-
1
-
-
0030022497
-
Nijmegen breakage syndrome
-
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C: Nijmegen breakage syndrome. J Med Genet 1996, 33, 153-156.
-
(1996)
J Med Genet
, vol.33
, pp. 153-156
-
-
Van Der Burgt, I.1
Chrzanowska, K.H.2
Smeets, D.3
Weemaes, C.4
-
2
-
-
36949021811
-
The clinical manifestation of a defecive response to DNA doble-strand break as exemplified by Nijmegen breakage syndrome
-
Demuth I, Digweed M: The clinical manifestation of a defecive response to DNA doble-strand break as exemplified by Nijmegen breakage syndrome. Oncogene 2007, 26, 7792-7798.
-
(2007)
Oncogene
, vol.26
, pp. 7792-7798
-
-
Demuth, I.1
Digweed, M.2
-
3
-
-
0012225239
-
Zespól Nijmegen - Pierwotne matoglowie z wysokim ryzykiem rozwoju nowotworu Postȩpy w wyjaœnianiu molekularnego podłoza choroby
-
Chrzanowska KH: Zespól Nijmegen - pierwotne matoglowie z wysokim ryzykiem rozwoju nowotworu. Postȩpy w wyjaœnianiu molekularnego podłoZa choroby. Pediatr Pol 2001, LXXVI (5), 327-338.
-
(2001)
Pediatr Pol
, vol.76
, Issue.5
, pp. 327-338
-
-
Chrzanowska, K.H.1
-
4
-
-
16344362449
-
NBS1 expression as a prognostic marker in uveal melanoma
-
Ehler JP, Harbour JW: NBS1 expression as a prognostic marker in uveal melanoma. Clin Cancer Res 2005,11,1849-1853.
-
(2005)
Clin Cancer Res
, vol.11
, pp. 1849-1853
-
-
Ehler, J.P.1
Harbour, J.W.2
-
5
-
-
0033710938
-
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations
-
Varon R, Seemanova E, Chrzanowska KH, Hnateyko 0, Pieku-towska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegiel-ska J, Sperling K, Reis A: Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 2000, 8, 900-902.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 900-902
-
-
Varon, R.1
Seemanova, E.2
Chrzanowska, K.H.3
Hnateyko, O.4
Pieku-Towska-Abramczuk, D.5
Krajewska-Walasek, M.6
Sykut-Cegiel-Ska, J.7
Sperling, K.8
Reis, A.9
-
6
-
-
77954911868
-
High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: Evidence from a longitudinal study
-
Chrzanowska KH, Szarras-Czapnik M, Gajdulewicz M, Kalina MA, Gajtko-Metera M, Walewska-Wolf M, Szuflado-wicz-Woźniak J, Rysiewski H, Gregorek H, Cukrowska B, Syczewska M, Piekutowska-Abramczuk D, Janas R, Krajewska-Walasek M: High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: Evidence from a Longitudinal Study. J Clin Endocrinol Metab 2010, 95,3133-3140.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 3133-3140
-
-
Chrzanowska, K.H.1
Szarras-Czapnik, M.2
Gajdulewicz, M.3
Kalina, M.A.4
Gajtko-Metera, M.5
Walewska-Wolf, M.6
Szuflado-wicz-Woźniak, J.7
Rysiewski, H.8
Gregorek, H.9
Cukrowska, B.10
Syczewska, M.11
Piekutowska-Abramczuk, D.12
Janas, R.13
Krajewska-Walasek, M.14
-
7
-
-
0036404927
-
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: An 8-year fol-low-up study in a single centre
-
Gregorek H, Chrzanowska KH, Michalkiewicz J, Syczewska M, Madaliński K: Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: An 8-year fol-low-up study in a single centre. Clin Exp Immunol 2002, 130, 319-324.
-
(2002)
Clin Exp Immunol
, vol.130
, pp. 319-324
-
-
Gregorek, H.1
Chrzanowska, K.H.2
Michalkiewicz, J.3
Syczewska, M.4
Madaliński, K.5
-
8
-
-
84856292206
-
Funkcjonowanie poznawcze i emocjonalno-spoleczne pacjentów z zespołem Nijmegen w kontekœcie koncepcji fenotypu behawioralnego
-
Korzeniewska J, Chrzanowska K, Dembowska-Bagińska B: Funkcjonowanie poznawcze i emocjonalno-spoleczne pacjentów z zespołem Nijmegen w kontekœcie koncepcji fenotypu behawioralnego. Standardy Med 2007, 4, 216-219.
-
(2007)
Standardy Med
, vol.4
, pp. 216-219
-
-
Korzeniewska, J.1
Chrzanowska, K.2
Dembowska-Bagińska, B.3
-
9
-
-
33746367158
-
A novel function of DNA repair molecule Nbs1 in terminal differentiation of the lens fibre cells and cataractogenesis
-
Yang YG, Frappart PO, Frappart L, Wang ZQ, Tong WM: A novel function of DNA repair molecule Nbs1 in terminal differentiation of the lens fibre cells and cataractogenesis. DNA Repair (Amst) 2006,13, 885-893.
-
(2006)
DNA Repair (Amst)
, vol.13
, pp. 885-893
-
-
Yang, Y.G.1
Frappart, P.O.2
Frappart, L.3
Wang, Z.Q.4
Tong, W.M.5
-
10
-
-
67349181294
-
Conditional inactivation of the NBS1 gene in the mouse central nervous system leeds to neurodegeneration and disorganization of the visual system
-
Baranes K, Raz-Prag D, Nitzan A, Gairon R, Ashry-Padan R, Ro-tenstreich Y, Assaf Y, Shiloh Y, Wang ZO, Barzilai A, Solomon AS: Conditional inactivation of the NBS1 gene in the mouse central nervous system leeds to neurodegeneration and disorganization of the visual system. Exp Neurol 2009, 218, 24-32.
-
(2009)
Exp Neurol
, vol.218
, pp. 24-32
-
-
Baranes, K.1
Raz-Prag, D.2
Nitzan, A.3
Gairon, R.4
Ashry-Padan, R.5
Ro-Tenstreich, Y.6
Assaf, Y.7
Shiloh, Y.8
Wang, Z.O.9
Barzilai, A.10
Solomon, A.S.11
|