383 related articles for article (PubMed ID: 11494748)
1. [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
Mergenthaler S; Dobos M; Wollmann H; Eggermann K; Schwanitz G; Eggermann T
Orv Hetil; 2001 Jul; 142(29):1561-4. PubMed ID: 11494748
[TBL] [Abstract][Full Text] [Related]
2. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
Ginsburg C; Fokstuen S; Schinzel A
Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
[TBL] [Abstract][Full Text] [Related]
3. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
Miyoshi O; Kondoh T; Taneda H; Otsuka K; Matsumoto T; Niikawa N
J Med Genet; 1999 Apr; 36(4):326-9. PubMed ID: 10227403
[TBL] [Abstract][Full Text] [Related]
4. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
Behnecke A; Hinderhofer K; Jauch A; Janssen JW; Moog U
Clin Genet; 2012 Nov; 82(5):494-8. PubMed ID: 21954990
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
Bernard LE; Peñaherrera MS; Van Allen MI; Wang MS; Yong SL; Gareis F; Langlois S; Robinson WP
Am J Med Genet; 1999 Nov; 87(3):230-6. PubMed ID: 10564876
[TBL] [Abstract][Full Text] [Related]
6. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.
Eggermann T; Wollmann HA; Kuner R; Eggermann K; Enders H; Kaiser P; Ranke MB
Hum Genet; 1997 Sep; 100(3-4):415-9. PubMed ID: 9272165
[TBL] [Abstract][Full Text] [Related]
7. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
Eggermann T; Gonzalez D; Spengler S; Arslan-Kirchner M; Binder G; Schönherr N
Pediatrics; 2009 May; 123(5):e929-31. PubMed ID: 19364767
[TBL] [Abstract][Full Text] [Related]
8. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
Font-Montgomery E; Stone KM; Weaver DD; Vance GH; Das S; Thurston VC
Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):577-82. PubMed ID: 16007591
[TBL] [Abstract][Full Text] [Related]
9. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
Bullman H; Lever M; Robinson DO; Mackay DJ; Holder SE; Wakeling EL
J Med Genet; 2008 Jun; 45(6):396-9. PubMed ID: 18474587
[TBL] [Abstract][Full Text] [Related]
10. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.
Kotzot D
Eur J Med Genet; 2008; 51(5):444-51. PubMed ID: 18655849
[TBL] [Abstract][Full Text] [Related]
11. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
Eggermann T; Meyer E; Obermann C; Heil I; Schüler H; Ranke MB; Eggermann K; Wollmann HA
J Med Genet; 2005 May; 42(5):e26. PubMed ID: 15863658
[TBL] [Abstract][Full Text] [Related]
12. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
Dupont JM; Cuisset L; Cartigny M; Le Tessier D; Vasseur C; Rabineau D; Jeanpierre M
Am J Med Genet; 2002 Sep; 111(4):405-8. PubMed ID: 12210300
[TBL] [Abstract][Full Text] [Related]
13. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
Flori E; Girodon E; Samama B; Becmeur F; Viville B; Girard-Lemaire F; Doray B; Schluth C; Marcellin L; Boehm N; Goossens M; Pingault V
Eur J Hum Genet; 2005 Sep; 13(9):1013-8. PubMed ID: 15915162
[TBL] [Abstract][Full Text] [Related]
14. The genetic aetiology of Silver-Russell syndrome.
Abu-Amero S; Monk D; Frost J; Preece M; Stanier P; Moore GE
J Med Genet; 2008 Apr; 45(4):193-9. PubMed ID: 18156438
[TBL] [Abstract][Full Text] [Related]
15. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
Preece MA; Abu-Amero SN; Ali Z; Abu-Amero KK; Wakeling EL; Stanier P; Moore GE
J Med Genet; 1999 Jun; 36(6):457-60. PubMed ID: 10874633
[TBL] [Abstract][Full Text] [Related]
16. No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients.
Schöherr N; Jäger S; Ranke MB; Wollmann HA; Binder G; Eggermann T
Eur J Med Genet; 2008; 51(4):322-4. PubMed ID: 18585117
[TBL] [Abstract][Full Text] [Related]
17. Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.
Vardi O; Davidovitch M; Vinkler C; Michelson M; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2012 Jan; 16(1):95-8. PubMed ID: 21752678
[TBL] [Abstract][Full Text] [Related]
18. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.
Spengler S; Schönherr N; Binder G; Wollmann HA; Fricke-Otto S; Mühlenberg R; Denecke B; Baudis M; Eggermann T
J Med Genet; 2010 May; 47(5):356-60. PubMed ID: 19762329
[TBL] [Abstract][Full Text] [Related]
19. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
Eggermann T; Schönherr N; Eggermann K; Buiting K; Ranke MB; Wollmann HA; Binder G
Clin Genet; 2008 Jan; 73(1):79-84. PubMed ID: 18070127
[TBL] [Abstract][Full Text] [Related]
20. A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
Moore MW; Dietz LG; Tirtorahardjo B; Cotter PD
Hum Mutat; 2003 Jun; 21(6):645-8. PubMed ID: 12754712
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
