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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Among authors: monk d. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.
The search for the gene for Silver-Russell syndrome.
Moore GE, Abu-Amero S, Wakeling E, Hitchins M, Monk D, Stanier P, Preece M. Moore GE, et al. Among authors: monk d. Acta Paediatr Suppl. 1999 Dec;88(433):42-8. doi: 10.1111/j.1651-2227.1999.tb14402.x. Acta Paediatr Suppl. 1999. PMID: 10626544 Review.
Silver-Russell syndrome and ring chromosome 7.
Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA. Wakeling EL, et al. Among authors: monk d. J Med Genet. 2000 May;37(5):380. doi: 10.1136/jmg.37.5.380. J Med Genet. 2000. PMID: 10905891 Free PMC article. No abstract available.
No evidence for mosaicism in Silver-Russell syndrome.
Monk D, Hitchins M, Russo S, Preece M, Stanier P, Moore GE. Monk D, et al. J Med Genet. 2001 Apr;38(4):E11. doi: 10.1136/jmg.38.4.e11. J Med Genet. 2001. PMID: 11283207 Free PMC article. No abstract available.
218 results