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Items: 1 to 50 of 58

1.

Transcriptomic Biomarkers for Huntington's Disease: Are Gene Expression Signatures in Whole Blood Reliable Biomarkers?

Zadel M, Maver A, Kovanda A, Peterlin B.

OMICS. 2018 Apr;22(4):283-294. doi: 10.1089/omi.2017.0206.

PMID:
29652574
2.

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM.

Ann Neurol. 2018 Feb 21. doi: 10.1002/ana.25188. [Epub ahead of print]

PMID:
29466837
3.

Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.

Lavtar P, Rudolf G, Maver A, Hodžić A, Starčević Čizmarević N, Živković M, Šega Jazbec S, Klemenc Ketiš Z, Kapović M, Dinčić E, Raičević R, Sepčić J, Lovrečić L, Stanković A, Ristić S, Peterlin B.

PLoS One. 2018 Jan 11;13(1):e0190601. doi: 10.1371/journal.pone.0190601. eCollection 2018.

4.

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Likar T, Hasanhodžić M, Teran N, Maver A, Peterlin B, Writzl K.

PLoS One. 2018 Jan 2;13(1):e0188578. doi: 10.1371/journal.pone.0188578. eCollection 2018.

5.

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.

Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B.

Clin Genet. 2018 May;93(5):1057-1062. doi: 10.1111/cge.13203. Epub 2018 Mar 23.

PMID:
29286531
6.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC.

Am J Hum Genet. 2017 Nov 2;101(5):844-855. doi: 10.1016/j.ajhg.2017.09.017.

PMID:
29100094
7.

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.

Volk M, Maver A, Hodžić A, Lovrečić L, Peterlin B.

OMICS. 2017 Oct;21(10):565-570. doi: 10.1089/omi.2017.0123.

8.

Analysis of blood-based gene expression in idiopathic Parkinson disease.

Shamir R, Klein C, Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D.

Neurology. 2017 Oct 17;89(16):1676-1683. doi: 10.1212/WNL.0000000000004516. Epub 2017 Sep 15.

PMID:
28916538
9.

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Bergant G, Maver A, Lovrecic L, Čuturilo G, Hodzic A, Peterlin B.

Genet Med. 2018 Mar;20(3):303-312. doi: 10.1038/gim.2017.142. Epub 2017 Sep 14.

PMID:
28914264
10.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.

PMID:
28726266
11.

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

Allegrini D, Penco S, Pece A, Autelitano A, Montesano G, Paci S, Montanari C, Maver A, Peterlin B, Damante G, Rossetti L.

BMC Ophthalmol. 2017 Jun 28;17(1):107. doi: 10.1186/s12886-017-0499-y.

12.

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

Maver A, Lavtar P, Ristić S, Stopinšek S, Simčič S, Hočevar K, Sepčić J, Drulović J, Pekmezović T, Novaković I, Alenka H, Rudolf G, Šega S, Starčević-Čizmarević N, Palandačić A, Zamolo G, Kapović M, Likar T, Peterlin B.

Sci Rep. 2017 Jun 16;7(1):3715. doi: 10.1038/s41598-017-03536-9.

13.

Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion.

Müller A, Wagner J, Hodžić A, Maver A, Škrlec I, Heffer M, Zibar L, Peterlin B.

Croat Med J. 2016 Dec 31;57(6):566-571.

14.

Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility.

Hodžić A, Ristanović M, Zorn B, Tulić C, Maver A, Novaković I, Plaseska-Karanfilska D, Peterlin B.

Andrology. 2017 Jan;5(1):70-74. doi: 10.1111/andr.12295. Epub 2016 Nov 3.

15.

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Maver A, Lovrecic L, Volk M, Rudolf G, Writzl K, Blatnik A, Hodzic A, Borut P.

Genet Med. 2016 Nov;18(11):1102-1110. doi: 10.1038/gim.2016.22. Epub 2016 Mar 31. Erratum in: Genet Med. 2016 Jul;18(7):752.

PMID:
27031083
16.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr.

Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8.

PMID:
26841933
17.

Common chitotriosidase duplication gene polymorphism and clinical outcome status in sarcoidosis.

Harlander M, Maver A, Terčelj M, Salobir B, Peterlin B.

Sarcoidosis Vasc Diffuse Lung Dis. 2015 Sep 14;32(3):194-9.

PMID:
26422563
18.

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.

Blinc A, Maver A, Rudolf G, Tasič J, Pretnar Oblak J, Berden P, Peterlin B.

Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21. doi: 10.1016/j.ejvs.2015.08.003. Epub 2015 Sep 26. Review.

19.

Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells.

Burnik Papler T, Vrtacnik Bokal E, Maver A, Kopitar AN, Lovrečić L.

PLoS One. 2015 Aug 27;10(8):e0136473. doi: 10.1371/journal.pone.0136473. eCollection 2015.

20.

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, Kapović M, Peterlin B.

Am J Med Genet A. 2015 Jun;167(6):1426-7. doi: 10.1002/ajmg.a.36974. Epub 2015 Apr 21.

PMID:
25899858
21.

No specific gene expression signature in human granulosa and cumulus cells for prediction of oocyte fertilisation and embryo implantation.

Burnik Papler T, Vrtacnik Bokal E, Lovrecic L, Kopitar AN, Maver A.

PLoS One. 2015 Mar 13;10(3):e0115865. doi: 10.1371/journal.pone.0115865. eCollection 2015.

22.

Specific gene expression differences in cumulus cells as potential biomarkers of pregnancy.

Burnik Papler T, Vrtačnik Bokal E, Maver A, Lovrečić L.

Reprod Biomed Online. 2015 Apr;30(4):426-33. doi: 10.1016/j.rbmo.2014.12.011. Epub 2015 Jan 12.

PMID:
25682305
23.

Putative mesenchymal stem cells isolated from adult human ovaries.

Stimpfel M, Cerkovnik P, Novakovic S, Maver A, Virant-Klun I.

J Assist Reprod Genet. 2014 Aug;31(8):959-74. doi: 10.1007/s10815-014-0254-8. Epub 2014 May 21.

24.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

25.

Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy.

Maver A, Hristovski D, Rindflesch TC, Peterlin B.

Biomed Res Int. 2013;2013:848952. doi: 10.1155/2013/848952. Epub 2013 Nov 24.

26.

Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

Volk M, Maver A, Lovrečić L, Juvan P, Peterlin B.

PLoS One. 2013 Sep 16;8(9):e74184. doi: 10.1371/journal.pone.0074184. eCollection 2013.

27.

Integrative 'omic' approach towards understanding the nature of human diseases.

Peterlin B, Maver A.

Balkan J Med Genet. 2012 Dec;15(Suppl):45-50. doi: 10.2478/v10034-012-0018-7.

28.

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility.

Hodžić A, Ristanović M, Zorn B, Tulić C, Maver A, Novaković I, Peterlin B.

PLoS One. 2013;8(3):e59220. doi: 10.1371/journal.pone.0059220. Epub 2013 Mar 18.

29.

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, Kapović M, Peterlin B.

Am J Med Genet A. 2012 Mar;158A(3):659-63. doi: 10.1002/ajmg.a.35201. Epub 2012 Feb 7.

PMID:
22315192
30.

The insulin-like growth factor 2 receptor gene Gly1619Arg polymorphism and idiopathic recurrent spontaneous abortion.

Pereza N, Ostojić S, Volk M, Maver A, Kapović M, Peterlin B.

J Matern Fetal Neonatal Med. 2012 Apr;25(4):429-31. doi: 10.3109/14767058.2011.581713. Epub 2011 Jun 1.

PMID:
21627551
31.

Positional integratomic approach in identification of genomic candidate regions for Parkinson's disease.

Maver A, Peterlin B.

Bioinformatics. 2011 Jul 15;27(14):1971-8. doi: 10.1093/bioinformatics/btr313. Epub 2011 May 19.

PMID:
21596793
32.

Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients.

Maver A, Medica I, Salobir B, Tercelj M, Peterlin B.

Genet Mol Res. 2010 Jan 12;9(1):58-68. doi: 10.4238/vol9-1gmr682.

33.

Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population.

Maver A, Medica I, Salobir B, Tercelj M, Peterlin B.

Dis Markers. 2009;27(6):295-302. doi: 10.3233/DMA-2009-0675.

34.

Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies.

Maver A, Medica I, Peterlin B.

Med Sci Monit. 2009 Dec;15(12):SR22-8. Review.

PMID:
19946248
35.

Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-activated receptor gamma coactivator-1 alpha/Gly482Ser polymorphism in patients with sarcoidosis.

Maver A, Medica I, Salobir B, Tercelj-Zorman M, Sabovic M, Petrovic D, Peterlin B.

Sarcoidosis Vasc Diffuse Lung Dis. 2008 Sep;25(1):29-35.

PMID:
19070258
36.

Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis.

Medica I, Kastrin A, Maver A, Peterlin B.

J Hum Genet. 2007;52(10):836-47. Epub 2007 Sep 4.

PMID:
17768594
37.

Polymorphisms in genes coding for mediators in the interleukin cascade and their effect on susceptibility to sarcoidosis in the Slovenian population.

Maver A, Medica I, Salobir B, Sabovic M, Tercelj M, Peterlin B.

Int J Mol Med. 2007 Sep;20(3):385-90.

PMID:
17671745
38.

Observational multicentric trial performed with doxazosin: evaluation of sexual effects on patients with diagnosed benign prostatic hyperplasia.

De Rose AF, Carmignani G, Corbu C, Giglio M, Traverso P, Naselli A, Belgrano E, Catuogno C, Fontana D, Maver A, Mirone V, Muzzonigro G, Di Trapani D, Bonini F.

Urol Int. 2002;68(2):95-8.

PMID:
11834898
39.

Relationship of inhibin serum level to bioactive and immunoreactive FSH in oligospermic and azoospermic patients.

Vicari E, Calogero AE, Burrello N, Moncada ML, Maver A, Orlando C, Vitali G, Bonaffini F, D'Agata R.

Andrologia. 1994 May-Jun;26(3):177-84.

PMID:
8085671
40.
41.

Ceruloplasmin and transferrin in human seminal plasma: are they an index of seminiferous tubular function?

Orlando C, Caldini AL, Barni T, Wood WG, Strasburger CJ, Natali A, Maver A, Forti G, Serio M.

Fertil Steril. 1985 Feb;43(2):290-4.

PMID:
3917951
42.

"9 + 0" immotile spermatozoa in an infertile man.

Baccetti B, Burrini AG, Maver A, Pallini V, Renieri T.

Andrologia. 1979;11(6):437-43.

PMID:
161145
43.

[Relations between pituitary-gonadal function and testicular histological pattern in cryptorchidism in boys].

Cacciari E, Cicognani A, Maver A, Pirazzoli P, Zappulla F, Tassoni P, Bernardi F, Salardi S.

Minerva Pediatr. 1977 Feb 28;29(2):97-104. Italian. No abstract available.

PMID:
15206
44.

[Treatment with estradiol valerianate of patients with dysendocrine bladder diseases in post-menopausal age and in old age].

Zanardi E, Di Fabio C, Maver A.

Minerva Ginecol. 1974 Aug;28(8):502-10. Italian. No abstract available.

PMID:
4418078
45.

[Medical treatment of fibroadenomatous hypertrophy of the prostate with a new plant substance].

Maver A.

Minerva Med. 1972 May 16;63(37):2126-36. Italian. No abstract available.

PMID:
4113157
46.

[Urinary complications in traumatic lesions of the pelvis].

Campanacci M, Maver A, Bachiocco R, Liberati G.

Chir Organi Mov. 1971;60(1):33-56. Italian. No abstract available.

PMID:
5146040
47.

[The use of methampicillin in the treatment of urinary tract infections].

Sasdelli M, Fusaroli M, Maver A, Stallone C.

Minerva Urol. 1970 May-Jun;22(3):112-20. Italian. No abstract available.

PMID:
5492645
48.

[Magnesium balance in terminal chronic uremia].

Corrado F, Zucchelli P, Fusaroli M, Sasdelli M, Maver A.

Minerva Nefrol. 1969 Nov-Dec;16(6):403-6. Italian. No abstract available.

PMID:
5403802
49.

[In vitro studies on steroid metabolism in human fetal testes during various stages of development].

Jasonni VM, Savorelli M, Maver A, Melega C, Flamigni C.

Riv Ital Ginecol. 1969 Oct;53(10):573-86. Italian. No abstract available.

PMID:
5408441
50.

[Measurement of central venous pressure in the control of patients with acute renal failure].

Zucchelli P, Sasdelli M, Maver A, Fusaroli M.

G Clin Med. 1969 Aug;50(8):699-706. Italian. No abstract available.

PMID:
5364417

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