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43 results
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Inherited ring chromosome 8 without loss of subtelomeric sequences.
Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Le Caignec C, et al. Among authors: rival jm. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.
Luquet I, Mugneret F, Athis PD, Nadal N, Favre B, Abel C, Chelloug N, Lespinasse J, Portnoi MF, Joyé N, Dupont JM, Lebbar A, Bresson JL, Fellmann F, Siffroi JP, Chantot-Bastaraud S, Chiesa J, Amblard F, Devillard F, Jeandidier E, Boceno M, Rival JM, Bellec V, Lallaoui H, Delobel B, Croquette MF, Benzacken B. Luquet I, et al. Among authors: rival jm. Ann Genet. 2002 Apr-Jun;45(2):77-88. doi: 10.1016/s0003-3995(02)01118-8. Ann Genet. 2002. PMID: 12119216 Review.
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: rival jm. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413
Complete sex reversal in a WAGR syndrome patient.
Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM. Le Caignec C, et al. Among authors: rival jm. Am J Med Genet A. 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. Am J Med Genet A. 2007. PMID: 17935232
High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Among authors: rival jm. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.
Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM. Isidor B, et al. Among authors: rival jm. Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12. Eur J Med Genet. 2008. PMID: 18282818
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