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Items: 1 to 50 of 69

1.

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH.

Genes (Basel). 2019 Nov 21;10(12). pii: E959. doi: 10.3390/genes10120959.

2.

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients.

Corti A, Sota R, Dugo M, Calogero RA, Terragni B, Mantegazza M, Franceschetti S, Restelli M, Gasparini P, Lecis D, Chrzanowska KH, Delia D.

Sci Rep. 2019 Jan 24;9(1):651. doi: 10.1038/s41598-018-36912-0.

3.

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.

Martins S, Bohndorf M, Graffmann N, Wruck W, Chrzanowska KH, Adjaye J.

Stem Cell Res. 2019 Jan;34:101372. doi: 10.1016/j.scr.2018.101372. Epub 2018 Dec 27.

4.

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 KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E.

Mitochondrion. 2019 Jul;47:179-187. doi: 10.1016/j.mito.2018.11.004. Epub 2018 Nov 10.

PMID:
30423451
5.

Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

Meijers RWJ, Dzierzanowska-Fangrat K, Zborowska M, Solarska I, Tielemans D, van Turnhout BAC, Driessen G, van der Burg M, van Dongen JJM, Chrzanowska KH, Langerak AW.

J Clin Immunol. 2018 May;38(4):538. doi: 10.1007/s10875-018-0503-1.

6.

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

Trubicka J, Żemojtel T, Hecht J, Falana K, Piekutowska-Abramczuk D, Płoski R, Perek-Polnik M, Drogosiewicz M, Grajkowska W, Ciara E, Moszczyńska E, Dembowska-Bagińska B, Perek D, Chrzanowska KH, Krajewska-Walasek M, Łastowska M.

BMC Cancer. 2017 Apr 4;17(1):239. doi: 10.1186/s12885-017-3211-y.

7.

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH.

Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23.

PMID:
28332779
8.

Nijmegen Breakage Syndrome.

Varon R, Demuth I, Chrzanowska KH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1999 May 17 [updated 2017 Feb 2].

9.

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

Meijers RWJ, Dzierzanowska-Fangrat K, Zborowska M, Solarska I, Tielemans D, van Turnhout BAC, Driessen G, van der Burg M, van Dongen JJM, Chrzanowska KH, Langerak AW.

J Clin Immunol. 2017 Feb;37(2):133-142. doi: 10.1007/s10875-016-0363-5. Epub 2016 Dec 21. Erratum in: J Clin Immunol. 2018 Apr 23;:.

10.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.

PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.

11.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I.

Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.

PMID:
27585961
12.

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

Mroczek M, Kabzińska D, Chrzanowska KH, Pronicki M, Kochański A.

J Appl Genet. 2017 May;58(2):199-203. doi: 10.1007/s13353-016-0368-z. Epub 2016 Oct 10.

13.

Zespół Silvera-Rusella. Część II.

Kalina MA, Tańska A, Marczak-Hałupka A, Chrzanowska KH.

Pediatr Endocrinol Diabetes Metab. 2016 Jun 8;21(3):132-42. doi: 10.18544/PEDM-21.03.0035. Review.

14.

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Krajewska-Walasek M, Jurkiewicz D, Piekutowska-Abramczuk D, Kucharczyk M, Chrzanowska KH, Jezela-Stanek A, Ciara E.

Am J Med Genet A. 2016 Jun;170(6):1647-50. doi: 10.1002/ajmg.a.37641. Epub 2016 Mar 31. No abstract available.

PMID:
27031564
15.

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.

Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH.

Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009. Review.

16.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.

Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28.

PMID:
25724810
17.

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Różdżyńska-Świątkowska A, Hoischen A, Chrzanowska KH.

J Med Genet. 2015 May;52(5):312-6. doi: 10.1136/jmedgenet-2014-102936. Epub 2015 Feb 10.

PMID:
25670821
18.

Polish activity within Orphanet Europe--state of art of database and services.

Jezela-Stanek A, Karczmarewicz D, Chrzanowska KH, Krajewska-Walasek M.

Dev Period Med. 2015 Oct-Dec;19(4):536-41.

19.

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M.

Pediatr Nephrol. 2015 Jun;30(6):931-43. doi: 10.1007/s00467-014-3013-2. Epub 2014 Dec 6.

PMID:
25480730
20.

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M.

Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11.

PMID:
25463315
21.

Immortalization of T-cells is accompanied by gradual changes in CpG methylation resulting in a profile resembling a subset of T-cell leukemias.

Degerman S, Landfors M, Siwicki JK, Revie J, Borssén M, Evelönn E, Forestier E, Chrzanowska KH, Rydén P, Keith WN, Roos G.

Neoplasia. 2014 Jul;16(7):606-15. doi: 10.1016/j.neo.2014.07.001. Epub 2014 Jul 22.

22.

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.

Piątosa B, van der Burg M, Siewiera K, Pac M, van Dongen JJ, Langerak AW, Chrzanowska KH, Bernatowska E.

Cytometry A. 2012 Oct;81(10):835-42. doi: 10.1002/cyto.a.22108. Epub 2012 Jul 31.

23.

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Jezela-Stanek A, Kucharczyk M, Gutkowska A, Pelc M, Ciara E, Chrzanowska KH, Krajewska-Walasek M.

Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8. No abstract available.

PMID:
22391620
24.

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M.

Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Review.

25.

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.

Jezela-Stanek A, Kucharczyk M, Pelc M, Chrzanowska KH, Krajewska-Walasek M.

Am J Med Genet A. 2012 Apr;158A(4):922-6. doi: 10.1002/ajmg.a.34440. Epub 2012 Feb 17. No abstract available.

PMID:
22344789
26.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
27.

[Ocular findings in Nijmegen breakage syndrome].

Grałek M, Chrzanowska KH, Kanigowska K, Kocyła-Karczmarewicz B.

Klin Oczna. 2011;113(4-6):153-5. Polish.

PMID:
21913446
28.

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.

Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M, Ludwig M.

Hum Genet. 2011 May;129(5):513-9. doi: 10.1007/s00439-010-0944-y. Epub 2011 Jan 12.

PMID:
21225285
29.

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.

Chrzanowska KH, Szarras-Czapnik M, Gajdulewicz M, Kalina MA, Gajtko-Metera M, Walewska-Wolf M, Szufladowicz-Wozniak J, Rysiewski H, Gregorek H, Cukrowska B, Syczewska M, Piekutowska-Abramczuk D, Janas R, Krajewska-Walasek M.

J Clin Endocrinol Metab. 2010 Jul;95(7):3133-40. doi: 10.1210/jc.2009-2628. Epub 2010 May 5.

PMID:
20444919
30.

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW.

Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8.

PMID:
20378756
31.

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

Gregorek H, Chrzanowska KH, Dzierzanowska-Fangrat K, Wakulińska A, Pietrucha B, Zapaśnik A, Zborowska M, Pac M, Smółka-Afifi D, Kasztelewicz B, Piekutowska-Abramczuk D, Małdyk J.

Clin Immunol. 2010 Jun;135(3):440-7. doi: 10.1016/j.clim.2010.01.008. Epub 2010 Feb 18.

PMID:
20167538
32.

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.

van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP.

Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008. Epub 2010 Feb 4.

33.

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

Ciara E, Piekutowska-Abramczuk D, Popowska E, Grajkowska W, Barszcz S, Perek D, Dembowska-Bagińska B, Perek-Polnik M, Kowalewska E, Czajńska A, Syczewska M, Czornak K, Krajewska-Walasek M, Roszkowski M, Chrzanowska KH.

Acta Neuropathol. 2010 Mar;119(3):325-34. doi: 10.1007/s00401-009-0608-y. Epub 2009 Nov 12.

PMID:
19908051
34.

Ganglioglioma associated with alterations of NBN gene. A case report.

Grajkowska W, Piekutowska-Abramczuk D, Ciara E, Dembowska-Baginska B, Perek D, Roszkowski M, Daszkiewicz P, Matyja E, Pronicki M, Chrzanowska KH.

Folia Neuropathol. 2009;47(3):278-83.

35.

Oral findings in patients with Nijmegen breakage syndrome: a preliminary study.

Gregorek H, Olczak-Kowalczyk D, Dembowska-Bagińska B, Pietrucha B, Wakulińska A, Gozdowski D, Chrzanowska KH.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Nov;108(5):e39-45. doi: 10.1016/j.tripleo.2009.06.032. Epub 2009 Sep 26.

PMID:
19782616
36.

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

Lins S, Kim R, Krüger L, Chrzanowska KH, Seemanova E, Digweed M.

Gene. 2009 Nov 1;447(1):12-7. doi: 10.1016/j.gene.2009.07.013. Epub 2009 Jul 25.

PMID:
19635536
37.

The frequency of NBN molecular variants in pediatric astrocytic tumors.

Piekutowska-Abramczuk D, Ciara E, Popowska E, Grajkowska W, Dembowska-Bagińska B, Kowalewska E, Czajńska A, Perek-Polnik M, Roszkowski M, Syczewska M, Krajewska-Walasek M, Perek D, Chrzanowska KH.

J Neurooncol. 2010 Jan;96(2):161-8. doi: 10.1007/s11060-009-9958-5. Epub 2009 Jul 22.

PMID:
19629396
38.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.

J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9.

39.

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.

Czornak K, Chughtai S, Chrzanowska KH.

J Appl Genet. 2008;49(4):383-96. doi: 10.1007/BF03195638. Review.

PMID:
19029686
40.

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS).

Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M, Grajkowska W, Chrzanowska KH.

Pediatr Blood Cancer. 2009 Feb;52(2):186-90. doi: 10.1002/pbc.21789.

PMID:
18937313
41.

Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.

Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ, Langerak AW.

J Pathol. 2008 Nov;216(3):337-44. doi: 10.1002/path.2418.

PMID:
18788073
42.

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation.

Du L, Dunn-Walters DK, Chrzanowska KH, Stankovic T, Kotnis A, Li X, Lu J, Eggertsen G, Brittain C, Popov SW, Gennery AR, Taylor AM, Pan-Hammarström Q.

PLoS One. 2008 Jun 25;3(6):e2482. doi: 10.1371/journal.pone.0002482.

43.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.

44.

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

Thierfelder N, Demuth I, Burghardt N, Schmelz K, Sperling K, Chrzanowska KH, Seemanova E, Digweed M.

Eur J Cell Biol. 2008 Feb;87(2):111-21. Epub 2007 Oct 30.

PMID:
17977616
45.

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J.

Hum Mutat. 2006 Sep;27(9):975-6.

PMID:
16917909
46.

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M.

Carcinogenesis. 2007 Jan;28(1):107-11. Epub 2006 Jul 13.

PMID:
16840438
47.

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S.

Eur J Med Genet. 2006 Nov-Dec;49(6):472-80. Epub 2006 May 19.

PMID:
16740422
48.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.

J Med Genet. 2006 May;43(5):e22.

49.

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.

Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E, Gładkowska-Dura M, Małdyk J, Syczewska M, Krajewska-Walasek M, Goryluk-Kozakiewicz B, Bubała H, Gadomski A, Gaworczyk A, Kazanowska B, Kołtan A, Kuźmicz M, Luszawska-Kutrzeba T, Maciejka-Kapuścińska L, Stolarska M, Stefańska K, Sznurkowska K, Wakulińska A, Wieczorek M, Szczepański T, Kowalczyk J.

Int J Cancer. 2006 Mar 1;118(5):1269-74.

50.

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.

Bekiesińska-Figatowska M, Chrzanowska KH, Jurkiewicz E, Wakulińska A, Rysiewskis H, Gładkowska-Dura M, Walecki J.

Acta Neurobiol Exp (Wars). 2004;64(4):503-9.

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