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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T. Eggermann K, et al. Among authors: monk d. Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165005 Free PMC article.
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.
Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?
Mergenthaler S, Hitchins MP, Blagitko-Dorfs N, Monk D, Wollmann HA, Ranke MB, Ropers HH, Apostolidou S, Stanier P, Preece MA, Eggermann T, Kalscheuer VM, Moore GE. Mergenthaler S, et al. Among authors: monk d. Am J Hum Genet. 2001 Feb;68(2):543-5. doi: 10.1086/318192. Am J Hum Genet. 2001. PMID: 11170901 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.
212 results