Pesquisa | BVS IEC

1.

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Krygier, Magdalena; Kwarciany, Mariusz; Wasilewska, Krystyna; Pienkowski, Victor Murcia; Krawczynska, Natalia; Zielonka, Daniel; Kosinska, Joanna; Stawinski, Piotr; Rudzinska-Bar, Monika; Boczarska-Jedynak, Magdalena; Karaszewski, Bartosz; Limon, Janusz; Slawek, Jaroslaw; Ploski, Rafal; Rydzanicz, Malgorzata.

Clin Genet ; 95(3): 415-419, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30548255

2.

Coincidence of PTPN22 c.1858CC and FCRL3 -169CC genotypes as a biomarker of preserved residual ß-cell function in children with type 1 diabetes.

Pawlowicz, Malgorzata; Filipów, Rafal; Krzykowski, Grzegorz; Stanislawska-Sachadyn, Anna; Morzuch, Lucyna; Kulczycka, Julia; Balcerska, Anna; Limon, Janusz.

Pediatr Diabetes ; 18(8): 696-705, 2017 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-27615679

3.

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.

Jedrak, Paulina; Krygier, Magdalena; Tonska, Katarzyna; Drozd, Malgorzata; Kaliszewska, Magdalena; Bartnik, Ewa; Soltan, Witold; Sitek, Emilia J; Stanislawska-Sachadyn, Anna; Limon, Janusz; Slawek, Jaroslaw; Wegrzyn, Grzegorz; Baranska, Sylwia.

Metab Brain Dis ; 32(4): 1237-1247, 2017 08.

Artigo em Inglês | MEDLINE | ID: mdl-28508341

4.

When do paediatric patients with familial hypercholesterolemia need statin therapy?

Hennig, Matylda; Brandt, Agnieszka; Bautembach-Minkowska, Joanna; Swieton, Dominik; Mickiewicz, Agnieszka; Chmara, Magdalenia; Wasag, Bartosz; Kaminska, Ewa; Balcerska, Anna; Limon, Janusz; Rynkiewicz, Andrzej; Gruchala, Marcin; Mysliwiec, Malgorzata.

Dev Period Med ; 21(1): 43-50, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-28551692

5.

A simple modification to improve the accuracy of methylation-sensitive restriction enzyme quantitative polymerase chain reaction.

Krygier, Magdalena; Podolak-Popinigis, Justyna; Limon, Janusz; Sachadyn, Pawel; Stanislawska-Sachadyn, Anna.

Anal Biochem ; 500: 88-90, 2016 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-26853744

6.

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.

Hogendorf, Anna; Lipska-Zietkiewicz, Beata S; Szadkowska, Agnieszka; Borowiec, Maciej; Koczkowska, Magdalena; Trzonkowski, Piotr; Drozdz, Izabela; Wyka, Krystyna; Limon, Janusz; Mlynarski, Wojciech.

Pediatr Diabetes ; 17(2): 153-9, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25403779

7.

Diagnosis of Mastocytosis in Children and Adults in Daily Clinical Practice.

Lange, Magdalena; Lugowska-Umer, Hanna; Niedoszytko, Marek; Wasag, Bartosz; Limon, Janusz; Zawrocki, Anton; Nedoszytko, Boguslaw; Sobjanek, Michal; Plata-Nazar, Katarzyna; Nowicki, Roman.

Acta Derm Venereol ; 96(3): 292-7, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26270728

8.

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

Kaczorowska, Ewa; Zimowski, Janusz; Cichon-Kotek, Monika; Mrozinska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Zietkiewicz, Beata S.

Dev Period Med ; 20(4): 273-278, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-28216480

9.

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.

Ronowicz, Anna; Janaszak-Jasiecka, Anna; Skokowski, Jaroslaw; Madanecki, Piotr; Bartoszewski, Rafal; Balut, Magdalena; Seroczynska, Barbara; Kochan, Kinga; Bogdan, Adam; Butkus, Malgorzata; Peksa, Rafal; Ratajska, Magdalena; Kuzniacka, Alina; Wasag, Bartosz; Gucwa, Magdalena; Krzyzanowski, Maciej; Jaskiewicz, Janusz; Jankowski, Zbigniew; Forsberg, Lars; Ochocka, J Renata; Limon, Janusz; Crowley, Michael R; Buckley, Patrick G; Messiaen, Ludwine; Dumanski, Jan P; Piotrowski, Arkadiusz.

Hum Mutat ; 36(11): 1088-99, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26219265

10.

Dwarfism in art.

Limon, Janusz.

Dev Period Med ; 19(4): 403-6, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26982747

11.

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

Borun, Pawel; Bartkowiak, Anna; Banasiewicz, Tomasz; Nedoszytko, Boguslaw; Nowakowska, Dorota; Teisseyre, Mikolaj; Limon, Janusz; Lubinski, Jan; Kubaszewski, Lukasz; Walkowiak, Jaroslaw; Czkwianianc, Elzbieta; Siolek, Monika; Kedzia, Agnieszka; Krokowicz, Piotr; Cichy, Wojciech; Plawski, Andrzej.

BMC Med Genet ; 14: 58, 2013 May 30.

Artigo em Inglês | MEDLINE | ID: mdl-23718779

12.

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

Materna-Kiryluk, Anna; Jamsheer, Aleksander; Wisniewska, Katarzyna; Wieckowska, Barbara; Limon, Janusz; Borszewska-Kornacka, Maria; Sawulicka-Oleszczuk, Henryka; Szwalkiewicz-Warowicka, Ewa; Latos-Bielenska, Anna.

BMC Pediatr ; 13: 26, 2013 Feb 19.

Artigo em Inglês | MEDLINE | ID: mdl-23421878

13.

Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics.

Koczkowska, Magdalena; Lipska, Beata S; Grzeszewska, Joanna; Limon, Janusz; Biernat, Wojciech; Jassem, Jacek.

Pol J Pathol ; 64(1): 59-63, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23625602

14.

Conversion of epidermal growth factor receptor 2 and hormone receptor expression in breast cancer metastases to the brain.

Duchnowska, Renata; Dziadziuszko, Rafal; Trojanowski, Tomasz; Mandat, Tomasz; Och, Waldemar; Czartoryska-Arlukowicz, Bogumila; Radecka, Barbara; Olszewski, Wojciech; Szubstarski, Franciszek; Kozlowski, Wojciech; Jarosz, Bozena; Rogowski, Wojciech; Kowalczyk, Anna; Limon, Janusz; Biernat, Wojciech; Jassem, Jacek.

Breast Cancer Res ; 14(4): R119, 2012 Aug 16.

Artigo em Inglês | MEDLINE | ID: mdl-22898337

15.

Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

Ratajska, Magdalena; Antoszewska, Ewelina; Piskorz, Anna; Brozek, Izabela; Borg, Åke; Kusmierek, Hanna; Biernat, Wojciech; Limon, Janusz.

Breast Cancer Res Treat ; 131(1): 89-97, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21344236

16.

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.

Wierzba, Jolanta; Gil-Rodríguez, María Concepción; Polucha, Anna; Puisac, Beatriz; Arnedo, María; Teresa-Rodrigo, María Esperanza; Winnicka, Dorota; Hegardt, Fausto G; Ramos, Feliciano J; Limon, Janusz; Pié, Juan.

BMC Med Genet ; 13: 43, 2012 Jun 07.

Artigo em Inglês | MEDLINE | ID: mdl-22676896

17.

The outcome and predictive factors of sunitinib therapy in advanced gastrointestinal stromal tumors (GIST) after imatinib failure - one institution study.

Rutkowski, Piotr; Bylina, Elzbieta; Klimczak, Anna; Switaj, Tomasz; Falkowski, Slawomir; Kroc, Jacek; Lugowska, Iwona; Brzeskwiniewicz, Magdalena; Melerowicz, Wojciech; Osuch, Czeslaw; Mierzejewska, Ewa; Wasielewski, Kacper; Wozniak, Agnieszka; Grzesiakowska, Urszula; Nowecki, Zbigniew I; Siedlecki, Janusz A; Limon, Janusz.

BMC Cancer ; 12: 107, 2012 Mar 22.

Artigo em Inglês | MEDLINE | ID: mdl-22439647

18.

Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea.

Ronowicz, Anna; Brzeskwiniewicz, Magdalena; Madanecki, Piotr; Buckley, Patrick G; Orlowska, Ewa; Renata Ochocka, J; Limon, Janusz; Piotrowski, Arkadiusz.

Anal Biochem ; 426(2): 91-3, 2012 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-22504026

19.

Routine brush cytology and fluorescence in situ hybridization for assessment of pancreatobiliary strictures.

Smoczynski, Marian; Jablonska, Anna; Matyskiel, Anita; Lakomy, Joanna; Dubowik, Michal; Marek, Iwona; Biernat, Wojciech; Limon, Janusz.

Gastrointest Endosc ; 75(1): 65-73, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22078103

20.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Kowalczyk, Katarzyna; Bartnik-Glaska, Magdalena; Smyk, Marta; Plaskota, Izabela; Bernaciak, Joanna; Kedzior, Marta; Wisniowiecka-Kowalnik, Barbara; Deperas, Marta; Domaradzka, Justyna; Luszczek, Alicja; Dutkiewicz, Daria; Kozar, Agata; Grad, Dominika; Niemiec, Magdalena; Ziemkiewicz, Kamila; Magdziak, Róza; Braun-Walicka, Natalia; Barczyk, Artur; Geremek, Maciej; Castañeda, Jennifer; Kutkowska-Kazmierczak, Anna; Wlasienko, Pawel; Jakubów-Durska, Krystyna; Debska, Marzena; Kucinska-Chahwan, Anna; Kozlowski, Szymon; Mikulska, Boyana; Issat, Tadeusz; Roszkowski, Tomasz; Nawara-Baran, Agnieszka; Runge, Agata; Jakubiuk-Tomaszuk, Anna; Kruczek, Anna; Kostyk, Ewa; Pietras, Grzegorz; Limon, Janusz; Zwolinski, Jerzy; Ochman, Karolina; Szajner, Tomasz; Wegrzyn, Piotr; Wielgos, Miroslaw; Sasiadek, Maria; Obersztyn, Ewa; Nowakowska, Beata Anna.

Genes (Basel) ; 13(4)2022 04 14.

Artigo em Inglês | MEDLINE | ID: mdl-35456496

BVS IEC

Instituto Evandro Chagas

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