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Items: 30

1.

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Gucev ZS, Tasic VB, Saveski A, Polenakovic MH, Laban NB, Zechner U, Bartsch O.

Clin Dysmorphol. 2019 Jul;28(3):142-144. doi: 10.1097/MCD.0000000000000268. No abstract available.

PMID:
30921089
2.

Renal dysplasia in Bardet-Biedl syndrome.

Ristoska Bojkovska N, Spahiu L, Janchevska A, Gucev ZS, Tasic V.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):211-5.

PMID:
26076793
3.

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

Laban NB, Tasic VB, Danilovski D, Polenakovic M, Gucev ZS.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):209-11.

PMID:
26076792
4.

Emanuel Syndrome (ES): new case-report and review of the literature.

Jancevska S, Kitanovski M, Laban N, Danilovski D, Tasic V, Gucev ZS.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):205-8. Review.

PMID:
26076791
5.

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F.

N Engl J Med. 2015 Jan 22;372(4):341-50. doi: 10.1056/NEJMoa1406829. Epub 2015 Jan 7.

6.

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F.

J Am Soc Nephrol. 2015 Mar;26(3):543-51. doi: 10.1681/ASN.2014040388. Epub 2014 Oct 8.

7.

Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty.

Krstevska-Konstantinova M, Tasic VB, Montenegro LR, Dervisov D, Beneduzzi D, Gontijo Silveira LF, Gucev ZS.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):129-32.

PMID:
24802197
8.
9.

Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty.

Krstevska-Konstantinova M, Jovanovska J, Tasic VB, Montenegro LR, Beneduzzi D, Silveira LF, Gucev ZS.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):199-201. doi: 10.1515/jpem-2013-0080.

PMID:
23950571
10.

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL.

Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17.

PMID:
23335591
11.

Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.

Gucev ZS, Tee MK, Chitayat D, Wherrett DK, Miller WL.

J Pediatr. 2013 Apr;162(4):819-22. doi: 10.1016/j.jpeds.2012.10.012. Epub 2012 Nov 15.

PMID:
23158025
12.

Idursulfatase therapy in mucopolysaccharidosis type II: after 2.5 years of treatment--no benefit for older patients with multisystem involvement.

Gucev ZS, Tasic V.

Pediatr Neurol. 2012 Mar;46(3):199-200; author reply 200. doi: 10.1016/j.pediatrneurol.2012.01.006. No abstract available.

PMID:
22353301
13.

A giant osteochondroma in a boy with multiple exostoses.

Kirovski I, Gucev ZS, Tasic V, Pop-Jordanova N.

Prilozi. 2011;32(2):317-21.

PMID:
22286633
14.

Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.

Gucev ZS, Pop-Jordanova N, Calovska V, Tasic V, Slavevska N, Laban N, Noli MC, Lepori MB, Loudianos G.

Prilozi. 2011;32(2):307-15.

PMID:
22286624
15.

Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.

Gucev ZS, Tasic V, Sinigerska I, Kremensky I, Tincheva R, Pop-Jordanova N, Danilovski D, Hofer D, Paschke E.

Prilozi. 2011;32(2):187-98.

PMID:
22286622
16.

Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).

Gucev ZS, Slaveska N, Laban N, Danilovski D, Tasic V, Pop-Jordanova N, Zatkova A.

Prilozi. 2011;32(1):305-11.

PMID:
21822197
17.

Rare diseases with renal involvement in the Republic of Macedonia.

Tasic V, Lozanovski VJ, Danilovski D, Laban N, Pop-Jordanova N, Polenakovic M, Gucev ZS.

Prilozi. 2011;32(1):55-67.

PMID:
21822178
18.

On rare and "super-rare" diseases: an insight from the Republic of Macedonia.

Gucev ZS, Tasic V, Polenakovic M.

Prilozi. 2011;32(1):7-11.

PMID:
21822175
19.

Childhood craniopharyngioma in Macedonia: incidence and outcome after subtotal resection and cranial irradiation.

Gucev ZS, Danilovski D, Tasic V, Ugrinovski J, Nastova V, Jancevska A, Krstevska-Konstantinova M, Pop-Jordanova N, Kirovski I.

World J Pediatr. 2011 Feb;7(1):74-8. doi: 10.1007/s12519-011-0250-3. Epub 2010 Dec 30.

PMID:
21191780
20.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471.

PMID:
20503311
21.

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

Gucev ZS, Pop-Jordanova N, Dumalovska G, Stomnaroska O, Zafirovski G, Tasic VB.

Cases J. 2009 Dec 30;2:9403. doi: 10.1186/1757-1626-2-9403.

22.

Growth hormone deficiency (GHD) and small for gestational age (SGA): genetic alterations.

Jancevska A, Gucev ZS, Tasic V, Pop-Jordanova N.

Prilozi. 2009 Dec;30(2):33-55. Review.

PMID:
20087248
23.

Papillorenal syndrome after Beta-interferon treatment in pregnancy.

Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V.

Ren Fail. 2009;31(7):602-5.

PMID:
19839859
24.

Type I Gaucher disease (GDI) in three siblings: enzyme replacement treatment (ERT) required.

Gucev ZS, Tasic V, Pop-Jordanova N, Kirovski I, Stomnaroska O, Martinova M, Jancevska A, Kremensky I, Sinigerska I.

Prilozi. 2009 Jul;30(1):233-40.

PMID:
19736544
26.

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.

Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG.

Am J Med Genet A. 2008 Oct 15;146A(20):2688-90. doi: 10.1002/ajmg.a.32515.

27.

Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.

Gucev ZS, Tasic V, Jancevska A, Zafirovski G, Kremensky I, Sinigerska I, Nanba E, Higaki K, Gucev F, Suzuki Y.

Am J Med Genet A. 2008 Jul 1;146A(13):1736-40. doi: 10.1002/ajmg.a.32318.

PMID:
18546276
28.

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.

Trajkovski Z, Vrcakovski M, Saveski J, Gucev ZS.

Am J Med Genet. 2002 Sep 1;111(4):415-9.

PMID:
12210303
29.

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