Birth Defects

Persistent Bowel Symptoms pada Hirschsprung

29 Mei 2018
Kenapa terjadi keluhan berulang pada pasien Hirschsprung pasca operasi?   Oleh: dr. Gunadi, Ph.D, Sp.BA   Penyakit Hirschsprung (HSCR) merupakan penyakit genetik kompleks yang disebabkan oleh tidak terbentuknya sistem saraf intestinal (SSI) secara sempurna saat usia kehamilan 5-8 minggu. HSCR ...
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PUBLIKASI
  1. Gunadi, Iskandar K, Makhmudi A, Kapoor A. (2019) Combined genetic effects of RET and NRG1 susceptibility variants on multifactorial Hirschsprung disease in Indonesia. Journal of Surgical Research, 233:96-99. PMID: 30502294 
  2. Gunadi, Budi NYP, Kalim AS, Santiko W, Musthofa F, Iskandar K, Makhmudi A. (2018) Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease. Orphanet Journal of Rare Diseases (in-press)
  3. Gunadi, Budi NYP, Sethi R, et al. (2018) NRG1 variant effects in patients with Hirschsprung disease. BMC Pediatrics, 18:292. PMID: 30180823
  4. Gunadi, Sunardi M, Budi N, et al. (2018) The impact of down-regulated SK3 expressions on Hirschsprung disease. BMC Medical Genetics, 19:24 PMID: 29439660
  5. Makhmudi A, Aryandono T, Sudiharto P, Heij HA, Gunadi (2018) ICAM1 K469E polymorphism effect in gastroschisis patients. International Surgery, 102:362-366. 
  6. Gunadi, Makhmudi A, Agustriani N, Rochadi. (2016). Effects of SEMA3 polymorphisms in Hirschsprung disease patients. Pediatric Surgery International, 32:1025-1028. PMID: 27469503
  7. Gunadi, Dwihantoro A, Iskandar K, et al. (2016). Accuracy of PCR-RFLP for RET rs2435357 genotyping as Hirschsprung risk. Journal of Surgical Research, 203:91-94. PMID: 27338539
  8. Makhmudi A, Sadewa AH, Aryandono T, Chatterjee S, Heij HA, Gunadi. (2016). Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis. Journal of Investigative Surgery, 29:88-92. PMID: 26375922
  9. Gunadi, Kapoor A, Ling AY, et al. (2014). Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. Journal of Pediatric Surgery, 49:1614-1618. PMID: 25475805 
  10. Rochadi, Sadewa AH, Haryana SM, Gunadi. (2014). Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population. International Surgery, 99:802-806. PMID: 25437590