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, Õunap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation
Gładkowska-Dura, M, Dzierżanowska-Fangrat, K, Dura, WT, van Krieken, JHJM, Chrzanowska, KH, van Dongen, JJM, Langerak, AW
Published in The Journal of pathology (01.11.2008)
Published in The Journal of pathology (01.11.2008)
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
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
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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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, 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
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8‐year follow‐up study in a single centre
GREGOREK, H., CHRZANOWSKA, K. H., MICHAL´KIEWICZ, J., SYCZEWSKA, M., MADALIN´SKI, K.
Published in Clinical and experimental immunology (01.11.2002)
Published in Clinical and experimental immunology (01.11.2002)
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Nijmegen breakage syndrome
van der Burgt, I, Chrzanowska, K H, Smeets, D, Weemaes, C
Published in Journal of medical genetics (01.02.1996)
Published in Journal of medical genetics (01.02.1996)
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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, A.J., Krajewska-Walasek, M., Chrzanowska, K.H., Clayton-Smith, J., Ramsden, S.
Published in European journal of medical genetics (01.11.2006)
Published in European journal of medical genetics (01.11.2006)
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The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
SAAR, K, CHRZANOWSKA, K. H, STUMM, M, JUNG, M, NÜRNBERG, G, WIENKER, T. F, SEEMANOVA, E, WEGNER, R.-D, REIS, A, SPERLING, K
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
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Cranial MRI in the Nijmegen breakage syndrome
BEKIESINSKA-FIGATOWSKA, M, CHRZANOWSKA, K. H, SIKORSKA, J, WALECKI, J, KRAJEWSKA-WALASEK, M, JOZWIAK, S, KLEIJER, W. J
Published in Neuroradiology (01.01.2000)
Published in Neuroradiology (01.01.2000)
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Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
Chrzanowska, Krystyna H, Krajewska-Walasek, M., Kuś, J., Michalkdewicz, J., Maziarka, D., Wolski, JK, Brecevic, L., Madaliński, K.
Published in Clinical genetics (01.04.1998)
Published in Clinical genetics (01.04.1998)
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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Varon, Raymonda, Vissinga, Christine, Platzer, Matthias, Cerosaletti, Karen M, Chrzanowska, Krystyna H, Saar, Kathrin, Beckmann, Georg, Seemanová, Eva, Cooper, Paul R, Nowak, Norma J, Stumm, Markus, Weemaes, Corry M.R, Gatti, Richard A, Wilson, Richard K, Digweed, Martin, Rosenthal, André, Sperling, Karl, Concannon, Patrick, Reis, André
Published in Cell (01.05.1998)
Published in Cell (01.05.1998)
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Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome
Chrzanowska, K H, Bekiesinska-Figatowska, M, Józwiak, S
Published in Journal of medical genetics (01.05.2002)
Published in Journal of medical genetics (01.05.2002)
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Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
CHRZANOWSKA, KRYSTYNA H, STUMM, MARKUS, BEKIESIŃSKA-FIGATOWSKA, MONIKA, VARON, RAYMONDA, BIAŁECKA, MAGDALENA, GREGOREK, HANNA, MICHAŁKIEWICZ, JACEK, KRAJEWSKA-WALASEK, MAŁGORZATA, JÓŹWIAK, SERGIUSZ, REIS, ANDRÉ
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome
Chrzanowska, K H, Kleijer, W J, Krajewska-Walasek, M, Białecka, M, Gutkowska, A, Goryluk-Kozakiewicz, B, Michałkiewicz, J, Stachowski, J, Gregorek, H, Lysón-Wojciechowska, G
Published in American journal of medical genetics (03.07.1995)
Published in American journal of medical genetics (03.07.1995)
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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
Chrzanowska, K H, Fryns, J P, Krajewska-Walasek, M, Van den Berghe, H, Wisniewski, L
Published in American journal of medical genetics (01.04.1989)
Published in American journal of medical genetics (01.04.1989)
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Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein
Krüger, Lars, Demuth, Ilja, Neitzel, Heidemarie, Varon, Raymonda, Sperling, Karl, Chrzanowska, Krystyna H., Seemanova, Eva, Digweed, Martin
Published in Carcinogenesis (New York) (01.01.2007)
Published in Carcinogenesis (New York) (01.01.2007)
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Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair
Czornak, Kamila, Chughtai, Sanaullah, Chrzanowska, Krystyna H.
Published in Journal of applied genetics (01.01.2008)
Published in Journal of applied genetics (01.01.2008)
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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
Lins, Stephan, Kim, Ryong, Krüger, Lars, Chrzanowska, Krystyna H., Seemanova, Eva, Digweed, Martin
Published in Gene (01.11.2009)
Published in Gene (01.11.2009)
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