Aboura A - Search Results

1

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.

2

Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.

Haddad V, Aboura A, Tosca L, Guediche N, Mas AE, L'Herminé AC, Druart L, Picone O, Brisset S, Tachdjian G. Haddad V, et al. Among authors: aboura a. Am J Med Genet A. 2012 Apr;158A(4):894-900. doi: 10.1002/ajmg.a.35258. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419357

3

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

4

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

5

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

6

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

7

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

8

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).

L'Herminé AC, Aboura A, Simon-Bouy B, Robin F, Audibert F, Strouk N, Capron F, Frydman R, Tachdjian G. L'Herminé AC, et al. Among authors: aboura a. Prenat Diagn. 2002 Aug;22(8):652-5. doi: 10.1002/pd.353. Prenat Diagn. 2002. PMID: 12210571

9

Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation.

Aboura A, Labrune P, Perreaux F, Poncet V, Brisset S, Foix-L'Helias L, Tachdjian G. Aboura A, et al. J Med Genet. 2003 Jan;40(1):e6. doi: 10.1136/jmg.40.1.e6. J Med Genet. 2003. PMID: 12525554 Free PMC article. No abstract available.

10

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

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