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Items: 1 to 50 of 178

1.

Vitamin C/Stearic Acid Hybrid Monolayer Adsorption at Air-Water and Air-Solid Interfaces.

Ahmed I, Haque A, Bhattacharyya S, Patra P, Plaisier JR, Perissinotto F, Bal JK.

ACS Omega. 2018 Nov 20;3(11):15789-15798. doi: 10.1021/acsomega.8b02235. eCollection 2018 Nov 30.

2.

A Pilot Study of Motive Control to Reduce Vengeance Cravings.

Rowe M, Kimmel J Jr, Pavlo AJ, Antunes KD, Bellamy CD, O'Connell MJ, Ocasio L, Desai M, Bal J, Flanagan EH.

J Am Acad Psychiatry Law. 2018 Dec;46(4):486-497. doi: 10.29158/JAAPL.003792-18. Epub 2018 Dec 18.

PMID:
30563910
3.

A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.

Stawczyk-Macieja M, Wertheim-Tysarowska K, Jakubowski R, Szczerkowska-Dobosz A, Krygier M, Wilkowska A, Sawicka J, Nowak W, Bal J, Nowicki R.

Exp Dermatol. 2019 Oct;28(10):1131-1134. doi: 10.1111/exd.13788. Epub 2019 May 20.

PMID:
30240119
4.

Evaluation of cell-surface displayed synthetic consensus dengue EDIII cells as a potent oral vaccine candidate.

Bal J, Jung HY, Nguyen LN, Park J, Jang YS, Kim DH.

Microb Cell Fact. 2018 Sep 14;17(1):146. doi: 10.1186/s12934-018-0994-8.

5.

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM.

Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9.

PMID:
30006928
6.

Innovative Online Educational Portal Improves Disease-Specific Reproductive Knowledge Among Patients With Inflammatory Bowel Disease.

Wierstra K, Sutton R, Bal J, Ismond K, Dieleman L, Halloran B, Kroeker K, Fedorak R, Berga KA, Huang V.

Inflamm Bowel Dis. 2018 Nov 29;24(12):2483-2493. doi: 10.1093/ibd/izy161.

PMID:
29850827
7.

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J.

Am J Med Genet A. 2018 Jul;176(7):1670-1674. doi: 10.1002/ajmg.a.38837. Epub 2018 May 25.

PMID:
29799162
8.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR.

Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30.

9.

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

Landowska A, Rzońca S, Bal J, Gos M.

Dev Period Med. 2018;22(1):22-32. Review. Polish.

10.

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

Landowska A, Rzońca S, Bal J, Gos M.

Dev Period Med. 2018;22(1):14-21. Review. Polish.

11.

Global DNA Methylation in the Chestnut Blight Fungus Cryphonectria parasitica and Genome-Wide Changes in DNA Methylation Accompanied with Sectorization.

So KK, Ko YH, Chun J, Bal J, Jeon J, Kim JM, Choi J, Lee YH, Huh JH, Kim DH.

Front Plant Sci. 2018 Feb 2;9:103. doi: 10.3389/fpls.2018.00103. eCollection 2018.

12.

Comparative immunogenicity of preparations of yeast-derived dengue oral vaccine candidate.

Bal J, Luong NN, Park J, Song KD, Jang YS, Kim DH.

Microb Cell Fact. 2018 Feb 16;17(1):24. doi: 10.1186/s12934-018-0876-0.

13.

Endoscope Holders in Cranial Neurosurgery: Part 2-An International Survey.

Paraskevopoulos D, Constantini S, Bal J, Roth J.

World Neurosurg. 2018 Mar;111:e632-e643. doi: 10.1016/j.wneu.2017.12.142. Epub 2018 Jan 2.

PMID:
29305118
14.

Chitosan-fatty acid interaction mediated growth of Langmuir monolayer and Langmuir-Blodgett films.

Ahmed I, Dildar L, Haque A, Patra P, Mukhopadhyay M, Hazra S, Kulkarni M, Thomas S, Plaisier JR, Dutta SB, Bal JK.

J Colloid Interface Sci. 2018 Mar 15;514:433-442. doi: 10.1016/j.jcis.2017.12.037. Epub 2017 Dec 15.

PMID:
29278799
15.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.

Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.

16.

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

Niepokój K, Rygiel AM, Jurczak P, Kujko AA, Śniegórska D, Sawicka J, Grabarczyk A, Bal J, Wertheim-Tysarowska K.

J Appl Genet. 2018 Feb;59(1):67-72. doi: 10.1007/s13353-017-0416-3. Epub 2017 Nov 18.

PMID:
29151245
17.

Current Surgical Options for Patients with Epilepsy.

Rasul FT, Bal J, Pereira EA, Tisdall M, Themistocleous M, Haliasos N.

Curr Pharm Des. 2017;23(42):6508-6523. doi: 10.2174/1381612823666171031101839. Review.

PMID:
29086680
18.

A Subconscious Interaction between Fixation and Anticipatory Pursuit.

Watamaniuk SNJ, Bal J, Heinen SJ.

J Neurosci. 2017 Nov 22;37(47):11424-11430. doi: 10.1523/JNEUROSCI.2186-17.2017. Epub 2017 Oct 23.

19.

Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.

Grabarczyk AM, Oracz G, Wertheim-Tysarowska K, Kujko AA, Wejnarska K, Kolodziejczyk E, Bal J, Koziel D, Kowalik A, Gluszek S, Rygiel AM.

J Pediatr Gastroenterol Nutr. 2017 Dec;65(6):652-657. doi: 10.1097/MPG.0000000000001767. Erratum in: J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):369.

PMID:
28968289
20.

Epithelial desquamation observed in a phase I study of an oral cathepsin C inhibitor (GSK2793660).

Miller BE, Mayer RJ, Goyal N, Bal J, Dallow N, Boyce M, Carpenter D, Churchill A, Heslop T, Lazaar AL.

Br J Clin Pharmacol. 2017 Dec;83(12):2813-2820. doi: 10.1111/bcp.13398. Epub 2017 Sep 20.

21.

A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.

Kujko AA, Berki DM, Oracz G, Wejnarska K, Antoniuk J, Wertheim-Tysarowska K, Kołodziejczyk E, Bal J, Sahin-Tóth M, Rygiel AM.

Gut. 2017 Sep;66(9):1728-1730. doi: 10.1136/gutjnl-2017-313816. Epub 2017 Mar 3. No abstract available.

22.

Effects of initial moisture content of Korean traditional wheat-based fermentation starter nuruk on microbial abundance and diversity.

Bal J, Yun SH, Yeo SH, Kim JM, Kim BT, Kim DH.

Appl Microbiol Biotechnol. 2017 Mar;101(5):2093-2106. doi: 10.1007/s00253-016-8042-2. Epub 2016 Dec 14.

PMID:
27975136
24.

The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

Wejnarska K, Kolodziejczyk E, Wertheim-Tysarowska K, Dadalski M, Sobczynska-Tomaszewska A, Kierkus J, Bal J, Rygiel AM, Oracz G.

J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):665-670.

PMID:
27673710
25.

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J.

Genes (Basel). 2016 Sep 2;7(9). pii: E59. doi: 10.3390/genes7090059.

26.

Metagenomic analysis of fungal diversity in Korean traditional wheat-based fermentation starter nuruk.

Bal J, Yun SH, Yeo SH, Kim JM, Kim DH.

Food Microbiol. 2016 Dec;60:73-83. doi: 10.1016/j.fm.2016.07.002. Epub 2016 Jul 2.

PMID:
27554148
27.

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W.

Pediatr Neurol. 2016 Jul;60:83-7. doi: 10.1016/j.pediatrneurol.2016.03.011. Epub 2016 Apr 9.

28.

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Charzewska A, Wierzba J, Iżycka-Świeszewska E, Bekiesińska-Figatowska M, Jurek M, Gintowt A, Kłosowska A, Bal J, Hoffman-Zacharska D.

Clin Genet. 2016 Oct;90(4):293-304. doi: 10.1111/cge.12811. Epub 2016 Jun 17. Review.

PMID:
27234264
29.

The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.

Oracz G, Kolodziejczyk E, Sobczynska-Tomaszewska A, Wejnarska K, Dadalski M, Grabarczyk AM, Kierkus J, Woynarowski M, Wertheim-Tysarowska K, Ryzko J, Bal J, Rygiel AM.

Pancreatology. 2016 Jul-Aug;16(4):535-41. doi: 10.1016/j.pan.2016.04.009. Epub 2016 Apr 26.

PMID:
27179762
30.

The use of ultrasound in intracranial tumor surgery.

Bal J, Camp SJ, Nandi D.

Acta Neurochir (Wien). 2016 Jun;158(6):1179-85. doi: 10.1007/s00701-016-2803-7. Epub 2016 Apr 22. Review.

PMID:
27106844
31.

CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.

Rygiel AM, Wojnicka-Stolarz M, Niepokój K, Oracz G, Bal J, Wertheim-Tysarowska K, Gutkowski K.

Dev Period Med. 2015 Jul-Sep;19(3 Pt 2):347-50.

32.

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.

Hoffman-Zacharska D, Mazurczak T, Zajkowski T, Tataj R, Górka-Skoczylas P, Połatyńska K, Kępczyński Ł, Stasiołek M, Bal J.

J Appl Genet. 2016 Aug;57(3):349-55. doi: 10.1007/s13353-015-0331-4. Epub 2016 Feb 23.

PMID:
26906906
33.

The efficacy of fluticasone furoate administered in the morning or evening is comparable in patients with persistent asthma.

Kempsford RD, Bal J, Baines A, Renaux J, Ravindranath R, Thomas PS.

Respir Med. 2016 Mar;112:18-24. doi: 10.1016/j.rmed.2015.12.011. Epub 2016 Jan 12.

34.

Swelling of Poly(n-butyl methacrylate) Films Exposed to Supercritical Carbon Dioxide: A Comparative Study with Polystyrene.

Bal JK, Beuvier T, Vignaud G, Chebil MS, Ben-Jabrallah S, Ahmed I, Grohens Y, Gibaud A.

Langmuir. 2016 Feb 23;32(7):1716-22. doi: 10.1021/acs.langmuir.5b04436. Epub 2016 Feb 5.

PMID:
26809590
35.

Endoscopic repair of cerebrospinal fluid rhinorrhoea.

Sharma SD, Kumar G, Bal J, Eweiss A.

Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Jun;133(3):187-90. doi: 10.1016/j.anorl.2015.05.010. Epub 2016 Jan 6. Review.

36.

Amelioration of junctional epidermolysis bullosa due to exon skipping.

Kowalewski C, Bremer J, Gostynski A, Wertheim-Tysarowska K, Wozniak K, Bal J, Jonkman MF, Pasmooij AM.

Br J Dermatol. 2016 Jun;174(6):1375-1379. doi: 10.1111/bjd.14374. Epub 2016 Mar 6.

PMID:
26708078
37.

Pyrosequencing reveals bacterial diversity in Korean traditional wheat-based nuruk.

Bal J, Yun SH, Choi MS, Yeo SH, Kim JM, Kim DH.

J Microbiol. 2015 Dec;53(12):812-9. doi: 10.1007/s12275-015-5516-3. Epub 2015 Dec 2.

PMID:
26626351
38.

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C.

J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2.

39.
40.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.

Neurol Neurochir Pol. 2015;49(4):258-66. doi: 10.1016/j.pjnns.2015.06.006. Epub 2015 Jun 20.

PMID:
26188943
41.

Stability of Polymer Ultrathin Films (<7 nm) Made by a Top-Down Approach.

Bal JK, Beuvier T, Unni AB, Chavez Panduro EA, Vignaud G, Delorme N, Chebil MS, Grohens Y, Gibaud A.

ACS Nano. 2015 Aug 25;9(8):8184-93. doi: 10.1021/acsnano.5b02381. Epub 2015 Jul 21.

PMID:
26149069
42.

Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.

Milewski M, Gawliński P, Bąk D, Matysiak A, Bal J.

Eur J Cell Biol. 2015 May;94(5):179-89. doi: 10.1016/j.ejcb.2015.02.001. Epub 2015 Feb 20.

PMID:
25773959
43.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Kutkowska-Kaźmierczak A, Niepokój K, Wertheim-Tysarowska K, Giza A, Mordasewicz-Goliszewska M, Bal J, Obersztyn E.

J Appl Genet. 2015 Aug;56(3):329-37. doi: 10.1007/s13353-014-0266-1. Epub 2015 Jan 10.

44.

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

Wertheim-Tysarowska K, Gos M, Sykut-Cegielska J, Bal J.

Dev Period Med. 2015 Oct-Dec;19(4):413-31. Review.

45.

Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.

Rygiel AM, Beer S, Simon P, Wertheim-Tysarowska K, Oracz G, Kucharzik T, Tysarowski A, Niepokój K, Kierkus J, Jurek M, Gawliński P, Poznański J, Bal J, Lerch MM, Sahin-Tóth M, Weiss FU.

Hum Mutat. 2015 Mar;36(3):350-6. doi: 10.1002/humu.22747.

46.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

Charzewska A, Obersztyn E, Hoffman-Zacharska D, Lenart J, Poznański J, Bal J.

Cleft Palate Craniofac J. 2015 Sep;52(5):e161-7. doi: 10.1597/14-030. Epub 2014 Dec 9.

PMID:
25489771
47.

Mycoflora dynamics analysis of Korean traditional wheat-based nuruk.

Bal J, Yun SH, Song HY, Yeo SH, Kim JH, Kim JM, Kim DH.

J Microbiol. 2014 Dec;52(12):1025-9. doi: 10.1007/s12275-014-4620-0. Epub 2014 Nov 29.

PMID:
25467120
48.

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D.

Clin Genet. 2015 Sep;88(3):297-9. doi: 10.1111/cge.12528. Epub 2014 Nov 13. No abstract available.

PMID:
25394356
49.

Densification and depression in glass transition temperature in polystyrene thin films.

Vignaud G, S Chebil M, Bal JK, Delorme N, Beuvier T, Grohens Y, Gibaud A.

Langmuir. 2014 Oct 7;30(39):11599-608. doi: 10.1021/la501639z. Epub 2014 Sep 25.

PMID:
25209183
50.

[Cystic fibrosis emerging therapies].

Nesteruk D, Wertheim-Tysarowska K, Bal J.

Dev Period Med. 2014;18(2):256-65. Polish.

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