117 related articles for article (PubMed ID: 9129739)
1. Ring chromosome X in a child with manifestations of Kabuki syndrome.
McGinniss MJ; Brown DH; Burke LW; Mascarello JT; Jones MC
Am J Med Genet; 1997 May; 70(1):37-42. PubMed ID: 9129739
[TBL] [Abstract][Full Text] [Related]
2. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
Tomkins DJ; McDonald HL; Farrell SA; Brown CJ
Eur J Hum Genet; 2002 Jan; 10(1):44-51. PubMed ID: 11896455
[TBL] [Abstract][Full Text] [Related]
3. Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression.
Su PH; Kuo PL; Chen SJ; Chen JY; Yu JS; Liu YL; Kao IW
Acta Paediatr Taiwan; 2007; 48(1):28-31. PubMed ID: 19653414
[TBL] [Abstract][Full Text] [Related]
4. Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.
Stankiewicz P; Thiele H; Giannakudis I; Schlicker M; Baldermann C; Krüger A; Dörr S; Starke H; Hansmann I
Am J Med Genet; 2001 Aug; 102(3):286-92. PubMed ID: 11484209
[TBL] [Abstract][Full Text] [Related]
5. 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; 52(2):136-45. PubMed ID: 7801998
[TBL] [Abstract][Full Text] [Related]
6. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
Baumer A; Giovannucci Uzielli ML; Guarducci S; Lapi E; Röthlisberger B; Schinzel A
Am J Med Genet; 2002 Nov; 113(1):101-4. PubMed ID: 12400074
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 20856023
[TBL] [Abstract][Full Text] [Related]
8. [Screening for Y chromosome sequences in patients with Turner syndrome].
Ferrão L; Lopes ML; Limbert C; Marques B; Boieiro F; Silva M; Marques R; Lavinha J; Mota A; Gonçalves J
Acta Med Port; 2002; 15(2):89-100. PubMed ID: 15524154
[TBL] [Abstract][Full Text] [Related]
9. Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination.
Lebo RV; Milunsky J; Higgins AW; Loose B; Huang XL; Wyandt HE
Am J Med Genet; 1999 Aug; 85(5):429-37. PubMed ID: 10405438
[TBL] [Abstract][Full Text] [Related]
10. Severe phenotypes associated with inactive ring X chromosomes.
Migeon BR; Ausems M; Giltay J; Hasley-Royster C; Kazi E; Lydon TJ; Engelen JJ; Raymond GV
Am J Med Genet; 2000 Jul; 93(1):52-7. PubMed ID: 10861682
[TBL] [Abstract][Full Text] [Related]
11. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
Wenger SL; Boone LY; Cummins JH; Del Vecchio MA; Bay CA; Hummel M; Mowery-Rushton PA
Am J Med Genet; 2000 Apr; 91(5):351-4. PubMed ID: 10766997
[TBL] [Abstract][Full Text] [Related]
12. Novel ring chromosome composed of X- and Y-derived material in a girl with manifestations of Ullrich-Turner syndrome.
Grass FS; Brown CA; Backeljauw PF; Lucas A; Brasington C; Gazak JM; Nakano S; Ostrowski RS; Spence JE
Am J Med Genet; 2000 Aug; 93(5):343-8. PubMed ID: 10951455
[TBL] [Abstract][Full Text] [Related]
13. Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
Bernardini L; Capalbo A; D'Avanzo MG; Torrente I; Grammatico P; Dell'Edera D; Cavalcanti DP; Novelli A; Dallapiccola B
Eur J Med Genet; 2007; 50(2):94-102. PubMed ID: 17236832
[TBL] [Abstract][Full Text] [Related]
14. 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; 47(3):241-9. PubMed ID: 15337469
[TBL] [Abstract][Full Text] [Related]
15. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
Miyoshi O; Kondoh T; Taneda H; Otsuka K; Matsumoto T; Niikawa N
J Med Genet; 1999 Apr; 36(4):326-9. PubMed ID: 10227403
[TBL] [Abstract][Full Text] [Related]
16. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.
Van Dyke DL; Wiktor A; Palmer CG; Miller DA; Witt M; Babu VR; Worsham MJ; Roberson JR; Weiss L
Am J Med Genet; 1992 Aug; 43(6):996-1005. PubMed ID: 1415351
[TBL] [Abstract][Full Text] [Related]
17. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
Shago M; Sgro M; Barozzino T; Antinucci D; Chakraborty P; Chitayat D; Teshima I
Am J Med Genet; 2002 Dec; 113(3):279-85. PubMed ID: 12439897
[TBL] [Abstract][Full Text] [Related]
18. Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization.
Duncan AM; Macdonald A; Brown CJ; Wolff D; Willard HF; Sutton B
Am J Med Genet; 1993 Dec; 47(8):1153-6. PubMed ID: 8291547
[TBL] [Abstract][Full Text] [Related]
19. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.
Matsuo M; Muroya K; Nanao K; Hasegawa Y; Terasaki H; Kosaki K; Ogata T
Am J Med Genet; 2000 Apr; 91(4):267-72. PubMed ID: 10766981
[TBL] [Abstract][Full Text] [Related]
20. [Identification and characterization of marker chromosome in Turner syndrome].
Tan YQ; Cheng DH; DI YF; Li LY; Lu GX
Zhonghua Fu Chan Ke Za Zhi; 2007 Oct; 42(10):679-82. PubMed ID: 18241543
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
