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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B. Doco-Fenzy M, et al. Among authors: de martinville b. Am J Med Genet A. 2008 Apr 1;146A(7):917-24. doi: 10.1002/ajmg.a.32195. Am J Med Genet A. 2008. PMID: 18327785
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.
Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG. Luciani JJ, et al. Among authors: de martinville b. J Med Genet. 2003 Sep;40(9):690-6. doi: 10.1136/jmg.40.9.690. J Med Genet. 2003. PMID: 12960216 Free PMC article. No abstract available.
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
Simonin C, Devos D, Vuillaume I, de Martinville B, Sablonnière B, Destée A, Stoppa-Lyonnet D, Defebvre L. Simonin C, et al. Among authors: de martinville b. J Neurol. 2008 Aug;255(8):1261-3. doi: 10.1007/s00415-008-0857-z. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575927 No abstract available.
41 results