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2. Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome. Bondy C; Bakalov VK; Cheng C; Olivieri L; Rosing DR; Arai AE J Med Genet; 2013 Oct; 50(10):662-5. PubMed ID: 23825392 [TBL] [Abstract][Full Text] [Related]
3. Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype. Udo EQ; Truly T; Peters A; Prakash SK; Rivera M; Rodriguez-Buritica DF Cytogenet Genome Res; 2023; 163(5-6):290-294. PubMed ID: 38128492 [TBL] [Abstract][Full Text] [Related]
4. Low-level 45,X/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study. Klásková E; Tüdös Z; Sobek A; Zapletalová J; Dostál J; Zbořilová B; Sobek A; Adamová K; Lattová V; Dostálová Z; Procházka M Ultrasound Obstet Gynecol; 2015 Jun; 45(6):722-7. PubMed ID: 25042300 [TBL] [Abstract][Full Text] [Related]
6. CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. Pinnaro CT; Beck CB; Major HJ; Darbro BW Hum Genet; 2023 Apr; 142(4):523-530. PubMed ID: 36929416 [TBL] [Abstract][Full Text] [Related]
7. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Prakash SK; Bondy CA; Maslen CL; Silberbach M; Lin AE; Perrone L; Limongelli G; Michelena HI; Bossone E; Citro R; ; Lemaire SA; Body SC; Milewicz DM Am J Med Genet A; 2016 Dec; 170(12):3157-3164. PubMed ID: 27604636 [TBL] [Abstract][Full Text] [Related]
8. Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. Reshmi SC; Miller JL; Deplewski D; Close C; Henderson LJ; Littlejohn E; Schwartz S; Waggoner DJ Eur J Med Genet; 2011; 54(2):161-4. PubMed ID: 21078420 [TBL] [Abstract][Full Text] [Related]
9. Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening. Klásková E; Zapletalová J; Kaprálová S; Šnajderová M; Lebl J; Tüdös Z; Pavlíček J; Černá J; Mihál V; Stará V; Procházka M J Pediatr Endocrinol Metab; 2017 Mar; 30(3):319-325. PubMed ID: 28236629 [TBL] [Abstract][Full Text] [Related]
10. Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities. Daggag H; Srour W; El-Khateeb M; Ajlouni K Sex Dev; 2013; 7(6):295-302. PubMed ID: 23988405 [TBL] [Abstract][Full Text] [Related]
11. Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. Caglayan AO; Demiryilmaz F; Kendirci M; Ozyazgan I; Akalin H; Bittmann S Genet Couns; 2009; 20(2):173-9. PubMed ID: 19650415 [TBL] [Abstract][Full Text] [Related]
12. [The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome]. Barros BA; Maciel-Guerra AT; De Mello MP; Coeli FB; Carvalho AB; Viguetti-Campos N; Assumpção Jde G; Marques-de-Faria AP; Lemos-Marini SH; Guerra-Junior G Arq Bras Endocrinol Metabol; 2009 Dec; 53(9):1137-42. PubMed ID: 20126871 [TBL] [Abstract][Full Text] [Related]
13. Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. Noordman I; Duijnhouwer A; Kapusta L; Kempers M; Roeleveld N; Schokking M; Smeets D; Freriks K; Timmers H; van Alfen-van der Velden J Eur J Med Genet; 2018 Jun; 61(6):301-306. PubMed ID: 29339108 [TBL] [Abstract][Full Text] [Related]
14. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Portnoï MF; Chantot-Bastaraud S; Christin-Maitre S; Carbonne B; Beaujard MP; Keren B; Lévy J; Dommergues M; Cabrol S; Hyon C; Siffroi JP Eur J Med Genet; 2012 Nov; 55(11):635-40. PubMed ID: 22809487 [TBL] [Abstract][Full Text] [Related]
15. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Freriks K; Timmers HJ; Netea-Maier RT; Beerendonk CC; Otten BJ; van Alfen-van der Velden JA; Traas MA; Mieloo H; van de Zande GW; Hoefsloot LH; Hermus AR; Smeets DF Eur J Med Genet; 2013 Sep; 56(9):497-501. PubMed ID: 23933507 [TBL] [Abstract][Full Text] [Related]
16. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Canto P; Kofman-Alfaro S; Jiménez AL; Söderlund D; Barrón C; Reyes E; Méndez JP; Zenteno JC Cancer Genet Cytogenet; 2004 Apr; 150(1):70-2. PubMed ID: 15041227 [TBL] [Abstract][Full Text] [Related]
17. Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report. Xue D; Cao DH; Mu K; Lv Y; Yang J J Obstet Gynaecol Res; 2018 Jun; 44(6):1158-1162. PubMed ID: 29517175 [TBL] [Abstract][Full Text] [Related]
18. The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome. Prakash SK Am J Med Genet C Semin Med Genet; 2019 Mar; 181(1):7-12. PubMed ID: 30810259 [TBL] [Abstract][Full Text] [Related]
19. [Down-Turner syndrome (45,X/47,XY,+21): case report and review]. Ryu SW; Lee G; Baik CS; Shim SH; Kim JT; Lee JS; Lee KA Korean J Lab Med; 2010 Apr; 30(2):195-200. PubMed ID: 20445340 [TBL] [Abstract][Full Text] [Related]
20. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. Al-Achkar W; Wafa A; Liehr T; Klein E; Moassass F Mol Med Rep; 2012 Aug; 6(2):293-6. PubMed ID: 22664581 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]