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4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015) Cover

4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015)

Open Access
|Apr 2016

References

  1. 1. Tasic V, Lozanovski VJ, Danilovski D, Laban N, Pop-Jordanova N, Polenakovic M, Gucev ZS. Rare diseases with renal involvement in the Republic of Macedonia. Prilozi. 2011; 32: 55-67.
  2. 2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009; 106: 19096-101.10.1073/pnas.0910672106276859019861545
  3. 3. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, et al. SRNS Study Group, Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015; 26: 1279-89.10.1681/ASN.2014050489444687725349199
  4. 4. Lovric S, Ashraf S, Tan W, Hildebrandt F. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2015 Oct 27. pii: gfv355. [Epub ahead of print]10.1093/ndt/gfv355636794426507970
  5. 5. Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, et al. PodoNet Consortium. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. Clin J Am Soc Nephrol. 2015; 10: 592-600.10.2215/CJN.06260614438625025635037
  6. 6. Ashraf S, Gee HY, Woerner S, Xie LX, Vega- Warner V, Lovric S, Fang H, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013; 123: 5179-89.10.1172/JCI69000385942524270420
  7. 7. Horling K, Schlegel G, Schulz S, Vierk R, Ullrich K, Santer R, Rune GM. Hippocampal synaptic connectivity in phenylketonuria. Hum Mol Genet. 2015; 24: 1007-18.10.1093/hmg/ddu51525296915
  8. 8. Tournev I. The Meryon Lecture at the 18th Annual Meeting of the Meryon Society Wolfson College, Oxford, UK, 12th September 2014: Neuromuscular disorders in Roma (Gypsies) - collaborative studies, epidemiology, community-based carrier testing program and social activities. Neuromuscul Disord. 2015 Oct 22. pii: S0960-8966(15)00744-0.10.1016/j.nmd.2015.10.00226564278
  9. 9. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, et al. Clinical delineation and natural history of the PIK3CArelated overgrowth spectrum. Am J Med Genet A. 2014; 164A: 1713-33.10.1002/ajmg.a.36552432069324782230
  10. 10. Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG. Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A. 2008; 146A: 2688-90.10.1002/ajmg.a.32515281937418816642
  11. 11. Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012; 44: 928-33.10.1038/ng.2332346140822729222
  12. 12. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011; 365: 410-21.10.1056/NEJMoa110386421675912
  13. 13. Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, et al. Autosomal- Recessive Mutations in SLC34A1 Encoding Sodium- Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2015 Jun 5. pii: ASN.2014101025. [Epub ahead of print]10.1681/ASN.2014101025473111126047794
  14. 14. Baltsavias G, Khan N, Filipce V, Valavanis A. Selective and superselective angiography of pediatric moyamoya disease angioarchitecture in the posterior circulation. Interv Neuroradiol. 2014; 20: 403-12.10.15274/INR-2014-10041418743425207901
  15. 15. Baltsavias G, Valavanis A, Filipce V, Khan N. Selective and superselective angiography of pediatric moyamoya disease angioarchitecture: the anterior circulation. Interv Neuroradiol. 2014; 20: 391-402.10.15274/INR-2014-10050418743325207900
DOI: https://doi.org/10.1515/prilozi-2015-0091 | Journal eISSN: 1857-8985 | Journal ISSN: 1857-9345
Language: English
Page range: 154 - 159
Published on: Apr 14, 2016
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2016 Zoran Gucev, Velibor Tasic, Momir Polenakovic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.