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Krystyna Chrzanowska
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21
Krajewska-Walasek, Malgorzata
7
Sperling, Karl
5
Reis, André
5
Stumm, Markus
5
Michalkiewicz, Jacek
5
Gregorek, Hanna
4
Digweed, Martin
4
Weemaes, Corry
4
Schinzel, Albert
4
Seemanova, Eva
4
Varon, Raymonda
3
Wakulinska, Anna
3
Smeets, Dominique
3
Saar, Kathrin
3
Spranger, Stephanie
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All Publications
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2009: Gregorek Hanna; Olczak-Kowalczyk Dorota; Dembowska-Baginska Bozenna; Pietrucha Barbara; Wakulinska Anna; Gozdowski Dariusz; Chrzanowska Krystyna H
Oral findings in patients with Nijmegen breakage syndrome: a preliminary study.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2009;108(5):e39-45.
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2009: Lins Stephan; Kim Ryong; Krüger Lars; Chrzanowska Krystyna H; Seemanova Eva; Digweed Martin
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
Gene 2009;447(1):12-7.
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2009: Grajkowska Wieslawa; Piekutowska-Abramczuk Dorota; Ciara Elzbieta; Dembowska-Baginska Bozena; Perek Danuta; Roszkowski Marcin; Daszkiewicz Pawel; Matyja Ewa; Pronicki Maciej; Chrzanowska Krystyna H
Ganglioglioma associated with alterations of NBN gene. A case report.
Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2009;47(3):278-83.
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2008: Rauch Anita; Thiel Christian T; Schindler Detlev; Wick Ursula; Crow Yanick J; Ekici Arif B; van Essen Anthonie J; Goecke Timm O; Al-Gazali Lihadh; Chrzanowska Krystyna H; Zweier Christiane; Brunner Han G; Becker Kristin; Curry Cynthia J; Dallapiccola Bruno; Devriendt Koenraad; Dörfler Arnd; Kinning Esther; Megarbane André; Meinecke Peter; Semple Robert K; Spranger Stephanie; Toutain Annick; Trembath Richard C; Voss Egbert; Wilson Louise; Hennekam Raoul; de Zegher Francis; Dörr Helmuth-Günther; Reis André
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
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2008: Thierfelder Nadja; Demuth Ilja; Burghardt Nadine; Schmelz Karin; Sperling Karl; Chrzanowska Krystyna H; Seemanova Eva; Digweed Martin
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
European journal of cell biology 2008;87(2):111-21.
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2008: Czornak Kamila; Chughtai Sanaullah; Chrzanowska Krystyna H
Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.
Journal of applied genetics 2008;49(4):383-96.
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2008: 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 Malcolm R; Pan-Hammarström Qiang
A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation.
PloS one 2008;3(6):e2482.
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2007: Krüger Lars; Demuth Ilja; Neitzel Heidemarie; Varon Raymonda; Sperling Karl; Chrzanowska Krystyna H; Seemanova Eva; Digweed Martin
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
Carcinogenesis 2007;28(1):107-11.
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2006: Boyes L; Wallace A J; Krajewska-Walasek M; Chrzanowska K H; Clayton-Smith J; Ramsden S
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.
European journal of medical genetics 2006;49(6):472-80.
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2006: Borozdin Wiktor; Bravo Ferrer Acosta Ana M; Bamshad Michael J; Botzenhart Elke M; Froster Ursula G; Lemke Johannes; Schinzel Albert; Spranger Stephanie; McGaughran Julie; Wand Dorothea; Chrzanowska Krystyna H; Kohlhase Jürgen
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.
Human mutation 2006;27(9):975-6.
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2006: Seifert W; Holder-Espinasse M; Spranger S; Hoeltzenbein M; Rossier E; Dollfus H; Lacombe D; Verloes A; Chrzanowska K H; Maegawa G H B; Chitayat D; Kotzot D; Huhle D; Meinecke P; Albrecht B; Mathijssen I; Leheup B; Raile K; Hennies H C; Horn D
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Journal of medical genetics 2006;43(5):e22.
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2006: Chrzanowska Krystyna H; Piekutowska-Abramczuk Dorota; Popowska Ewa; Gladkowska-Dura Malgorzata; Maldyk Jadwiga; Syczewska Malgorzata; Krajewska-Walasek Malgorzata; Goryluk-Kozakiewicz Bozenna; Bubala Halina; Gadomski Artur; Gaworczyk Anna; Kazanowska Bernarda; Koltan Andrzej; Kuzmicz Marta; Luszawska-Kutrzeba Teresa; Maciejka-Kapuscinska Lucyna; Stolarska Malgorzata; Stefanska Katarzyna; Sznurkowska Katarzyna; Wakulinska Anna; Wieczorek Maria; Szczepanski Tomasz; Kowalczyk Jerzy
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.
International journal of cancer. Journal international du cancer 2006;118(5):1269-74.
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2004: Siwicki Jan Konrad; Berglund Mattias; Rygier Jolanta; Pienkowska-Grela Barbara; Grygalewicz Beata; Degerman Sofie; Golovleva Irina; Chrzanowska Krystyna H; Lagercrantz Svetlana; Blennow Elisabeth; Roos Göran; Larsson Catharina
Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event.
Genes, chromosomes & cancer 2004;41(2):133-44.
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2004: Hennies Hans Christian; Rauch Anita; Seifert Wenke; Schumi Christian; Moser Elisabeth; Al-Taji Eva; Tariverdian Gholamali; Chrzanowska Krystyna H; Krajewska-Walasek Malgorzata; Rajab Anna; Giugliani Roberto; Neumann Thomas E; Eckl Katja M; Karbasiyan Mohsen; Reis André; Horn Denise
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
American journal of human genetics 2004;75(1):138-45.
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2004: Lähdesmäki Aleksi; Taylor A Malcolm R; Chrzanowska Krystyna H; Pan-Hammarström Qiang
Delineation of the role of the Mre11 complex in class switch recombination.
The Journal of biological chemistry 2004;279(16):16479-87.
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2004: Bekiesinska-Figatowska Monika; Chrzanowska Krystyna H; Jurkiewicz Elzbieta; Wakulinska Anna; Rysiewskis Henryk; Gladkowska-Dura Malgorzata; Walecki Jerzy
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.
Acta neurobiologiae experimentalis 2004;64(4):503-9.
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2003: Michalkiewicz J; Barth C; Chrzanowska K; Gregorek H; Syczewska M; Weemaes C M B; Madalinski K; Stachowski J;
Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome.
Clinical and experimental immunology 2003;134(3):482-90.
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2003: Siwicki Jan Konrad; Degerman Sofie; Chrzanowska Krystyna H; Roos Göran
Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients.
Experimental cell research 2003;287(1):178-89.
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2002: Gregorek H; Chrzanowska K H; Michalkiewicz J; Syczewska M; Madalinski K
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.
Clinical and experimental immunology 2002;130(2):319-24.
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2002: Chrzanowska K H; Bekiesinska-Figatowska M; Józwiak S
Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome.
Journal of medical genetics 2002;39(5):E25.
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2002: Pan Qiang; Petit-Frére Corinne; Lähdesmäki Aleksi; Gregorek Hanna; Chrzanowska Krystyna H; Hammarström Lennart
Alternative end joining during switch recombination in patients with ataxia-telangiectasia.
European journal of immunology 2002;32(5):1300-8.
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2001: Chrzanowska K H; Stumm M; Bekiesiska-Figatowska M; Varon R; Biaecka M; Gregorek H; Michakiewicz J; Krajewska-Walasek M; Jówiak S; Reis A
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain.
Journal of medical genetics 2001;38(1):E3.
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2000: Varon R; Seemanova E; Chrzanowska K; Hnateyko O; Piekutowska-Abramczuk D; Krajewska-Walasek M; Sykut-Cegielska J; Sperling K; Reis A
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
European journal of human genetics : EJHG 2000;8(11):900-2.
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2000: Kotzot D; Balmer D; Baumer A; Chrzanowska K; Hamel B C; Ilyina H; Krajewska-Walasek M; Lurie I W; Otten B J; Schoenle E; Tariverdian G; Schinzel A
Maternal uniparental disomy 7--review and further delineation of the phenotype.
European journal of pediatrics 2000;159(4):247-56.
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2000: Kotzot D; Martinez M J; Bagci G; Basaran S; Baumer A; Binkert F; Brecevic L; Castellan C; Chrzanowska K; Dutly F; Gutkowska A; Karaüzüm S B; Krajewska-Walasek M; Luleci G; Miny P; Riegel M; Schuffenhauer S; Seidel H; Schinzel A
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Journal of medical genetics 2000;37(4):281-6.
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2000: Röthlisberger B; Chrzanowska K; Balmer D; Riegel M; Schinzel A
A supernumerary marker chromosome originating from two different regions of chromosome 18.
Journal of medical genetics 2000;37(2):121-4.
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2000: Bekiesinska-Figatowska M; Chrzanowska K H; Sikorska J; Walecki J; Krajewska-Walasek M; Józwiak S; Kleijer W J
Cranial MRI in the Nijmegen breakage syndrome.
Neuroradiology 2000;42(1):43-7.
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1998: Varon R; Vissinga C; Platzer M; Cerosaletti K M; Chrzanowska K H; Saar K; Beckmann G; Seemanová E; Cooper P R; Nowak N J; Stumm M; Weemaes C M; Gatti R A; Wilson R K; Digweed M; Rosenthal A; Sperling K; Concannon P; Reis A
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell 1998;93(3):467-76.
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1998: Chrzanowska K H; Krajewska-Walasek M; Kus J; Michalkiewicz J; Maziarka D; Wolski J K; Brecevic L; Madalinski K
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
Clinical genetics 1998;53(4):308-12.
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1998: Matsuura K; Balmukhanov T; Tauchi H; Weemaes C; Smeets D; Chrzanowska K; Endou S; Matsuura S; Komatsu K
Radiation induction of p53 in cells from Nijmegen breakage syndrome is defective but not similar to ataxia-telangiectasia.
Biochemical and biophysical research communications 1998;242(3):602-7.
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1997: Jongmans W; Vuillaume M; Chrzanowska K; Smeets D; Sperling K; Hall J
Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.
Molecular and cellular biology 1997;17(9):5016-22.
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1997: Chrzanowska K; Stumm M; Bialecka M; Saar K; Bernatowska-Matuszkiewicz E; Michalkiewicz J; Barszcz S; Reis A; Wegner R D
Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
Clinical genetics 1997;51(5):309-13.
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1997: Saar K; Chrzanowska K H; Stumm M; Jung M; Nürnberg G; Wienker T F; Seemanová E; Wegner R D; Reis A; Sperling K
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.
American journal of human genetics 1997;60(3):605-10.
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1996: Krajewska-Walasek M; Chrzanowska K; Czermiska-Kowalska A
Another patient with an unusual syndrome of mental retardation and sparse hair?
Clinical dysmorphology 1996;5(2):183-6.
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1996: van der Burgt I; Chrzanowska K H; Smeets D; Weemaes C
Nijmegen breakage syndrome.
Journal of medical genetics 1996;33(2):153-6.
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1996: Krajewska-Walasek M; Chrzanowska K; Jastrzbska M
The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature.
Clinical dysmorphology 1996;5(1):65-72.
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1996: Krajewska-Walasek M; Gutkowska A; Mospinek-Krasnopolska M; Chrzanowska K
A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]
Acta geneticae medicae et gemellologiae 1996;45(1-2):245-50.
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1995: Dunin-Wasowicz D; Krajewska-Walasek M; Rowecka-Trzebicka K; Gurkau-Malecha M; Gutkowska A; Chrzanowska K
[Diagnosis of Edwards syndrome in newborns]
Pediatria polska 1995;70(10):865-74.
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1995: Stumm M; Gatti R A; Reis A; Udar N; Chrzanowska K; Seemanova E; Sperling K; Wegner R D
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
American journal of human genetics 1995;57(4):960-2.
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1995: Chrzanowska K H; Kleijer W J; Krajewska-Walasek M; Bialecka M; Gutkowska A; Goryluk-Kozakiewicz B; Michalkiewicz J; Stachowski J; Gregorek H; Lysón-Wojciechowska G
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
American journal of medical genetics 1995;57(3):462-71.
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1995: Krajewska-Walasek M; Chrzanowska K; Tylki-Szymanska A; Bialecka M
A further report of Brachmann-de Lange syndrome in two sibs with normal parents.
Clinical genetics 1995;47(6):324-7.
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1993: Chrzanowska K; Fryns J P
Miller postaxial acrofacial dysostosis. The phenotypic changes with age.
Genetic counseling (Geneva, Switzerland) 1993;4(2):131-3.
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1989: Chrzanowska K; Fryns J P; Van den Berghe H
Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.
American journal of medical genetics 1989;33(4):471-3.
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1989: Chrzanowska K H; Fryns J P; Krajewska-Walasek M; Van den Berghe H; Wisniewski L
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.
American journal of medical genetics 1989;32(4):470-4.
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1989: Chrzanowska K H; Fryns J P; Krajewska-Walasek M; Wisniewski L; Van den Berghe H
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.
Clinical genetics 1989;35(2):157-60.
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1987: Krajewska-Walasek M; Wisniewski L; Chrzanowska K; Jezuita J; Papierowski Z; Sternadel Z; Chacinski L
[8-year experience with genetic counseling at the Child Health Center with special reference to prenatal diagnosis]
Ginekologia polska 1987;58(11):718-28.
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1987: Chrzanowska K; Krajewska-Walasek M; Wisniewski L
[Maternal age in pregnancy--genetic counseling and prenatal diagnosis in the light of known facts and personal observations]
Ginekologia polska 1987;58(10):656-61.
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1987: Chrzanowska K H; Krajewska-Walasek M
The Dubowitz syndrome--one more case.
Klinische Pädiatrie 1987;199(5):370-2.
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1986: Krajewska-Walasek M; Chrzanowska K; Rump Z
[The diagnosis of Cohen's syndrome]
Wiadomosci lekarskie (Warsaw, Poland : 1960) 1986;39(18):1270-7.
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