Aboura A - Search Results

1

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Poüs C, Labrune P. Petit FM, et al. Among authors: aboura a. Eur J Hum Genet. 2005 Mar;13(3):278-82. doi: 10.1038/sj.ejhg.5201342. Eur J Hum Genet. 2005. PMID: 15586176

2

Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

Tachdjian G, Aboura A, Brisset S, Dommergues M, Gajdos V, Labrune P. Tachdjian G, et al. Among authors: aboura a. Fetal Diagn Ther. 2006;21(5):428-32. doi: 10.1159/000093885. Fetal Diagn Ther. 2006. PMID: 16912492

3

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G. L'Herminé AC, et al. Among authors: aboura a. Prenat Diagn. 2003 Nov;23(11):938-43. doi: 10.1002/pd.732. Prenat Diagn. 2003. PMID: 14634983

4

Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12.

L'herminé-Coulomb A, Houyel L, Aboura A, Audibert F, Dal Soglio D, Tachdjian G. L'herminé-Coulomb A, et al. Among authors: aboura a. Prenat Diagn. 2004 Sep;24(9):708-12. doi: 10.1002/pd.970. Prenat Diagn. 2004. PMID: 15386448

5

De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.

Aboura A, Coulomb-L'Herminé A, Audibert F, Capron F, Frydman R, Tachdjian G. Aboura A, et al. Am J Med Genet. 2002 Mar 1;108(2):153-9. doi: 10.1002/ajmg.10219. Am J Med Genet. 2002. PMID: 11857566

6

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern.

Tachdjian G, Aboura A, Benkhalifa M, Creveaux I, Foix-Hélias L, Gadisseux JF, Boespflug-Tanguy O, Mohammed M, Labrune P. Tachdjian G, et al. Among authors: aboura a. Am J Med Genet A. 2004 Dec 15;131(3):273-80. doi: 10.1002/ajmg.a.30359. Am J Med Genet A. 2004. PMID: 15526291

7

Terminal 14q32.33 deletion: genotype-phenotype correlation.

Maurin ML, Brisset S, Le Lorc'h M, Poncet V, Trioche P, Aboura A, Labrune P, Tachdjian G. Maurin ML, et al. Among authors: aboura a. Am J Med Genet A. 2006 Nov 1;140(21):2324-9. doi: 10.1002/ajmg.a.31438. Am J Med Genet A. 2006. PMID: 17022077 Review.

8

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.

Mabboux P, Brisset S, Aboura A, Pineau D, Koubi V, Joannidis S, Labrune P, Tachdjian G. Mabboux P, et al. Among authors: aboura a. Am J Med Genet A. 2007 Apr 1;143A(7):727-33. doi: 10.1002/ajmg.a.31633. Am J Med Genet A. 2007. PMID: 17330860

9

Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection?

Petit FM, Frydman N, Benkhalifa M, Le Du A, Aboura A, Fanchin R, Frydman R, Tachdjian G. Petit FM, et al. Among authors: aboura a. J Androl. 2005 Mar-Apr;26(2):235-41. doi: 10.1002/j.1939-4640.2005.tb01090.x. J Androl. 2005. PMID: 15713829 Free article.

10

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.

Brisset S, Aboura A, Audibert F, Costa JM, L'Herminé AC, Gautier V, Frydman R, Tachdjian G. Brisset S, et al. Among authors: aboura a. Prenat Diagn. 2003 Jun;23(6):461-9. doi: 10.1002/pd.620. Prenat Diagn. 2003. PMID: 12813759

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