Tabet AC - 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: tabet ac. 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

Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies.

Tabet AC, Aboura A, Dauge MC, Audibert F, Coulomb A, Batallan A, Couturier-Turpin MH, Feldmann G, Tachdjian G. Tabet AC, et al. Prenat Diagn. 2001 Aug;21(8):613-8. doi: 10.1002/pd.115. Prenat Diagn. 2001. PMID: 11536256

3

Prenatal diagnosis and characterization of an analphoid marker chromosome 16.

Tabet AC, Gosset P, Elghezal H, Fontaine S, Martinovic J, Encha Razavi F, Romana S, Vekemans M, Morichon-Delvallez N. Tabet AC, et al. Prenat Diagn. 2004 Sep;24(9):733-6. doi: 10.1002/pd.804. Prenat Diagn. 2004. PMID: 15386469

4

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Karmous-Benailly H, Tabet AC, Thaly A, Dupuy O, Huten Y, Luton D, Baumann C, Delezoide AL. Karmous-Benailly H, et al. Among authors: tabet ac. Prenat Diagn. 2005 Mar;25(3):193-7. doi: 10.1002/pd.1102. Prenat Diagn. 2005. PMID: 15791668

5

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.

Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largillière C, Garel C, Gressens P, Bucourt M, Cedrin-Durnerin I, Lachassinne E, Roumegoux C, Uzan M, Hugues JN, Wolf JP, Benzacken B. Kanafani S, et al. Among authors: tabet ac. Prenat Diagn. 2007 Mar;27(3):279-84. doi: 10.1002/pd.1639. Prenat Diagn. 2007. PMID: 17269127

6

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. Among authors: tabet ac. 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.

7

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S. Delahaye A, et al. Among authors: tabet ac. Eur J Med Genet. 2009 Sep-Oct;52(5):328-32. doi: 10.1016/j.ejmg.2009.05.004. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454329

8

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A. Guilherme R, et al. Among authors: tabet ac. Am J Med Genet A. 2009 Dec;149A(12):2892-7. doi: 10.1002/ajmg.a.33135. Am J Med Genet A. 2009. PMID: 19938079 No abstract available.

9

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, Aboura A. Rifai L, et al. Among authors: tabet ac. Am J Med Genet A. 2010 Jan;152A(1):111-7. doi: 10.1002/ajmg.a.33164. Am J Med Genet A. 2010. PMID: 20034071

10

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. 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.

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