The Genetics of the Silver-Russell Syndrome

Overview

Journal Rev Endocr Metab Disord

Publisher Springer

Specialty Endocrinology

Date 2002 Nov 9

PMID 12424439

Authors

Michael A Preece

Affiliations

Soon will be listed here.

References

Schinzel A, Robinson W, Binkert F, FANCONI A . An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Clin Dysmorphol. 1994; 3(1):63-9. View

Ramirez-Duenas M, Medina C, Rivera H . Severe Silver-Russell syndrome and translocation (17;20) (q25;q13). Clin Genet. 1992; 41(1):51-3. DOI: 10.1111/j.1399-0004.1992.tb03630.x. View

Eggermann K, Wollmann H, Binder G, Kaiser P, Ranke M, Eggermann T . Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. Ann Genet. 1999; 42(2):117-21. View

Wakeling E, Abu-Amero S, Stanier P, Preece M, Moore G . Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur J Hum Genet. 1998; 6(2):158-64. DOI: 10.1038/sj.ejhg.5200179. View

Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O . Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet. 1997; 6(5):781-6. DOI: 10.1093/hmg/6.5.781. View

Piras G, El Kharroubi A, Kozlov S, Escalante-Alcalde D, Hernandez L, Copeland N . Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Mol Cell Biol. 2000; 20(9):3308-15. PMC: 85624. DOI: 10.1128/MCB.20.9.3308-3315.2000. View

Eggermann T, Wollmann H, Kuner R, Eggermann K, Enders H, Kaiser P . Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. 1997; 100(3-4):415-9. DOI: 10.1007/s004390050526. View

Rogan P, Seip J, Driscoll D, Papenhausen P, Johnson V, Raskin S . Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet. 1996; 62(1):10-5. PMC: 5986579. DOI: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#. View

Kotzot D, Schmitt S, Bernasconi F, Robinson W, Lurie I, Ilyina H . Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet. 1995; 4(4):583-7. DOI: 10.1093/hmg/4.4.583. View

10.

Riesewijk A, Blagitko N, Schinzel A, Hu L, Schulz U, Hamel B . Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J Hum Genet. 1998; 6(2):114-20. DOI: 10.1038/sj.ejhg.5200164. View

11.

Hitchins M, Bentley L, Monk D, Beechey C, Peters J, Kelsey G . DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome. 2003; 13(12):686-91. DOI: 10.1007/s00335-002-3028-z. View

12.

Handwerger S . Clinical counterpoint: the physiology of placental lactogen in human pregnancy. Endocr Rev. 1991; 12(4):329-36. DOI: 10.1210/edrv-12-4-329. View

13.

Al-Fifi S, Teebi A, Shevell M . Autosomal dominant Russell-Silver syndrome. Am J Med Genet. 1996; 61(1):96-7. DOI: 10.1002/ajmg.1320610108. View

14.

Monk D, Hitchins M, Russo S, Preece M, Stanier P, Moore G . No evidence for mosaicism in Silver-Russell syndrome. J Med Genet. 2001; 38(4):E11. PMC: 1734842. DOI: 10.1136/jmg.38.4.e11. View

15.

Beechey C . Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet Cell Genet. 2000; 90(3-4):309-14. DOI: 10.1159/000056794. View

16.

Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K . Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol. 1993; 2(2):106-13. View

17.

Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G . Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet. 1998; 79(5):347-53. DOI: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. View

18.

MCNALLY E, Ly C, Kunkel L . Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett. 1998; 422(1):27-32. DOI: 10.1016/s0014-5793(97)01593-7. View

19.

Eggermann K, Wollmann H, Tomiuk J, Ranke M, Kaiser P, Eggermann T . Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients. Hum Hered. 1999; 49(3):123-8. DOI: 10.1159/000022858. View

20.

Morison I, Reeve A . A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet. 1998; 7(10):1599-609. DOI: 10.1093/hmg/7.10.1599. View