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Items: 1 to 20 of 153

1.

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K, Bellus G.

J Craniofac Surg. 2010 Sep;21(5):1369-75. doi: 10.1097/SCS.0b013e3181ec6ac0.

PMID:
20856023
2.

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).

Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD.

Clin Genet. 1997 Dec;52(6):432-5.

PMID:
9520254
3.

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.

Am J Med Genet. 1995 Mar 27;56(2):219-33. Review.

PMID:
7625449
4.

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.

Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C.

Am J Med Genet. 1994 Aug 15;52(2):136-45. Review.

PMID:
7801998
5.

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V.

Am J Med Genet A. 2004 Oct 15;130A(3):288-94. Review.

PMID:
15378554
6.

A small and active ring X chromosome in a female with features of Kabuki syndrome.

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML.

Am J Med Genet A. 2008 Nov 1;146A(21):2816-21. doi: 10.1002/ajmg.a.32521.

PMID:
18925662
7.
8.

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM.

Clin Genet. 1996 Jan;49(1):49-53.

PMID:
8721573
9.

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Turner C, Dennis NR, Skuse DH, Jacobs PA.

Hum Genet. 2000 Jan;106(1):93-100.

PMID:
10982188
10.

Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.

Tümer Z, Wolff D, Silahtaroglu AN, Orum A, Brøndum-Nielsen K.

Am J Med Genet. 1998 Feb 26;76(1):45-50.

PMID:
9508064
11.

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM.

Prenat Diagn. 2003 Feb;23(2):143-5. Review.

PMID:
12575022
12.

Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.

Eyüpoğlu FC, Sünnetçi D, Cine N, Savli H, Okten A, Açikgöz EG, Sönmez FM.

Genet Couns. 2014;25(3):305-13.

PMID:
25365853
13.

Mosaic supernumerary r(8) syndrome.

Yilmaz S, Tarkan-Argüden Y, Kuru D, Deviren A, Karaman B, Yüksel A, Hacihanefioğlu S.

Genet Couns. 2005;16(2):187-90. No abstract available.

PMID:
16080301
14.

Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.

Bouayed Abdelmoula N, Portnoï MF, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T.

Ann Genet. 2004 Jul-Sep;47(3):305-13. Review.

PMID:
15337477
15.
16.

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, Palmieri C, Curatolo P.

Eur J Med Genet. 2011 May-Jun;54(3):329-32. doi: 10.1016/j.ejmg.2011.02.004. Epub 2011 Feb 17.

PMID:
21333764
17.

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31.

PMID:
19729913
18.

Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.

Davidsson J, Collin A, Oreberg M, Gisselsson D.

Clin Genet. 2008 Jan;73(1):44-9. Epub 2007 Nov 13.

PMID:
18005181
19.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B.

Ann Genet. 2004 Jul-Sep;47(3):241-9. Review.

PMID:
15337469
20.

Supernumerary ring chromosome 20 in a mother and her child.

Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I, Lima MR.

Am J Med Genet A. 2005 Mar 1;133A(2):193-6. Review.

PMID:
15666311

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