Krystyna H. Chrzanowska: search on Z-Library

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1

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

Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Ch

Journal:

Year:

2015

Language:

english

File:

PDF, 865 KB

english, 2015

2

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

Krajewska-Walasek, Małgorzata, Jurkiewicz, Dorota, Piekutowska-Abramczuk, Dorota, Kucharczyk, Marzena, Chrzanowska, Krystyna H., Jezela-Stanek, Aleksandra, Ciara, Elżbieta

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 179 KB

english, 2016

3

Nijmegen breakage syndrome (NBS)

Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

File:

PDF, 636 KB

2012

4

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

Jezela-Stanek, Aleksandra, Kucharczyk, Marzena, Gutkowska, Anna, Pelc, Magdalena, Ciara, Elżbieta, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 230 KB

english, 2012

5

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day…

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

6

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Gi

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.49 MB

english, 2004

7

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis

Wolska-Kuśnierz, Beata, Gregorek, Hanna, Chrzanowska, Krystyna, Piątosa, Barbara, Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Pac, Małgorzata, Klaudel-Dreszler, Maja, Kostyuchenko, Larysa, Pasi

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 845 KB

english, 2015

8

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

Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véro

Journal:

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

9

A Regulatory Role for NBS1 in Strand-Specific Mutagenesis during Somatic Hypermutation

Du, Likun, Dunn-Walters, Deborah K., Chrzanowska, Krystyna H., Stankovic, Tanja, Kotnis, Ashwin, Li, Xin, Lu, Jiayi, Eggertsen, Gösta, Brittain, Claire, Popov, Sergey W., Gennery, Andrew R., Taylor, A

Journal:

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

10

Immortalization of T-Cells Is Accompanied by Gradual Changes in CpG Methylation Resulting in a Profile Resembling a Subset of T-Cell Leukemias

Degerman, Sofie, Landfors, Mattias, Siwicki, Jan Konrad, Revie, John, Borssén, Magnus, Evelönn, Emma, Forestier, Erik, Chrzanowska, Krystyna H., Rydén, Patrik, Keith, W. Nicol, Roos, Göran

Journal:

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

11

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

Trubicka, Joanna, Filipek, Iwona, Piotr, Iwanowski, Rydzanicz, Małgorzata, Grajkowska, Wiesława, Piekutowska-Abramczuk, Dorota, Chrzanowska, Krystyna, Karkucińska-Więckowska, Agnieszka, Iwanicka-Proni

Journal:

Cancer Genetics

Year:

2017

Language:

english

File:

PDF, 1.58 MB

english, 2017

12

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

Markus Draaken, Carmen A. Giesen, Anne L. Kesselheim, Ronald Jabs, Stefan Aretz, Monika Kugaudo, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Michael Ludwig

Journal:

Year:

2011

Language:

english

File:

PDF, 425 KB

english, 2011

13

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

Nadja Thierfelder, Ilja Demuth, Nadine Burghardt, Karin Schmelz, Karl Sperling, Krystyna H. Chrzanowska, Eva Seemanova, Martin Digweed

Journal:

European Journal of Cell Biology

Year:

2008

Language:

english

File:

PDF, 375 KB

english, 2008

14

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Pelc, Magdalena, Ciara, Elżbieta, Jezela-Stanek, Aleksandra, Kugaudo, Monika, Cieślikowska, Agata, Jurkiewicz, Dorota, Janeczko, Magdalena, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Skórka

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 263 KB

english, 2017

15

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

Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Ewa Popowska, Małgorzata Gładkowska-Dura, Jadwiga Małdyk, Małgorzata Syczewska, Małgorzata Krajewska-Walasek, Bożenna Goryluk-Kozakiewicz, Halina

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

16

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

Krystyna H Chrzanowska, M. Krajewska-Walasek, J. Kuś, J. Michalkdewicz, D. Maziarka, JK Wolski, L. Brecevic, K. Madaliński

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.41 MB

english, 1998

17

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

Stephan Lins, Ryong Kim, Lars Krüger, Krystyna H. Chrzanowska, Eva Seemanova, Martin Digweed

Journal:

Year:

2009

Language:

english

File:

PDF, 669 KB

english, 2009

18

Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients

Jan Konrad Siwicki, Sofie Degerman, Krystyna H Chrzanowska, Göran Roos

Journal:

Experimental Cell Research

Year:

2003

Language:

english

File:

PDF, 755 KB

english, 2003

19

Severe neonatal spondylometaphyseal dysplasia in two siblings

Malwina Czarny-Ratajczak, Krystyna Chrzanowska, Tadeusz Bieganski, Jerzy Sulko, Dobromila Baranska, Beata Kocyla-Karczmarewicz, Lukasz Kuszel, Lucjusz Jakubowski, Kryspin Niedzielski, Kazimierz Kozlow

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

20

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonag

Journal:

Year:

2018

Language:

english

File:

PDF, 771 KB

english, 2018

21

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer, Karen M Cerosaletti, Krystyna H Chrzanowska, Kathrin Saar, Georg Beckmann, Eva Seemanová, Paul R Cooper, Norma J Nowak, Markus Stumm, Corry M.R We

Journal:

Year:

1998

Language:

english

File:

PDF, 2.04 MB

english, 1998

22

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

Szeliga, Anna, Zysnarska, Aleksandra, Szklarska, Zuzanna, Truszkowska, Ewelina, Podfigurna, Agnieszka, Czyzyk, Adam, Genazzani, Andrea R., Chrzanowska, Krystyna, Meczekalski, Blazej

Journal:

Gynecological Endocrinology

Year:

2019

Language:

english

File:

PDF, 653 KB

english, 2019

23

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

Krzysztof Szczałuba, Hanna Mierzewska, Ewa Obersztyn, Jolanta Tryfon, Monika Bekiesińska-Figatowska, Elzbieta Szczepanik, Krystyna Chrzanowska, Ewa Bocian

Journal:

Journal of Applied Genetics

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

24

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome

Paola Porcedda, Valentina Turinetto, Erica Lantelme, Enrico Fontanella, Krystyna Chrzanowska, Riccardo Ragona, Mario De Marchi, Domenico Delia, Claudia Giachino

Journal:

Year:

2006

Language:

english

File:

PDF, 482 KB

english, 2006

25

Single-nucleotide polymorphisms and reading frame shifts in RNA2 recombinant regions of tobacco rattle virus isolates Slu24 and Deb57

Yin, Zhimin, Pawełkowicz, Magdalena, Michalak, Krystyna, Chrzanowska, Mirosława, Zimnoch-Guzowska, Ewa

Journal:

Archives of Virology

Year:

2014

Language:

english

File:

PDF, 283 KB

english, 2014

26

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

Barbara Piątosa, Mirjam van der Burg, Katarzyna Siewiera, Małgorzata Pac, Jacques J. M. van Dongen, Anton W. Langerak, Krystyna H. Chrzanowska, Ewa Bernatowska

Journal:

Cytometry Part A

Year:

2012

Language:

english

File:

PDF, 502 KB

english, 2012

27

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia

Kanji Matsuura, Timur Balmukhanov, Hiroshi Tauchi, Corry Weemaes, Domique Smeets, Krystyna Chrzanowska, Satoru Endou, Shinnya Matsuura, Kenshi Komatsu

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

28

Oral findings in patients with Nijmegen breakage syndrome: A preliminary study

Hanna Gregorek, Dorota Olczak-Kowalczyk, Bozenna Dembowska-Bagińska, Barbara Pietrucha, Anna Wakulińska, Dariusz Gozdowski, Krystyna H. Chrzanowska

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Year:

2009

Language:

english

File:

PDF, 353 KB

english, 2009

29

The phenotypeâdriven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

JezelaâStanek, Aleksandra, Ciara, ElÅ¼bieta, Jurkiewicz, Dorota, Kucharczyk, Marzena, JÄdrzejowska, Maria, Chrzanowska, Krystyna H., KrajewskaâWalasek, MaÅgorzata, Å»emojtel, Tomasz

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 844 KB

2020

30

Alternative end joining during switch recombination in patients with Ataxia-Telangiectasia

Qiang Pan, Corinne Petit-Frére, Aleksi Lähdesmäki, Hanna Gregorek, Krystyna H. Chrzanowska, Lennart Hammarström

Journal:

European Journal of Immunology

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

31

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

Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

32

Syndromic dystelephalangy

Chrzanowska, Krystyna, Kowalska, Aleksandra, Kozlowski, Kazimierz

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 402 KB

english, 2002

33

New mutations in theATMgene and clinical data of 25 AT patients

Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Petja S. Dimova, Krystyna H. Chrzanowska, Veneta Bojinova, Hanna Gregorek, Luitgard M. Graul-Neumann, Arpad von

Journal:

Year:

2011

Language:

english

File:

PDF, 326 KB

english, 2011

34

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Varon, Raymonda, Seemanova, Eva, Chrzanowska, Krystyna, Hnateyko, Oleg, Piekutowska-Abramczuk, Dorota, Krajewska-Walasek, Malgorzata, Sykut-Cegielska, Jolanta, Sperling, Karl, Reis, André

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

35

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

Hanna Gregorek, Krystyna H. Chrzanowska, Katarzyna Dzierżanowska-Fangrat, Anna Wakulińska, Barbara Pietrucha, Anna Zapaśnik, Magdalena Zborowska, Małgorzata Pac, Dominika Smółka-Afifi, Beata Kasztelew

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 349 KB

english, 2010

36

Biliary Atresia in Children With Aberrations Involving Chromosome 11q

Rurarz, Małgorzata, Czubkowski, Piotr, Chrzanowska, Krystyna, Cielecka-Kuszyk, Joanna, Marczak, Aleksandra, Kamińska, Diana, Pawłowska, Joanna

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2014

Language:

english

File:

PDF, 754 KB

english, 2014

37

A novelTPM2gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej

Journal:

Journal of Applied Genetics

Year:

2017

Language:

english

File:

PDF, 694 KB

english, 2017

38

High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

Chrzanowska, Krystyna H., Szarras-Czapnik, Maria, Gajdulewicz, Maria, Kalina, Maria A., Gajtko-Metera, Małgorzata, Walewska-Wolf, Małgorzata, Szufladowicz-Woźniak, Jolanta, Rysiewski, Henryk, Gregorek

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 146 KB

english, 2010

39

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

Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Duber

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2016

Language:

english

File:

PDF, 691 KB

english, 2016

40

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

Jurkiewicz, Dorota, Kugaudo, Monika, Skórka, Agata, Śmigiel, Robert, Smyk, Marta, Ciara, Elżbieta, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 670 KB

english, 2016

41

Recombinants of PVY Strains Predominate Among Isolates from Potato Crop in Poland

Yin, Zhimin, Chrzanowska, Mirosława, Michalak, Krystyna, Zagórska, Helena, Zimnoch-Guzowska, Ewa

Journal:

Journal of Plant Protection Research

Year:

2012

Language:

english

File:

PDF, 837 KB

english, 2012

42

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome

Habib, Raneem, Neitzel, Heidemarie, Ernst, Aurelie, Wong, John K. L., Goryluk-Kozakiewicz, Bozenna, Gerlach, Antje, Demuth, Ilja, Sperling, Karl, Chrzanowska, Krystyna

Journal:

Molecular Cytogenetics

Year:

2018

Language:

english

File:

PDF, 1.01 MB

english, 2018

43

The ARX mutations: A frequent cause of X-linked mental retardation

Magdalena Nawara, Krzysztof Szczaluba, Karine Poirier, Krystyna Chrzanowska, Jacek Pilch, Jerzy Bal, Jamel Chelly, Tadeusz Mazurczak

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

44

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, Soraia, Bohndorf, Martina, Graffmann, Nina, Wruck, Wasco, Chrzanowska, Krystyna H., Adjaye, James

Journal:

Stem Cell Research

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

45

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Jurkiewicz, Dorota, Skórka, Agata, Ciara, Elżbieta, Kugaudo, Monika, Pelc, Magdalena, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2020

File:

PDF, 394 KB

2020

46

Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells

Jan Konrad Siwicki, Grzegorz Rymkiewicz, Katarzyna Błachnio, Jolanta Rygier, Piotr Kuźniar, Rafał Płoski, Aleksandra Janusz, Henryk Skurzak, Krystyna Chrzanowska, Jan Steffen

Journal:

Leukemia Research

Year:

2008

Language:

english

File:

PDF, 658 KB

english, 2008

47

A further report of Brachmann-de Lange syndrome in two sibs with normal parents

Matgorzata Krajewska-Walasek, Krystyna Chrzanowska, Anna Tylki-Szymańska, Magdalena Bialecka

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 985 KB

english, 1995

48

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

Szeliga, Anna, Zysnarska, Aleksandra, Szklarska, Zuzanna, Truszkowska, Ewelina, Podfigurna, Agnieszka, Czyzyk, Adam, Genazzani, Andrea R., Chrzanowska, Krystyna, Meczekalski, Blazej

Journal:

Gynecological Endocrinology

Year:

2019

File:

PDF, 653 KB

2019

49

Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13–24 as an early and common genetic event

Jan Konrad Siwicki, Mattias Berglund, Jolanta Rygier, Barbara Pienkowska-Grela, Beata Grygalewicz, Sofie Degerman, Irina Golovleva, Krystyna H. Chrzanowska, Svetlana Lagercrantz, Elisabeth Blennow, Gö

Journal:

Genes, Chromosomes and Cancer

Year:

2004

Language:

english

File:

PDF, 555 KB

english, 2004

50

10.1038/74224

Wilkie, Andrew O.M., Tang, Zequn, Elanko, Navaratnam, Walsh, Sinead, Twigg, Stephen R.F., Hurst, Jane A., Wall, Steven A., Chrzanowska, Krystyna H., Maxson, Robert E.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 667 KB

english, 2000

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