Lipska, Beata S. : rechercher sur Z-Library

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1

Dent disease in Poland: what we have learned so far?

Zaniew, Marcin, Mizerska-Wasiak, Małgorzata, Załuska-Leśniewska, Iga, Adamczyk, Piotr, Kiliś-Pstrusińska, Katarzyna, Haliński, Adam, Zawadzki, Jan, Lipska-Ziętkiewicz, Beata S., Pawlaczyk, Krzysztof,

Journal:

International Urology and Nephrology

Année:

2017

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2017

2

c.1810C>T Polymorphism ofNTRK1Gene is associated with reduced Survival in Neuroblastoma Patients

Beata S Lipska, Elżbieta Drożynska, Paola Scaruffi, Gian Paolo Tonini, Ewa Iżycka-Świeszewska, Szymon Ziętkiewicz, Anna Balcerska, Danuta Perek, Alicja Chybicka, Wojciech Biernat, Janusz Limon

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 497 KB

english, 2009

3

The effect of vitamin B supplementation on homocysteine metabolism and clinical state of patients with chronic epilepsy treated with carbamazepine and valproic acid

Anna Bochyńska, Wanda Lipczyńska-Łojkowska, Magdalena Gugała-Iwaniuk, Waldemar Lechowicz, Magdalena Restel, Ałła Graban, Beata Lipska, Danuta Ryglewicz

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 219 KB

english, 2012

4

Spectrum ofNIPBLgene mutations in Polish patients with Cornelia de Lange syndrome

Alina Kuzniacka, Jolanta Wierzba, Magdalena Ratajska, Beata S. Lipska, Magdalena Koczkowska, Monika Malinowska, Janusz Limon

Journal:

Journal of Applied Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 165 KB

english, 2013

5

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

Beata S. Lipska, Irena Balasz-Chmielewska, Lucyna Morzuch…

Journal:

Journal of Applied Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 190 KB

english, 2013

6

On the significance of germline cytogenetic rearrangements atMYCN locusin neuroblastoma

Lipska, Beata S, Koczkowska, Magdalena, Wierzba, Jolanta, Ploszynska, Anna, Iliszko, Mariola, Izycka-Swieszewska, Ewa, Adamkiewicz-Drozynska, Elzbieta, Limon, Janusz

Journal:

Molecular Cytogenetics

Année:

2013

Langue:

english

Fichier:

PDF, 616 KB

english, 2013

7

Współistnienie zespołów Edwardsa i Klinefeltera – opis przypadku i przegląd literatury

Lipska, Beata S., Wierzba, Jolanta, Gintowt, Aleksandra, Limon, Janusz

Journal:

Pediatria Polska

Année:

2009

Langue:

polish

Fichier:

PDF, 278 KB

polish, 2009

8

Infekcyjne zapalenie wsierdzia

Aleszewicz-Baranowska, Janina, Ulewicz-Filipowicz, Jolanta, Lipska, Beata S., Balcerska, Anna, Ereciński, Jan

Journal:

Pediatria Polska

Année:

2007

Langue:

polish

Fichier:

PDF, 300 KB

polish, 2007

9

Genotype–phenotype associations in WT1 glomerulopathy

Lipska, Beata S, Ranchin, Bruno, Iatropoulos, Paraskevas, Gellermann, Jutta, Melk, Anette, Ozaltin, Fatih, Caridi, Gianluca, Seeman, Tomas, Tory, Kalman, Jankauskiene, Augustina, Zurowska, Aleksandra,

Journal:

Kidney International

Année:

2014

Fichier:

PDF, 918 KB

2014

10

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

Lipska, Beata S, Iatropoulos, Paraskevas, Maranta, Ramona, Caridi, Gianluca, Ozaltin, Fatih, Anarat, Ali, Balat, Ayse, Gellermann, Jutta, Trautmann, Agnes, Erdogan, Ozlem, Saeed, Bassam, Emre, Sevinc,

Journal:

Kidney International

Année:

2013

Fichier:

PDF, 285 KB

2013

11

Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)

Wierzba, Jolanta, Kuzniacka, Alina, Ratajska, Magdalena, Lipska, Beata Stefania, Kardas, Iwona, Iliszko, Mariola, Limon, Janusz

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 117 KB

english, 2011

12

Mild phenotype of a large partial 13q trisomy

Krygier, Magdalena, Lipska-Zietkiewicz, Beata S., Koczkowska, Magdalena, Wierzba, Jolanta, Limon, Janusz

Journal:

Clinical Dysmorphology

Année:

2014

Langue:

english

Fichier:

PDF, 299 KB

english, 2014

13

Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p

Jankauskienė, Augustina, Koczkowska, Magdalena, Bjerre, Anna, Bernaciak, Joanna, Schaefer, Franz, Lipska-Ziętkiewicz, Beata S.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 342 KB

english, 2016

14

Glomerulopathy in patients with distal duplication of chromosome 6p

Jankauskienė, Augustina, Koczkowska, Magdalena, Bjerre, Anna, Bernaciak, Joanna, Schaefer, Franz, Lipska-Ziętkiewicz, Beata S.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 796 KB

english, 2016

15

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

Journal:

Pediatric Diabetes

Année:

2016

Langue:

english

Fichier:

PDF, 352 KB

english, 2016

16

The algorithm for Alzheimer risk assessment based onAPOEpromoter polymorphisms

Limon-Sztencel, Anna, Lipska-Ziętkiewicz, Beata S., Chmara, Magdalena, Wasag, Bartosz, Bidzan, Leszek, Godlewska, Beata R., Limon, Janusz

Journal:

Alzheimer's Research & Therapy

Année:

2016

Langue:

english

Fichier:

PDF, 459 KB

english, 2016

17

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Koczkowska, Magdalena, Wierzba, Jolanta, Śmigiel, Robert, Sąsiadek, Maria, Cabała, Magdalena, Ślężak, Ryszard, Iliszko, Mariola, Kardaś, Iwona, Limon, Janusz, Lipska-Ziętkiewicz, Beata S.

Journal:

Journal of Applied Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 371 KB

english, 2017

18

Pierwotna niedoczynność nadnerczy u dzieci

Lipska, Elżbieta, Witkowska-Sędek, Ewelina, Pyrżak, Beata

Journal:

Pediatria Polska

Année:

2016

Langue:

polish

Fichier:

PDF, 350 KB

polish, 2016

19

Errata do artykułu: Pierwotna niedoczynność nadnerczy u dzieci [Pediatr Pol 2016;91(6): 587–594]

Lipska, Elżbieta, Witkowska-Sędek, Ewelina, Pyrżak, Beata

Journal:

Pediatria Polska

Année:

2017

Langue:

polish

Fichier:

PDF, 228 KB

polish, 2017

20

Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

Trautmann, Agnes, Schnaidt, Sven, Lipska-Ziętkiewicz, Beata S., Bodria, Monica, Ozaltin, Fatih, Emma, Francesco, Anarat, Ali, Melk, Anette, Azocar, Marta, Oh, Jun, Saeed, Bassam, Gheisari, Alaleh, Cal

Journal:

Journal of the American Society of Nephrology

Année:

2017

Langue:

english

Fichier:

PDF, 896 KB

english, 2017

21

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma

Magdalena Koczkowska,Beata Stefania Lipska-Ziętkiewicz…

Journal:

Molecular Cytogenetics

Année:

2017

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2017

22

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Lipska-Ziętkiewicz, Beata S., Gellermann, Jutta, Boyer, Olivia, Gribouval, Olivier, Ziętkiewicz, Szymon, Kari, Jameela A., Shalaby, Mohamed A., Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysu

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 3.02 MB

english, 2017

23

Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway

Kuleszo, Dominika, Koczkowska, Magdalena, Lipska-Ziętkiewicz, Beata S., Grajkowska, Wiesława, Adamkiewicz-Drożyńska, Elżbieta, Dembowska-Bagińska, Bożenna, Ciołkowski, Maciej, Iżycka-Świeszewska, Ewa

Journal:

Współczesna Onkologia

Année:

2017

Langue:

english

Fichier:

PDF, 121 KB

english, 2017

24

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

Journal:

Polish Journal of Pathology

Année:

2013

Langue:

english

Fichier:

PDF, 778 KB

english, 2013

25

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

Trautmann, Agnes, Lipska-Ziętkiewicz, Beata S., Schaefer, Franz

Journal:

Frontiers in Pediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 2.05 MB

english, 2018

26

CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

Stańczyk, Małgorzata, Bałasz-Chmielewska, Irena, Lipska-Ziętkiewicz, Beata, Tkaczyk, Marcin

Journal:

Pediatric Nephrology

Année:

2018

Langue:

english

Fichier:

PDF, 440 KB

english, 2018

27

MP033SMARCAL1 SCREENING IN NEPHROTIC SYNDROME - LESSONS FROM PODONET

Lipska-Ziętkiewicz, Beata S., Gellermann, Jutta, Boyer, Olivia, Shalaby, Mohamed Ahmed, Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K., Massella, Laura, Schaefer, Franz

Journal:

Nephrology Dialysis Transplantation

Année:

2016

Langue:

english

Fichier:

PDF, 65 KB

english, 2016

28

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

Kuleszo, Dominika, Lipska-Ziętkiewicz, Beata, Koczkowska, Magdalena, Zakrzewski, Krzysztof, Grajkowska, Wiesława, Roszkowski, Marcin, Dembowska-Bagińska, Bożenna, Czarnota, Katarzyna, Adamkiewicz-Droż

Journal:

Folia Neuropathologica

Année:

2019

Langue:

english

Fichier:

PDF, 430 KB

english, 2019

29

MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME

Lipska-Ziętkiewicz, Beata S., Boyer, Olivia, Gribouval, Olivier, Tabatabaei, Mansoureh, Fourrage, Cecile, Nischke, Patrick, Bole-Feysot, Christine, Rotthier, Annelies, Ozaltin, Fatih, Noris, Marina, S

Journal:

Nephrology Dialysis Transplantation

Année:

2016

Langue:

english

Fichier:

PDF, 64 KB

english, 2016

30

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNetâESPN inherited glomerulopathy working group

Lipska-ZiÄtkiewicz, Beata Stefania, Ozaltin, Fatih, HÃ¶lttÃ¤, Tuula, Bockenhauer, Detlef, BÃ©rody, Sandra, Levtchenko, Elena, Vivarelli, Marina, Webb, Hazel, Haffner, Dieter, Schaefer, Franz, Boyer,

Journal:

European Journal of Human Genetics

Année:

2020

Fichier:

PDF, 662 KB

2020

31

Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

Gawrychowska, Ada, IÅ¼ycka-Åwieszewska, Ewa, Lipska-ZiÄtkiewicz, Beata S., Kuleszo, Dominika, Bautembach-Minkowska, Joanna, Åosin, Marcin, Stefanowicz, Joanna

Journal:

Année:

2020

Fichier:

PDF, 1.76 MB

2020