90 related articles for article (PubMed ID: 12700610)
1. Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
Raynaud M; Dessay S; Ronce N; Opitz J; Pembrey M; Romano C; Moraine C; Briault S
Eur J Hum Genet; 2003 Apr; 11(4):352-6. PubMed ID: 12700610
[TBL] [Abstract][Full Text] [Related]
2. Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.
Raynaud M; Moizard MP; Dessay B; Briault S; Toutain A; Gendrot C; Ronce N; Moraine C
Eur J Hum Genet; 2000 Apr; 8(4):253-8. PubMed ID: 10854107
[TBL] [Abstract][Full Text] [Related]
3. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.
Orstavik KH; Orstavik RE; Eiklid K; Tranebjaerg L
Am J Med Genet; 1996 Jul; 64(1):31-4. PubMed ID: 8826445
[TBL] [Abstract][Full Text] [Related]
4. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
[TBL] [Abstract][Full Text] [Related]
5. FG syndrome: report of three new families with linkage to Xq12-q22.1.
Graham JM; Tackels D; Dibbern K; Superneau D; Rogers C; Corning K; Schwartz CE
Am J Med Genet; 1998 Nov; 80(2):145-56. PubMed ID: 9805132
[TBL] [Abstract][Full Text] [Related]
6. Skewed X chromosome inactivation in scleroderma: comment on the article by Ozbalkan et al.
McGrath H
Arthritis Rheum; 2005 Nov; 52(11):3679; author reply 3679-80. PubMed ID: 16258909
[No Abstract] [Full Text] [Related]
7. FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
Dessay S; Moizard MP; Gilardi JL; Opitz JM; Middleton-Price H; Pembrey M; Moraine C; Briault S
Am J Med Genet; 2002 Sep; 112(1):6-11. PubMed ID: 12239712
[TBL] [Abstract][Full Text] [Related]
8. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
Schluth C; Cossée M; Girard-Lemaire F; Carelle N; Dollfus H; Jeandidier E; Flori E
Pathol Biol (Paris); 2007 Feb; 55(1):29-36. PubMed ID: 16690229
[TBL] [Abstract][Full Text] [Related]
9. [X chromosome inactivation pattern in elderly women over 70 years of age].
Iurov IIu; Willard L; Vorsanova SG; Demidova IA; Goĭko EA; Shal'nova SA; Shkol'nikova MA; Olfer'ev AM; Iurov IuB
Tsitol Genet; 2004; 38(4):49-54. PubMed ID: 15715165
[TBL] [Abstract][Full Text] [Related]
10. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
Ramprasad VL; Thool A; Murugan S; Nancarrow D; Vyas P; Rao SK; Vidhya A; Ravishankar K; Kumaramanickavel G
Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749
[TBL] [Abstract][Full Text] [Related]
11. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Hudson G; Carelli V; Horvath R; Zeviani M; Smeets HJ; Chinnery PF
Mol Vis; 2007 Dec; 13():2339-43. PubMed ID: 18199976
[TBL] [Abstract][Full Text] [Related]
12. Mapping of a further locus for X-linked craniofrontonasal syndrome.
Wieland I; Jakubiczka S; Muschke P; Wolf A; Gerlach L; Krawczak M; Wieacker P
Cytogenet Genome Res; 2002; 99(1-4):285-8. PubMed ID: 12900576
[TBL] [Abstract][Full Text] [Related]
13. Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.
Blinkenberg EO; Brendehaug A; Sandvik AK; Vatne O; Hennekam RC; Houge G
Eur J Hum Genet; 2007 May; 15(5):543-7. PubMed ID: 17342156
[TBL] [Abstract][Full Text] [Related]
14. X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers.
Beever CL; Peñaherrera MS; Langlois S; Robinson WR
Am J Med Genet A; 2003 Dec; 123A(3):231-5. PubMed ID: 14608642
[TBL] [Abstract][Full Text] [Related]
15. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome.
Wikström AM; Painter JN; Raivio T; Aittomäki K; Dunkel L
Clin Endocrinol (Oxf); 2006 Jul; 65(1):92-7. PubMed ID: 16817826
[TBL] [Abstract][Full Text] [Related]
16. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG; Lenzner S; Bauters M; Jensen LR; Van Esch H; des Portes V; Moog U; Macville MV; van Roozendaal K; Schrander-Stumpel CT; Tzschach A; Marynen P; Fryns JP; Hamel B; van Bokhoven H; Chelly J; Beldjord C; Turner G; Gecz J; Moraine C; Raynaud M; Ropers HH; Froyen G; Kuss AW
Eur J Hum Genet; 2008 Sep; 16(9):1029-37. PubMed ID: 18398436
[TBL] [Abstract][Full Text] [Related]
17. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Piluso G; Carella M; D'Avanzo M; Santinelli R; Carrano EM; D'Avanzo A; D'Adamo AP; Gasparini P; Nigro V
Hum Genet; 2003 Feb; 112(2):124-30. PubMed ID: 12522552
[TBL] [Abstract][Full Text] [Related]
18. Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.
Kubota T; Oga S; Ohashi H; Iwamoto Y; Fukushima Y
Am J Med Genet; 1999 Nov; 87(3):258-61. PubMed ID: 10564881
[TBL] [Abstract][Full Text] [Related]
19. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
Panasiuk B; Usinskiené R; Kostyk E; Rybałko A; Stasiewicz-Jarocka B; Krzykwa B; Pieńkowska-Grela B; Kucinskas V; Michalova K; Midro AT
Ann Genet; 2004; 47(1):11-28. PubMed ID: 15050871
[TBL] [Abstract][Full Text] [Related]
20. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK; Dyack S; Dobson MJ; Costa T; Lam WL; Greer WL
Eur J Hum Genet; 2007 Jun; 15(6):628-37. PubMed ID: 17342157
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
