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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, Szufladowicz-Wozniak J, Rysiewski H, Gregorek H, Cukrowska B, Syczewska M, Piekutowska-Abramczuk D, Janas R, Krajewska-Walasek M. Chrzanowska KH, et al. J Clin Endocrinol Metab. 2010 Jul;95(7):3133-40. doi: 10.1210/jc.2009-2628. Epub 2010 May 5. J Clin Endocrinol Metab. 2010. PMID: 20444919
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.
Zespół Silvera-Rusella. Część II.
Kalina MA, Tańska A, Marczak-Hałupka A, Chrzanowska KH. Kalina MA, et al. Among authors: chrzanowska kh. Pediatr Endocrinol Diabetes Metab. 2016 Jun 8;21(3):132-42. doi: 10.18544/PEDM-21.03.0035. Pediatr Endocrinol Diabetes Metab. 2016. PMID: 27275769 Free article. Review.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: chrzanowska kh. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
146 results