Open Access

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


Cite

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.Search in Google Scholar

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.0910672106276859019861545Search in Google Scholar

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.2014050489444687725349199Search in Google Scholar

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/gfv355636794426507970Search in Google Scholar

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.06260614438625025635037Search in Google Scholar

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/JCI69000385942524270420Search in Google Scholar

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/ddu51525296915Search in Google Scholar

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.2015.10.00226564278Search in Google Scholar

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.36552432069324782230Search in Google Scholar

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.32515281937418816642Search in Google Scholar

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.2332346140822729222Search in Google Scholar

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/NEJMoa110386421675912Search in Google Scholar

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.2014101025473111126047794Search in Google Scholar

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-2014-10041418743425207901Search in Google Scholar

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-2014-10050418743325207900Search in Google Scholar

eISSN:
1857-8985
ISSN:
1857-9345
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, History and Ethics of Medicine, Clinical Medicine, other, Social Sciences, Education