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Items: 38

1.

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A.

Neurol Genet. 2018 Mar 27;4(2):e227. doi: 10.1212/NXG.0000000000000227. eCollection 2018 Apr. No abstract available.

2.

Genetic testing of individuals with pre-senile cataract identifies patients with myotonic dystrophy type 2.

Rakočević-Stojanović V, Perić S, Pešović J, Senćanić I, Božić M, Šviković S, Brkušanin M, Savić-Pavićević D.

Eur J Neurol. 2017 Nov;24(11):e79-e80. doi: 10.1111/ene.13401. No abstract available.

PMID:
29024355
3.

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.

Pešović J, Perić S, Brkušanin M, Brajušković G, Rakočević-Stojanović V, Savić-Pavićević D.

Neurogenetics. 2017 Dec;18(4):207-218. doi: 10.1007/s10048-017-0523-7. Epub 2017 Sep 23.

PMID:
28942489
4.

Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies.

Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V.

J Neurol. 2017 Sep;264(9):1899-1908. doi: 10.1007/s00415-017-8574-0. Epub 2017 Jul 29.

PMID:
28756605
5.

Personality traits in patients with myotonic dystrophy type 2.

Paunic T, Peric S, Parojcic A, Savic-Pavicevic D, Vujnic M, Pesovic J, Basta I, Lavrnic D, Rakocevic-Stojanovic V.

Acta Myol. 2017 Mar;36(1):14-18.

6.

NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia.

Vučić NLJ, Nikolić ZZ, Vukotić VD, Tomović SM, Vuković II, Kanazir SD, Savić-Pavićević DLJ, Brajušković GN.

Andrologia. 2018 Feb;50(1). doi: 10.1111/and.12817. Epub 2017 May 3.

PMID:
28466478
7.

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V.

Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15.

PMID:
28295036
8.

Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2.

Rakocevic-Stojanovic V, Peric S, Dujmovic I, Drulovic J, Pesovic J, Savic-Pavicevic D.

J Neuromuscul Dis. 2017;4(1):89-92. doi: 10.3233/JND-160192.

PMID:
28106565
9.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA.

Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.

PMID:
28087732
10.

Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients.

Karanović J, Ivković M, Jovanović VM, Šviković S, Pantović-Stefanović M, Brkušanin M, Damjanović A, Brajušković G, Savić-Pavićević D.

J Neural Transm (Vienna). 2017 May;124(5):621-629. doi: 10.1007/s00702-017-1677-z. Epub 2017 Jan 13.

PMID:
28084537
11.

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2.

Peric S, Rakocevic Stojanovic V, Mandic Stojmenovic G, Ilic V, Kovacevic M, Parojcic A, Pesovic J, Mijajlovic M, Savic-Pavicevic D, Meola G.

Neurol Sci. 2017 Mar;38(3):415-423. doi: 10.1007/s10072-016-2778-4. Epub 2016 Nov 28.

PMID:
27896491
12.

Genetic variants in RNA-induced silencing complex genes and prostate cancer.

Nikolić Z, Savić Pavićević D, Vučić N, Cerović S, Vukotić V, Brajušković G.

World J Urol. 2017 Apr;35(4):613-624. doi: 10.1007/s00345-016-1917-0. Epub 2016 Aug 6.

PMID:
27498138
13.

Quality of life in patients with myotonic dystrophy type 2.

Rakocevic Stojanovic V, Peric S, Paunic T, Pesovic J, Vujnic M, Peric M, Nikolic A, Lavrnic D, Savic Pavicevic D.

J Neurol Sci. 2016 Jun 15;365:158-61. doi: 10.1016/j.jns.2016.04.018. Epub 2016 Apr 16.

PMID:
27206898
14.

Multidimensional aspects of pain in myotonic dystrophies.

Peric M, Peric S, Rapajic N, Dobricic V, Savic-Pavicevic D, Nesic I, Radojicic S, Novakovic I, Lavrnic D, Rakocevic-Stojanovic V.

Acta Myol. 2015 Dec;34(2-3):126-32.

15.

Tryptophan Hydroxylase 1 Variant rs1800532 is Associated with Suicide Attempt in Serbian Psychiatric Patients but does not Moderate the Effect of Recent Stressful Life Events.

Karanović J, Ivković M, Jovanović VM, Pantović M, Pavlović-Janković N, Damjanović A, Brajušković G, Romac S, Savić-Pavićević D.

Suicide Life Threat Behav. 2016 Dec;46(6):664-668. doi: 10.1111/sltb.12246. Epub 2016 Apr 2.

PMID:
27037949
16.

Comparison of temporal and stride characteristics in myotonic dystrophies type 1 and 2 during dual-task walking.

Radovanović S, Perić S, Savić-Pavićević D, Dobričić V, Pešović J, Kostić V, Rakočević-Stojanović V.

Gait Posture. 2016 Feb;44:194-9. doi: 10.1016/j.gaitpost.2015.12.020. Epub 2015 Dec 20.

PMID:
27004657
17.

Brain sonography insight into the midbrain in myotonic dystrophy type 2.

Rakocevic-Stojanovic V, Peric S, Savic-Pavicevic D, Pesovic J, Mesaros S, Lavrnic D, Jovanovic Z, Pavlovic A.

Muscle Nerve. 2016 May;53(5):700-4. doi: 10.1002/mus.24927. Epub 2015 Nov 26.

PMID:
26425828
18.

Association between a Genetic Variant in the hsa-miR-146a Gene and Cancer Risk: An Updated Meta-Analysis.

Nikolić ZZ, Savić Pavićević DL, Vučic NL, Romac SP, Brajušković GN.

Public Health Genomics. 2015;18(5):283-98. doi: 10.1159/000438695. Epub 2015 Sep 3.

PMID:
26337564
19.

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.

Brkušanin M, Kosać A, Jovanović V, Pešović J, Brajušković G, Dimitrijević N, Todorović S, Romac S, Milić Rašić V, Savić-Pavićević D.

J Hum Genet. 2015 Nov;60(11):723-8. doi: 10.1038/jhg.2015.104. Epub 2015 Aug 27.

PMID:
26311540
20.

Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population.

Nikolić Z, Savić Pavićević D, Vučić N, Cidilko S, Filipović N, Cerović S, Vukotić V, Romac S, Brajušković G.

Exp Mol Pathol. 2015 Aug;99(1):145-50. doi: 10.1016/j.yexmp.2015.06.009. Epub 2015 Jun 22.

PMID:
26112096
21.

Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.

Milic Rasic V, Vojinovic D, Pesovic J, Mijalkovic G, Lukic V, Mladenovic J, Kosac A, Novakovic I, Maksimovic N, Romac S, Todorovic S, Savic Pavicevic D.

Balkan J Med Genet. 2015 Apr 10;17(2):25-35. doi: 10.2478/bjmg-2014-0071. eCollection 2014 Dec.

22.

Joint effect of ADARB1 gene, HTR2C gene and stressful life events on suicide attempt risk in patients with major psychiatric disorders.

Karanović J, Šviković S, Pantović M, Durica S, Brajušković G, Damjanović A, Jovanović V, Ivković M, Romac S, Savić Pavićević D.

World J Biol Psychiatry. 2015 Jun;16(4):261-71. doi: 10.3109/15622975.2014.1000374. Epub 2015 Mar 2.

PMID:
25732952
23.

Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival.

Sarajlija A, Kisic-Tepavcevic D, Nikolic Z, Savic Pavicevic D, Obradovic S, Djuric M, Pekmezovic T.

Neuroepidemiology. 2015;44(1):1-5. doi: 10.1159/000369494. Epub 2015 Jan 7.

PMID:
25571926
24.

Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2.

Peric S, Mandic-Stojmenovic G, Stefanova E, Savic-Pavicevic D, Pesovic J, Ilic V, Dobricic V, Basta I, Lavrnic D, Rakocevic-Stojanovic V.

J Neurol. 2015 Jan;262(1):142-8. doi: 10.1007/s00415-014-7545-y. Epub 2014 Oct 28.

PMID:
25346064
25.

Association between genetic variant in hsa-miR-146a gene and prostate cancer progression: evidence from Serbian population.

Nikolić ZZ, Savić Pavićević DLj, Vukotić VD, Tomović SM, Cerović SJ, Filipović N, Romac SP, Brajušković GN.

Cancer Causes Control. 2014 Nov;25(11):1571-5. doi: 10.1007/s10552-014-0452-9. Epub 2014 Aug 2.

PMID:
25084752
26.

Assessment of association between common variants at 17q12 and prostate cancer risk-evidence from Serbian population and meta--analysis.

Nikolić ZZ, Branković AS, Savić-Pavićević DL, Preković SM, Vukotić VD, Cerović SJ, Filipović NN, Tomović SM, Romac SP, Brajušković GN.

Clin Transl Sci. 2014 Aug;7(4):307-13. doi: 10.1111/cts.12130. Epub 2014 Jan 14.

27.

Endothelial nitric oxide synthase gene polymorphisms and prostate cancer risk in Serbian population.

Branković A, Brajušković G, Nikolić Z, Vukotić V, Cerović S, Savić-Pavićević D, Romac S.

Int J Exp Pathol. 2013 Dec;94(6):355-61. doi: 10.1111/iep.12045. Epub 2013 Sep 2.

28.

Molecular genetics and genetic testing in myotonic dystrophy type 1.

Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S.

Biomed Res Int. 2013;2013:391821. doi: 10.1155/2013/391821. Epub 2013 Mar 18. Review.

29.

Common variants at 8q24 are associated with prostate cancer risk in Serbian population.

Branković AS, Brajušković GN, Mirčetić JD, Nikolić ZZ, Kalaba PB, Vukotić VD, Tomović SM, Cerović SJ, Radojičić ZA, Savić-Pavićević DL, Romac SP.

Pathol Oncol Res. 2013 Jul;19(3):559-69. doi: 10.1007/s12253-013-9617-1. Epub 2013 Mar 28.

PMID:
23532531
30.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.

Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

PMID:
22961002
31.

Retinoic acid induced 1 gene and clinical subtypes of schizophrenia: an association study.

Ivković M, Zamurović L, Jovanović A, Dobričić V, Damjanović A, Savić-Pavićević D, Romac S.

Psychiatry Res. 2011 Jul 30;188(2):297-8. doi: 10.1016/j.psychres.2010.11.018. Epub 2010 Dec 17. No abstract available.

PMID:
21168224
32.

Schizophrenia and apolipoprotein E gene polymorphism in Serbian population.

Kecmanović M, Dobricić V, Dimitrijević R, Keckarević D, Savić-Pavićević D, Keckarević-Marković M, Ivkovic M, Romac S.

Int J Neurosci. 2010 Jul;120(7):502-6. doi: 10.3109/00207451003765956.

PMID:
20583903
33.

Polymorphisms of the prion protein gene (PRNP) in a Serbian population.

Dimitrijević R, Cadez I, Keckarević-Marković M, Keckarević D, Kecmanović M, Dobricić V, Savić-Pavićević D, Brajusković G, Romac S.

Int J Neurosci. 2010 Jul;120(7):496-501. doi: 10.3109/00207451003765907.

PMID:
20583902
34.

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.

Keckarevic-Markovic M, Milic-Rasic V, Mladenovic J, Dackovic J, Kecmanovic M, Keckarevic D, Savic-Pavicevic D, Romac S.

J Peripher Nerv Syst. 2009 Jun;14(2):125-36. doi: 10.1111/j.1529-8027.2009.00222.x.

PMID:
19691535
35.

Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.

Kecmanović M, Ristić AJ, Sokić D, Keckarević-Marković M, Vojvodić N, Ercegovac M, Janković S, Keckarević D, Savić-Pavićević D, Romac S.

Epilepsia. 2009 Jun;50(6):1612-5. doi: 10.1111/j.1528-1167.2008.01937.x. Epub 2008 Dec 15.

36.

HD phenocopies--possible role of Saitohin gene.

Janković N, Kecmanović M, Dimitrijević R, Keckarević Marković M, Dobricić V, Keckarević D, Savić Pavicević D, Romac S.

Int J Neurosci. 2008 Mar;118(3):391-7. doi: 10.1080/00207450701593103.

PMID:
18300012
37.

Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.

Sarić M, Zamurović Lj, Keckarević-Marković M, Keckarević D, Stevanović M, Savić-Pavićević D, Jović J, Romac S.

Clin Genet. 2006 Aug;70(2):170-2. No abstract available.

PMID:
16879202
38.

Human Y-specific STR haplotypes in population of Serbia and Montenegro.

Stevanović M, Dobricić V, Keckarević D, Perović A, Savić-Pavićević D, Keckarević-Marković M, Jovanović A, Romac S.

Forensic Sci Int. 2007 Sep 13;171(2-3):216-21. Epub 2006 Jun 30.

PMID:
16806776

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