124 related articles for article (PubMed ID: 21107340)
1. Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
Martorell L; Nascimento MT; Colome R; Genovés J; Naudó M; Nascimento A
J Hum Genet; 2011 Jan; 56(1):87-90. PubMed ID: 21107340
[TBL] [Abstract][Full Text] [Related]
2. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
Mandel JL; Biancalana V
Growth Horm IGF Res; 2004 Jun; 14 Suppl A():S158-65. PubMed ID: 15135801
[TBL] [Abstract][Full Text] [Related]
3. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.
Moore CJ; Daly EM; Tassone F; Tysoe C; Schmitz N; Ng V; Chitnis X; McGuire P; Suckling J; Davies KE; Hagerman RJ; Hagerman PJ; Murphy KC; Murphy DG
Brain; 2004 Dec; 127(Pt 12):2672-81. PubMed ID: 15483045
[TBL] [Abstract][Full Text] [Related]
4. The Fragile X premutation: new insights and clinical consequences.
Van Esch H
Eur J Med Genet; 2006; 49(1):1-8. PubMed ID: 16473304
[TBL] [Abstract][Full Text] [Related]
5. Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.
Guruju MR; Lavanya K; Thelma BK; Sujatha M; OmSai VR; Nagarathna V; Amarjyothi P; Jyothi A; Anandaraj MP
J Clin Neurosci; 2009 Oct; 16(10):1305-10. PubMed ID: 19560928
[TBL] [Abstract][Full Text] [Related]
6. [Diagnostic testing in fragile X syndrome].
Sireteanu A; Rusu C
Rev Med Chir Soc Med Nat Iasi; 2006; 110(4):968-71. PubMed ID: 17438909
[TBL] [Abstract][Full Text] [Related]
7. [New methods for the diagnosis of fragile X syndrome: a study of the FMRP in blood and hair].
Ramos-Fuentes FJ
Rev Neurol; 2001 Oct; 33 Suppl 1():S9-S13. PubMed ID: 12447812
[TBL] [Abstract][Full Text] [Related]
8. Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.
Rodriguez-Revenga L; Madrigal I; Badenas C; Xunclà M; Jiménez L; Milà M
Menopause; 2009; 16(5):944-9. PubMed ID: 19373114
[TBL] [Abstract][Full Text] [Related]
9. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
Cronister A; Teicher J; Rohlfs EM; Donnenfeld A; Hallam S
Obstet Gynecol; 2008 Mar; 111(3):596-601. PubMed ID: 18310361
[TBL] [Abstract][Full Text] [Related]
10. Molecular diagnosis and genetic counseling for fragile X mental retardation.
Pandey UB; Phadke SR; Mittal B
Neurol India; 2004 Mar; 52(1):36-42. PubMed ID: 15069237
[TBL] [Abstract][Full Text] [Related]
11. Timing of the absence of FMR1 expression in full mutation chorionic villi.
Willemsen R; Bontekoe CJ; Severijnen LA; Oostra BA
Hum Genet; 2002 Jun; 110(6):601-5. PubMed ID: 12107447
[TBL] [Abstract][Full Text] [Related]
12. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
Bodega B; Bione S; Dalprà L; Toniolo D; Ornaghi F; Vegetti W; Ginelli E; Marozzi A
Hum Reprod; 2006 Apr; 21(4):952-7. PubMed ID: 16361284
[TBL] [Abstract][Full Text] [Related]
13. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
Rousseau F; Heitz D; Biancalana V; Blumenfeld S; Kretz C; Boué J; Tommerup N; Van Der Hagen C; DeLozier-Blanchet C; Croquette MF
N Engl J Med; 1991 Dec; 325(24):1673-81. PubMed ID: 1944467
[TBL] [Abstract][Full Text] [Related]
14. Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.
Heine-Suñer D; Torres-Juan L; Morlà M; Busquets X; Barceló F; Picó G; Bonilla L; Govea N; Bernués M; Rosell J
Am J Med Genet A; 2003 Oct; 122A(2):108-14. PubMed ID: 12955761
[TBL] [Abstract][Full Text] [Related]
15. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
Sharma D; Gupta M; Thelma BK
Genet Epidemiol; 2001 Jan; 20(1):129-144. PubMed ID: 11119302
[TBL] [Abstract][Full Text] [Related]
16. The emerging fragile X premutation phenotype: evidence from the domain of social cognition.
Cornish K; Kogan C; Turk J; Manly T; James N; Mills A; Dalton A
Brain Cogn; 2005 Feb; 57(1):53-60. PubMed ID: 15629215
[TBL] [Abstract][Full Text] [Related]
17. Fragile X syndrome in females - a familial case report and review of the literature.
Stembalska A; Łaczmańska I; Gil J; Pesz KA
Dev Period Med; 2016; 20(2):99-104. PubMed ID: 27442693
[TBL] [Abstract][Full Text] [Related]
18. Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
Govaerts LC; Smit AE; Saris JJ; VanderWerf F; Willemsen R; Bakker CE; De Zeeuw CI; Oostra BA
Clin Genet; 2007 Aug; 72(2):138-44. PubMed ID: 17661818
[TBL] [Abstract][Full Text] [Related]
19. Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.
Tejada MI; García-Alegría E; Bilbao A; Martínez-Bouzas C; Beristain E; Poch M; Ramos-Arroyo MA; López B; Fernandez Carvajal I; Ribate MP; Ramos F
Menopause; 2008; 15(5):945-9. PubMed ID: 18427356
[TBL] [Abstract][Full Text] [Related]
20. Prenatal carrier testing for fragile X: counseling issues and challenges.
Musci TJ; Moyer K
Obstet Gynecol Clin North Am; 2010 Mar; 37(1):61-70, Table of Contents. PubMed ID: 20494258
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]