84 related articles for article (PubMed ID: 22190500)
1. Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).
Burruss DM; Wood TC; Espinoza L; Dwivedi A; Holden KR
J Child Neurol; 2012 Jun; 27(6):786-90. PubMed ID: 22190500
[TBL] [Abstract][Full Text] [Related]
2. Fragile X syndrome with FMR1 and FMR2 deletion.
Moore SJ; Strain L; Cole GF; Miedzybrodzka Z; Kelly KF; Dean JC
J Med Genet; 1999 Jul; 36(7):565-6. PubMed ID: 10424820
[TBL] [Abstract][Full Text] [Related]
3. Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Beck M; Steglich C; Zabel B; Dahl N; Schwinger E; Hopwood JJ; Gal A
Am J Med Genet; 1992 Sep; 44(1):100-3. PubMed ID: 1355630
[TBL] [Abstract][Full Text] [Related]
4. Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
Marshall LS; Simon J; Wood T; Peng M; Owen R; Feldman GS; Zaragoza MV
BMC Med Genet; 2013 May; 14():49. PubMed ID: 23634718
[TBL] [Abstract][Full Text] [Related]
5. A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
Birot AM; Delobel B; Gronnier P; Bonnet V; Maire I; Bozon D
Hum Mutat; 1996; 7(3):266-8. PubMed ID: 8829661
[No Abstract] [Full Text] [Related]
6. 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]
7. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
Timms KM; Huckett LE; Belmont JW; Shapira SK; Gibbs RA
Hum Mutat; 1998; 11(2):121-6. PubMed ID: 9482575
[TBL] [Abstract][Full Text] [Related]
8. Fragile X syndrome without CCG amplification has an FMR1 deletion.
Gedeon AK; Baker E; Robinson H; Partington MW; Gross B; Manca A; Korn B; Poustka A; Yu S; Sutherland GR
Nat Genet; 1992 Aug; 1(5):341-4. PubMed ID: 1302032
[TBL] [Abstract][Full Text] [Related]
9. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Probst FJ; Roeder ER; Enciso VB; Ou Z; Cooper ML; Eng P; Li J; Gu Y; Stratton RF; Chinault AC; Shaw CA; Sutton VR; Cheung SW; Nelson DL
Am J Med Genet A; 2007 Jun; 143A(12):1358-65. PubMed ID: 17506108
[TBL] [Abstract][Full Text] [Related]
10. Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.
Faust CJ; Verkerk AJ; Wilson PJ; Morris CP; Hopwood JJ; Oostra BA; Herman GE
Genomics; 1992 Apr; 12(4):814-7. PubMed ID: 1572654
[TBL] [Abstract][Full Text] [Related]
11. Mucopolysaccharidosis type II in females: case report and review of literature.
Tuschl K; Gal A; Paschke E; Kircher S; Bodamer OA
Pediatr Neurol; 2005 Apr; 32(4):270-2. PubMed ID: 15797184
[TBL] [Abstract][Full Text] [Related]
12. Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay.
Daly TM; Rafii A; Martin RA; Zehnbauer BA
J Mol Diagn; 2000 Aug; 2(3):128-31. PubMed ID: 11229516
[TBL] [Abstract][Full Text] [Related]
13. No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.
Chiurazzi P; de Graaff E; Ng J; Verkerk AJ; Wolfson S; Fisch GS; Kozak L; Neri G; Oostra BA
Am J Med Genet; 1994 Jul; 51(4):309-14. PubMed ID: 7942992
[TBL] [Abstract][Full Text] [Related]
14. Deletion in the FMR1 gene in a fragile-X male.
Mannermaa A; Pulkkinen L; Kajanoja E; Ryynänen M; Saarikoski S
Am J Med Genet; 1996 Aug; 64(2):293-5. PubMed ID: 8844068
[TBL] [Abstract][Full Text] [Related]
15. A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.
Wiegers AM; Curfs LM; Meijer H; Oostra B; Fryns JP
Genet Couns; 1994; 5(4):377-80. PubMed ID: 7888141
[TBL] [Abstract][Full Text] [Related]
16. Fragile X syndrome and deletions in FMR1: new case and review of the literature.
Hammond LS; Macias MM; Tarleton JC; Shashidhar Pai G
Am J Med Genet; 1997 Nov; 72(4):430-4. PubMed ID: 9375726
[TBL] [Abstract][Full Text] [Related]
17. Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.
Karsten SL; Lagerstedt K; Carlberg BM; Kleijer WJ; Zaremba J; Van Diggelen OP; Czartoryska B; Pettersson U; Bondeson ML
Genomics; 1997 Jul; 43(2):123-9. PubMed ID: 9244428
[TBL] [Abstract][Full Text] [Related]
18. Mosaicism for FMR1 and FMR2 deletion: a new case.
Fengler S; Fuchs S; König R; Arnemann J
J Med Genet; 2002 Mar; 39(3):200-1. PubMed ID: 11897824
[No Abstract] [Full Text] [Related]
19. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.
Honda S; Hayashi S; Kato M; Niida Y; Hayasaka K; Okuyama T; Imoto I; Mizutani S; Inazawa J
Am J Med Genet A; 2007 Apr; 143A(7):687-93. PubMed ID: 17343270
[TBL] [Abstract][Full Text] [Related]
20. Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
Melko M; Douguet D; Bensaid M; Zongaro S; Verheggen C; Gecz J; Bardoni B
Hum Mol Genet; 2011 May; 20(10):1873-85. PubMed ID: 21330300
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
