Mucosal neuromata syndrome (MEN type IIb (III)).

Por Fryns, J P, Chrzanowska, K
Publicado em 1988

Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.

Por Fryns, J P, Chrzanowska, K, Van den Berghe, H
Publicado em 1989

A supernumerary marker chromosome originating from two different regions of chromosome 18

Por Rothlisberger, B., Chrzanowska, K., Balmer, D., Riegel, M., Schinzel, A.
Publicado em 2000

Nijmegen breakage syndrome.

Por van der Burgt, I, Chrzanowska, K H, Smeets, D, Weemaes, C
Publicado em 1996

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre

Por Gregorek, H, Chrzanowska, K H, Michałkiewicz, J, Syczewska, M, Madaliński, K
Publicado em 2002

Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

Por Jongmans, W, Vuillaume, M, Chrzanowska, K, Smeets, D, Sperling, K, Hall, J
Publicado em 1997

Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome

Por Chrzanowska, K, Bekiesinska-Figat..., M, Jozwiak, S, Maraschio, P, Danesino, C, Varon, R, Tiepolo, L
Publicado em 2002

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

Por Stumm, M, Gatti, R A, Reis, A, Udar, N, Chrzanowska, K, Seemanova, E, Sperling, K, Wegner, R D
Publicado em 1995

Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome

Por MICHAŁKIEWICZ, J, BARTH, C, CHRZANOWSKA, K, GREGOREK, H, SYCZEWSKA, M, WEEMAES, C M B, MADALIŃSKI, K, DZIERŻANOWSKA, D, STACHOWSKI, J
Publicado em 2003

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

Por CHRZANOWSKA, K., STUMM, M., BEKIESINSKA-FIGAT..., M., VARON, R., BIALECKA, M., GREGOREK, H., MICHALKIEWICZ, J., KRAJEWSKA-WALASEK, M., JOZWIAK, S., REIS, A.
Publicado em 2001

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Por Saar, K, Chrzanowska, K H, Stumm, M, Jung, M, Nürnberg, G, Wienker, T F, Seemanová, E, Wegner, R D, Reis, A, Sperling, K
Publicado em 1997

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Por Kotzot, D., Martinez, M., Bagci, G., Basaran, S., Baumer, A., Binkert, F., Brecevic, L., Castellan, C., Chrzanowska, K., Dutly, F., Gutkowska, A., Karauzum, S. B., Krajewska-Walasek, M., Luleci, G., Miny, P., Riegel, M., Schuffenhauer, S., Seidel, H., Schinzel, A.
Publicado em 2000

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Por 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
Publicado em 2006