Dupont C - Search Results

1

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

Bélien V, Gérard-Blanluet M, Serero S, Le Dû N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A. Bélien V, et al. Among authors: dupont c. Am J Med Genet A. 2008 Jul 15;146A(14):1871-4. doi: 10.1002/ajmg.a.32392. Am J Med Genet A. 2008. PMID: 18553551

2

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. Dupont C, et al. Eur J Hum Genet. 2003 Jun;11(6):452-6. doi: 10.1038/sj.ejhg.5200984. Eur J Hum Genet. 2003. PMID: 12774038

3

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM. Dupont C, et al. Among authors: dupont jm. Am J Med Genet A. 2007 Jun 1;143A(11):1236-43. doi: 10.1002/ajmg.a.31744. Am J Med Genet A. 2007. PMID: 17497716

4

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E. Dupont C, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. Am J Med Genet A. 2008. PMID: 18925677 No abstract available.

5

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C. Tabet AC, et al. Among authors: dupont c. Am J Med Genet A. 2010 Jul;152A(7):1781-8. doi: 10.1002/ajmg.a.33433. Am J Med Genet A. 2010. PMID: 20583184 Free PMC article.

6

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, Tabet AC, Amselem S, Elion J, Gressens P, Pipiras E, Benzacken B. Delahaye A, et al. Among authors: dupont c. Eur J Hum Genet. 2012 May;20(5):527-33. doi: 10.1038/ejhg.2011.233. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234157 Free PMC article.

7

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F. Spaggiari E, et al. Among authors: dupont c. Eur J Med Genet. 2012 Aug-Sep;55(8-9):498-501. doi: 10.1016/j.ejmg.2012.04.006. Epub 2012 May 5. Eur J Med Genet. 2012. PMID: 22569119

8

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M. Rambaud J, et al. Among authors: dupont c. Am J Med Genet A. 2012 Sep;158A(9):2277-82. doi: 10.1002/ajmg.a.35494. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821638

9

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL. Spaggiari E, et al. Among authors: dupont c. Eur J Med Genet. 2013 Jun;56(6):297-300. doi: 10.1016/j.ejmg.2013.03.003. Epub 2013 Mar 21. Eur J Med Genet. 2013. PMID: 23523603

10

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC. Dupont C, et al. Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918474 No abstract available.

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