15735571 34333639 18391547 29739006 18074363 21316495 19909521 - Search Results

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Segregation of the marker chromosome der(20) in the sperm of a male with karyotype 46,XY[961/ 47,XY+mar[4].

Wiland E, Jarmumz M, Kurpisz M. Wiland E, et al. Med Sci Monit. 2005 Mar;11(3):CS9-15. Med Sci Monit. 2005. PMID: 15735571

Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype.

Purwar N, Tiwari P, Mathur N, Sharma H, Sahlot R, Garg U, Sharma B, Saxena A, Mathur SK. Purwar N, et al. J Clin Endocrinol Metab. 2021 Nov 19;106(12):e4935-e4955. doi: 10.1210/clinem/dgab572. J Clin Endocrinol Metab. 2021. PMID: 34333639

Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature.

Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, Seidel J, Emmanuil N, Petesen M, Polityko A, Dufke A, Iourov I, Trifonov V, Vermeesch J, Weise A. Liehr T, et al. Sex Dev. 2007;1(6):353-62. doi: 10.1159/000111767. Epub 2008 Jan 18. Sex Dev. 2007. PMID: 18391547 Review.

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.

Tesner P, Vlckova M, Drabova J, Vseticka J, Klimova A, Lastuvkova J, Zidovska J, Kremlikova Pourova R, Hancarova M, Sedlacek Z, Kocarek E. Tesner P, et al. Cytogenet Genome Res. 2018;154(4):187-195. doi: 10.1159/000488790. Epub 2018 May 9. Cytogenet Genome Res. 2018. PMID: 29739006 Free article.

The Mayer-Rokitansky-Kuster-Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21).

Güven A, Kara N, Sağlam Y, Güneş S, Okten G. Güven A, et al. Am J Med Genet A. 2008 Jan 1;146A(1):128-31. doi: 10.1002/ajmg.a.32048. Am J Med Genet A. 2008. PMID: 18074363 No abstract available.

Characterization of sSMC by FISH and molecular techniques.

Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J. Sheth F, et al. Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3. Eur J Med Genet. 2011. PMID: 21316495

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.

Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, Desai M, Andrieux J, Vermeesch J, Hamid AB, Ziegler M, Liehr T. Sheth F, et al. Mol Cytogenet. 2009 Nov 12;2:22. doi: 10.1186/1755-8166-2-22. Mol Cytogenet. 2009. PMID: 19909521 Free PMC article.

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