152 related articles for article (PubMed ID: 18925662)
1. 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; 146A(21):2816-21. PubMed ID: 18925662
[TBL] [Abstract][Full Text] [Related]
2. 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; 47(3):305-13. PubMed ID: 15337477
[TBL] [Abstract][Full Text] [Related]
3. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.
Kubota T; Wakui K; Nakamura T; Ohashi H; Watanabe Y; Yoshino M; Kida T; Okamoto N; Matsumura M; Muroya K; Ogata T; Goto Y; Fukushima Y
Cytogenet Genome Res; 2002; 99(1-4):276-84. PubMed ID: 12900575
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Three patients with ring (X) chromosomes and a severe phenotype.
Dennis NR; Collins AL; Crolla JA; Cockwell AE; Fisher AM; Jacobs PA
J Med Genet; 1993 Jun; 30(6):482-6. PubMed ID: 8326492
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Phenotype and X inactivation in 45,X/46,X,r(X) cases.
Leppig KA; Sybert VP; Ross JL; Cunniff C; Trejo T; Raskind WH; Disteche CM
Am J Med Genet A; 2004 Jul; 128A(3):276-84. PubMed ID: 15216549
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10982188
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation.
Jani MM; Torchia BS; Pai GS; Migeon BR
Genomics; 1995 May; 27(1):182-8. PubMed ID: 7665167
[TBL] [Abstract][Full Text] [Related]
11. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.
Migeon BR; Luo S; Jani M; Jeppesen P
Am J Hum Genet; 1994 Sep; 55(3):497-504. PubMed ID: 8079992
[TBL] [Abstract][Full Text] [Related]
12. Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.
Chauhan P; Jaiswal SK; Lakhotia AR; Rai AK
J Assist Reprod Genet; 2016 Sep; 33(9):1161-8. PubMed ID: 27387888
[TBL] [Abstract][Full Text] [Related]
13. An atypical Turner syndrome patient with ring X chromosome mosaicism.
Cantú ES; Jacobs DF; Pai GS
Ann Clin Lab Sci; 1995; 25(1):60-5. PubMed ID: 7762970
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
Kalkan R; Özdağ N; Bundak R; Çirakoğlu A; Serakinci N
Syst Biol Reprod Med; 2016; 62(1):77-83. PubMed ID: 26744914
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Leppig KA; Disteche CM
Semin Reprod Med; 2001 Jun; 19(2):147-57. PubMed ID: 11480912
[TBL] [Abstract][Full Text] [Related]
18. Ring-X chromosomes: their cognitive and behavioural phenotype.
Kuntsi J; Skuse D; Elgar K; Morris E; Turner C
Ann Hum Genet; 2000 Jul; 64(Pt 4):295-305. PubMed ID: 11415514
[TBL] [Abstract][Full Text] [Related]
19. 45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.
Grompe M; Rao N; Elder FF; Caskey CT; Greenberg F
Am J Med Genet; 1992 Jan; 42(1):39-43. PubMed ID: 1339199
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 9520254
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]