145 related articles for article (PubMed ID: 9129738)
1. Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.
Guillén DR; Lowichik A; Schneider NR; Cohen DS; Garcia S; Zinn AR
Am J Med Genet; 1997 May; 70(1):32-6. PubMed ID: 9129738
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
Stavropoulou C; Mignon C; Delobel B; Moncla A; Depetris D; Croquette MF; Mattei MG
J Med Genet; 1998 Nov; 35(11):932-8. PubMed ID: 9832041
[TBL] [Abstract][Full Text] [Related]
6. Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.
Nowaczyk MJ; Ramsay JA; Mohide P; Tomkins DJ
Am J Med Genet; 1998 May; 77(4):306-9. PubMed ID: 9600741
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Diploid/tetraploid mosaicism in a stillborn infant with prune belly anomaly.
Urioste M; Pinel I; Gomar JL; Skinner C; Martinez-Frias ML
Ann Genet; 1990; 33(1):49-51. PubMed ID: 2195982
[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. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
Wolff DJ; Brown CJ; Schwartz S; Duncan AM; Surti U; Willard HF
Am J Hum Genet; 1994 Jul; 55(1):87-95. PubMed ID: 8023855
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
Hou JW
Chang Gung Med J; 2004 May; 27(5):373-8. PubMed ID: 15366814
[TBL] [Abstract][Full Text] [Related]
14. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.
Brandt CA; Hertz JM; Petersen MB; Vogel F; Noer H; Mikkelsen M
J Med Genet; 1992 Oct; 29(10):704-8. PubMed ID: 1433229
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
Migeon BR; Luo S; Stasiowski BA; Jani M; Axelman J; Van Dyke DL; Weiss L; Jacobs PA; Yang-Feng TL; Wiley JE
Proc Natl Acad Sci U S A; 1993 Dec; 90(24):12025-9. PubMed ID: 8265665
[TBL] [Abstract][Full Text] [Related]
17. Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
Ramos FJ; McDonald-McGinn DM; Emanuel BS; Zackai EH
Am J Med Genet; 1992 Dec; 44(6):790-4. PubMed ID: 1481848
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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. PubMed ID: 12575022
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
