113 related articles for article (PubMed ID: 12387515)
1. Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome.
Binder G; Mavridou K; Wollmann HA; Eggermann T; Ranke MB
J Pediatr Endocrinol Metab; 2002; 15(8):1167-71. PubMed ID: 12387515
[TBL] [Abstract][Full Text] [Related]
2. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.
Binder G; Seidel AK; Martin DD; Schweizer R; Schwarze CP; Wollmann HA; Eggermann T; Ranke MB
J Clin Endocrinol Metab; 2008 Apr; 93(4):1402-7. PubMed ID: 18230663
[TBL] [Abstract][Full Text] [Related]
3. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.
Hitchins MP; Stanier P; Preece MA; Moore GE
J Med Genet; 2001 Dec; 38(12):810-9. PubMed ID: 11748303
[TBL] [Abstract][Full Text] [Related]
4. IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.
Binder G; Seidel AK; Weber K; Haase M; Wollmann HA; Ranke MB; Eggermann T
J Clin Endocrinol Metab; 2006 Nov; 91(11):4709-12. PubMed ID: 16940449
[TBL] [Abstract][Full Text] [Related]
5. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.
Joyce CA; Sharp A; Walker JM; Bullman H; Temple IK
Hum Genet; 1999 Sep; 105(3):273-80. PubMed ID: 10987657
[TBL] [Abstract][Full Text] [Related]
6. Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.
Abu-Amero S; Price S; Wakeling E; Stanier P; Trembath R; Preece MA; Moore GE
Eur J Hum Genet; 1997; 5(4):235-41. PubMed ID: 9359045
[TBL] [Abstract][Full Text] [Related]
7. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.
Hitchins MP; Monk D; Bell GM; Ali Z; Preece MA; Stanier P; Moore GE
Eur J Hum Genet; 2001 Feb; 9(2):82-90. PubMed ID: 11313740
[TBL] [Abstract][Full Text] [Related]
8. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.
Hannula K; Lipsanen-Nyman M; Kristo P; Kaitila I; Simola KO; Lenko HL; Tapanainen P; Holmberg C; Kere J
Pediatrics; 2002 Mar; 109(3):441-8. PubMed ID: 11875139
[TBL] [Abstract][Full Text] [Related]
9. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
Riesewijk AM; Blagitko N; Schinzel AA; Hu L; Schulz U; Hamel BC; Ropers HH; Kalscheuer VM
Eur J Hum Genet; 1998; 6(2):114-20. PubMed ID: 9781054
[TBL] [Abstract][Full Text] [Related]
10. Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients.
Eggermann K; Wollmann HA; Tomiuk J; Ranke MB; Kaiser P; Eggermann T
Hum Hered; 1999 Jun; 49(3):123-8. PubMed ID: 10364674
[TBL] [Abstract][Full Text] [Related]
11. IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation.
Iliev DI; Kannenberg K; Weber K; Binder G
Growth Horm IGF Res; 2014 Oct; 24(5):187-91. PubMed ID: 25066218
[TBL] [Abstract][Full Text] [Related]
12. LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.
Jäger S; Schönherr N; Spengler S; Ranke MB; Wollmann HA; Binder G; Eggermann T
J Pediatr Endocrinol Metab; 2009 Jun; 22(6):555-9. PubMed ID: 19694203
[TBL] [Abstract][Full Text] [Related]
13. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
Monk D; Bentley L; Hitchins M; Myler RA; Clayton-Smith J; Ismail S; Price SM; Preece MA; Stanier P; Moore GE
Hum Genet; 2002 Oct; 111(4-5):376-87. PubMed ID: 12384779
[TBL] [Abstract][Full Text] [Related]
14. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
Rogan PK; Seip JR; Driscoll DJ; Papenhausen PR; Johnson VP; Raskin S; Woodward AL; Butler MG
Am J Med Genet; 1996 Mar; 62(1):10-5. PubMed ID: 8779316
[TBL] [Abstract][Full Text] [Related]
15. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Abuzzahab MJ; Schneider A; Goddard A; Grigorescu F; Lautier C; Keller E; Kiess W; Klammt J; Kratzsch J; Osgood D; Pfäffle R; Raile K; Seidel B; Smith RJ; Chernausek SD;
N Engl J Med; 2003 Dec; 349(23):2211-22. PubMed ID: 14657428
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
Netchine I; Rossignol S; Dufourg MN; Azzi S; Rousseau A; Perin L; Houang M; Steunou V; Esteva B; Thibaud N; Demay MC; Danton F; Petriczko E; Bertrand AM; Heinrichs C; Carel JC; Loeuille GA; Pinto G; Jacquemont ML; Gicquel C; Cabrol S; Le Bouc Y
J Clin Endocrinol Metab; 2007 Aug; 92(8):3148-54. PubMed ID: 17504900
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. 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]
20. 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]
[Next] [New Search]