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Complex Genetics Disorders & Birth Defects

  • 1 Januari 2019, 12.27
  • Oleh: nova.yuli.p.b
  • 0

(VIDEO) effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease

01 Juni 2018

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

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The American Society of Human Genetics

http://www.ashg.org/

Hirschsprung Disease Research Collaborative (HDRC)

hdrcstudy.org

American Journal of Human Genetics (AJHG)

https://www.cell.com/ajhg/home
Universitas Gadjah Mada

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