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Items: 1 to 50 of 293

1.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska Krystyna H, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E.

Mitochondrion. 2018 Nov 10. pii: S1567-7249(18)30184-3. doi: 10.1016/j.mito.2018.11.004. [Epub ahead of print]

PMID:
30423451
2.

Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing.

Stępień-Wojno M, Ponińska J, Rydzanicz M, Bilińska M, Truszkowska G, Baranowski R, Lutyńska A, Biernacka EK, Stępińska J, Kowalik I, Płoski R, Bilińska ZT.

Pol Arch Intern Med. 2018 Nov 7. doi: 10.20452/pamw.4366. [Epub ahead of print]

3.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB.

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

PMID:
30401461
4.

Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations.

Surmacz R, Franaszczyk M, Pyda M, Płoski R, Bilińska ZT, Bobkowski W.

Pol Arch Intern Med. 2018 Nov 6. doi: 10.20452/pamw.4365. [Epub ahead of print] No abstract available.

5.

Next-generation sequencing analysis of new genotypes appearing during antiviral treatment of chronic hepatitis C reveals that these are selected from pre-existing minor strains.

Iwona BO, Karol P, Kamila CC, Pollak A, Hanna B, Agnieszka P, Andrzej H, Kosińska J, Płoski R, Tomasz L, Marek R.

J Gen Virol. 2018 Dec;99(12):1633-1642. doi: 10.1099/jgv.0.001160. Epub 2018 Nov 5.

PMID:
30394872
6.

Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration.

Kisiel B, Kruszewski R, Juszkiewicz A, Raczkiewicz A, Bachta A, Kłos K, Duda K, Maliborski A, Szymański K, Płoski R, Saracyn M, Niemczyk S, Kisiel K, Tłustochowicz M, Tłustochowicz W.

Rheumatol Int. 2018 Oct 29. doi: 10.1007/s00296-018-4186-y. [Epub ahead of print]

PMID:
30374689
7.

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.

Michalska E, Koppolu A, Dobrzańska A, Płoski R, Gruszfeld D.

Eur J Med Genet. 2018 Oct 22. pii: S1769-7212(18)30586-X. doi: 10.1016/j.ejmg.2018.10.009. [Epub ahead of print]

PMID:
30359777
8.

Paediatric-onset and adult-onset Graves' disease share multiple genetic risk factors.

Kuś A, Radziszewski M, Glina A, Szymański K, Jurecka-Lubieniecka B, Pawlak-Adamska E, Kula D, Wawrusiewicz-Kurylonek N, Kuś J, Miśkiewicz P, Płoski R, Bolanowski M, Daroszewski J, Jarząb B, Bossowski A, Bednarczuk T.

Clin Endocrinol (Oxf). 2018 Oct 25. doi: 10.1111/cen.13887. [Epub ahead of print]

PMID:
30358895
9.

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R.

J Med Genet. 2018 Oct 23. pii: jmedgenet-2018-105527. doi: 10.1136/jmedgenet-2018-105527. [Epub ahead of print]

PMID:
30352868
10.

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R.

Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431. Epub 2018 Oct 17.

PMID:
30329210
11.

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.

Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R.

Eur J Hum Genet. 2018 Sep 25. doi: 10.1038/s41431-018-0254-8. [Epub ahead of print]

PMID:
30254215
12.

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.

Szczałuba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szymańska K, Feleszko W, Włodarski P, Biernacka A, Murcia Pienkowski V, Walczak A, Bargeł E, Królewczyk K, Nowacka A, Stawiński P, Nowis D, Dziembowska M, Płoski R.

Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450. Epub 2018 Oct 11.

PMID:
30238967
13.

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R.

Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277.

14.

Inhibition of protein disulfide isomerase induces differentiation of acute myeloid leukemia cells.

Chlebowska-Tuz J, Sokolowska O, Gaj P, Lazniewski M, Firczuk M, Borowiec K, Sas-Nowosielska H, Bajor M, Malinowska A, Muchowicz A, Ramji K, Stawinski P, Sobczak M, Pilch Z, Rodziewicz-Lurzynska A, Zajac M, Giannopoulos K, Juszczynski P, Basak GW, Plewczynski D, Ploski R, Golab J, Nowis D.

Haematologica. 2018 Nov;103(11):1843-1852. doi: 10.3324/haematol.2018.190231. Epub 2018 Jul 12.

15.

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation.

Kryczka KE, Dzielińska Z, Franaszczyk M, Wojtkowska I, Henzel J, Śpiewak M, Stępińska J, Bilińska ZT, Płoski R, Demkow M.

Am J Case Rep. 2018 Jul 12;19:820-824. doi: 10.12659/AJCR.909601.

16.

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R.

Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2.

PMID:
29938792
17.

Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population.

Saracyn M, Kisiel B, Bachta A, Franaszczyk M, Brodowska-Kania D, Żmudzki W, Szymański K, Sokalski A, Klatko W, Stopiński M, Grochowski J, Papliński M, Goździk Z, Niemczyk L, Bober B, Kołodziej M, Tłustochowicz W, Kamiński G, Płoski R, Niemczyk S.

Sci Rep. 2018 Jun 18;8(1):9284. doi: 10.1038/s41598-018-27382-5.

18.

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.

Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R.

Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13.

PMID:
29899372
19.

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.

Zakrzewska-Koperska J, Franaszczyk M, Bilińska Z, Truszkowska G, Karczmarz M, Szumowski Ł, Zieliński T, Płoski R, Bilińska M.

BMC Med Genet. 2018 Jun 5;19(1):94. doi: 10.1186/s12881-018-0599-4.

20.

Tyrosine kinase inhibitor-induced defects in DNA repair sensitize FLT3(ITD)-positive leukemia cells to PARP1 inhibitors.

Maifrede S, Nieborowska-Skorska M, Sullivan-Reed K, Dasgupta Y, Podszywalow-Bartnicka P, Le BV, Solecka M, Lian Z, Belyaeva EA, Nersesyan A, Machnicki MM, Toma M, Chatain N, Rydzanicz M, Zhao H, Jelinek J, Piwocka K, Sliwinski T, Stoklosa T, Ploski R, Fischer T, Sykes SM, Koschmieder S, Bullinger L, Valent P, Wasik MA, Huang J, Skorski T.

Blood. 2018 Jul 5;132(1):67-77. doi: 10.1182/blood-2018-02-834895. Epub 2018 May 21.

PMID:
29784639
21.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

22.

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

Pesz K, Pienkowski VM, Pollak A, Gasperowicz P, Sykulski M, Kosińska J, Kiszko M, Krzykwa B, Bartnik-Głaska M, Nowakowska B, Rydzanicz M, Sasiadek MM, Płoski R.

Eur J Med Genet. 2018 Oct;61(10):596-601. doi: 10.1016/j.ejmg.2018.03.013. Epub 2018 Apr 3.

PMID:
29621621
23.

Next-generation sequencing analysis of a cluster of hepatitis C virus infections in a haematology and oncology center.

Caraballo Cortes K, Rosińska M, Janiak M, Stępień M, Zagordi O, Perlejewski K, Osuch S, Pawełczyk A, Bukowska-Ośko I, Płoski R, Grabarczyk P, Laskus T, Radkowski M.

PLoS One. 2018 Mar 22;13(3):e0194816. doi: 10.1371/journal.pone.0194816. eCollection 2018.

24.

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R.

J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1.

PMID:
29496980
25.

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease.

Spólnicka M, Zbieć-Piekarska R, Karp M, Machnicki MM, Własiuk P, Makowska Ż, Pięta A, Gambin T, Gasperowicz P, Branicki W, Giannopoulos K, Stokłosa T, Płoski R.

Forensic Sci Int Genet. 2018 May;34:e15-e17. doi: 10.1016/j.fsigen.2018.02.004. Epub 2018 Feb 7. No abstract available.

PMID:
29472117
26.

Modified aging of elite athletes revealed by analysis of epigenetic age markers.

Spólnicka M, Pośpiech E, Adamczyk JG, Freire-Aradas A, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Lareu MV, Phillips C, Płoski R, Żekanowski C, Branicki W.

Aging (Albany NY). 2018 Feb 15;10(2):241-252. doi: 10.18632/aging.101385.

27.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA.

Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.

28.

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Ciara E, Rokicki D, Lazniewski M, Mierzewska H, Jurkiewicz E, Bekiesińska-Figatowska M, Piekutowska-Abramczuk D, Iwanicka-Pronicka K, Szymańska E, Stawiński P, Kosińska J, Pollak A, Pronicki M, Plewczyński D, Płoski R, Pronicka E.

J Hum Genet. 2018 Apr;63(4):473-485. doi: 10.1038/s10038-017-0401-z. Epub 2018 Feb 6.

PMID:
29410512
29.

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R.

J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. Review.

PMID:
29410511
30.

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R.

Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. No abstract available.

PMID:
29389715
31.

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Szymańska E, Szymańska S, Truszkowska G, Ciara E, Pronicki M, Shin YS, Podskarbi T, Kępka A, Śpiewak M, Płoski R, Bilińska ZT, Rokicki D.

Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19. No abstract available.

32.

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies.

Skonieczna K, Styczyński J, Krenska A, Stawiński P, Płoski R, Derwich K, Badowska W, Wysocki M, Grzybowski T.

Pol J Pathol. 2017;68(3):210-217. doi: 10.5114/pjp.2017.71528.

33.

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia.

Jaworowska A, Pastorczak A, Trelinska J, Wypyszczak K, Borowiec M, Fendler W, Sedek L, Szczepanski T, Ploski R, Młynarski W.

Leuk Res. 2018 Feb;65:29-33. doi: 10.1016/j.leukres.2017.12.011. Epub 2018 Jan 2.

PMID:
29304394
34.

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.

Lechowicz U, Pollak A, Frączak A, Rydzanicz M, Stawiński P, Lorens A, Skarżyński PH, Skarżyński H, Płoski R, Ołdak M.

Mol Med Rep. 2018 Jan;17(1):1782-1790. doi: 10.3892/mmr.2017.8064. Epub 2017 Nov 15.

35.

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

Szczałuba K, Szymańska K, Rydzanicz M, Ciara E, Walczak A, Piekutowska-Abramczuk D, Kosińska J, Jacoszek A, Czerska K, Biernacka A, Laure-Kamionowska M, Gasperowicz P, Pronicka E, Płoski R.

Clin Genet. 2018 May;93(5):1107-1108. doi: 10.1111/cge.13133. Epub 2017 Dec 15.

PMID:
29243232
36.

The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis.

Bylińska A, Wilczyńska K, Malejczyk J, Milewski Ł, Wagner M, Jasek M, Niepiekło-Miniewska W, Wiśniewski A, Płoski R, Barcz E, Roszkowski P, Kamiński P, Malinowski A, Wilczyński JR, Radwan P, Radwan M, Kuśnierczyk P, Nowak I.

Mol Genet Genomics. 2018 Jun;293(3):601-613. doi: 10.1007/s00438-017-1404-3. Epub 2017 Dec 12.

37.

TRIM28 and Interacting KRAB-ZNFs Control Self-Renewal of Human Pluripotent Stem Cells through Epigenetic Repression of Pro-differentiation Genes.

Oleksiewicz U, Gładych M, Raman AT, Heyn H, Mereu E, Chlebanowska P, Andrzejewska A, Sozańska B, Samant N, Fąk K, Auguścik P, Kosiński M, Wróblewska JP, Tomczak K, Kulcenty K, Płoski R, Biecek P, Esteller M, Shah PK, Rai K, Wiznerowicz M.

Stem Cell Reports. 2017 Dec 12;9(6):2065-2080. doi: 10.1016/j.stemcr.2017.10.031. Epub 2017 Nov 30.

38.

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Pollak A, Lechowicz U, Murcia Pieńkowski VA, Stawiński P, Kosińska J, Skarżyński H, Ołdak M, Płoski R.

BMC Med Genet. 2017 Dec 2;18(1):142. doi: 10.1186/s12881-017-0499-z.

39.

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.

Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R.

Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23. Review.

PMID:
29174093
40.

Genetic predictors associated with diabetic retinopathy in patients with diabetic foot.

Mrozikiewicz-Rakowska B, Łukawska M, Nehring P, Szymański K, Sobczyk-Kopcioł A, Krzyżewska M, Maroszek P, Płoski R, Czupryniak L.

Pol Arch Intern Med. 2018 Jan 31;128(1):35-42. doi: 10.20452/pamw.4144. Epub 2017 Nov 7.

41.

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population.

Nowak I, Bylińska A, Wilczyńska K, Wiśniewski A, Malinowski A, Wilczyński JR, Radwan P, Radwan M, Barcz E, Płoski R, Motak-Pochrzęst H, Banasik M, Sobczyński M, Kuśnierczyk P.

PLoS One. 2017 Oct 26;12(10):e0186022. doi: 10.1371/journal.pone.0186022. eCollection 2017.

42.

The impact of the recipient and donor interferon lambda-3 polymorphism on the course of HCV infection following liver transplantation.

Wieczorek-Godlewska R, Płoski R, Perkowska-Ptasińska A, Tronina O, Sadowska A, Pacholczyk M, Lisik W, Durlik M.

Clin Exp Hepatol. 2017 Sep;3(3):152-158. doi: 10.5114/ceh.2017.68401. Epub 2017 Jun 12.

43.

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, Kosinska J, Rydzanicz M, Ploski R.

Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080. Epub 2017 Oct 19. No abstract available.

PMID:
29052218
44.

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Rydzanicz M, Stradomska TJ, Jurkiewicz E, Jamroz E, Gasperowicz P, Kostrzewa G, Płoski R, Tylki-Szymańska A.

J Appl Genet. 2017 Nov;58(4):475-480. doi: 10.1007/s13353-017-0414-5. Epub 2017 Oct 18.

PMID:
29047053
45.

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.

Trubicka J, Filipek I, Iwanowski P, Rydzanicz M, Grajkowska W, Piekutowska-Abramczuk D, Chrzanowska K, Karkucińska-Więckowska A, Iwanicka-Pronicka K, Pronicki M, Łastowska M, Płoski R, Dembowska-Bagińska B.

Cancer Genet. 2017 Oct;216-217:79-85. doi: 10.1016/j.cancergen.2017.07.001. Epub 2017 Jul 20.

PMID:
29025599
46.

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R.

Folia Neuropathol. 2017;55(3):214-220. doi: 10.5114/fn.2017.70486. Review.

47.

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

Kalinska-Bienias A, Pollak A, Kowalewski C, Lechowicz U, Stawinski P, Gergont A, Kosinska J, Pronicka E, Kowalski P, Wozniak K, Ploski R.

Am J Med Genet A. 2017 Nov;173(11):3093-3097. doi: 10.1002/ajmg.a.38403. Epub 2017 Sep 25.

PMID:
28944608
48.

Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis.

Kuś A, Arłukowicz-Grabowska M, Szymański K, Wunsch E, Milkiewicz M, Płoski R, Shums Z, Norman GL, Milkiewicz P, Bednarczuk T, Krawczyk M.

J Gastrointestin Liver Dis. 2017 Sep;26(3):245-252. doi: 10.15403/jgld.2014.1121.263.kus.

49.

Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort.

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PMID:
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