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Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.
Freriks, Kim; Timmers, Henri J L M; Netea-Maier, Romana T; Beerendonk, Catharina C M; Otten, Barto J; van Alfen-van der Velden, Janiëlle A E M; Traas, Maaike A F; Mieloo, Hanneke; van de Zande, Guillaume W H J F L; Hoefsloot, Lies H; Hermus, Ad R M M; Smeets, Dominique F C M.
Affiliation
  • Freriks K; Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. Electronic address: k.freriks@aig.umcn.nl.
Eur J Med Genet ; 56(9): 497-501, 2013 Sep.
Article in En | MEDLINE | ID: mdl-23933507
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Chromosomes, Human, X / Chromosomes, Human, Y / Mosaicism Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Chromosomes, Human, X / Chromosomes, Human, Y / Mosaicism Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Country of publication: Netherlands