Ardalan A - Search Results

1

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. Portnoï MF, et al. Among authors: ardalan a. Am J Med Genet A. 2005 Aug 15;137(1):47-51. doi: 10.1002/ajmg.a.30847. Am J Med Genet A. 2005. PMID: 16007629 Review.

2

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. Portnoï MF, et al. Among authors: ardalan a. Clin Genet. 2000 Aug;58(2):116-22. doi: 10.1034/j.1399-0004.2000.580205.x. Clin Genet. 2000. PMID: 11005144

3

A new case of a severe clinical phenotype of the cat-eye syndrome.

Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF. Denavit TM, et al. Among authors: ardalan a. Genet Couns. 2004;15(4):443-8. Genet Couns. 2004. PMID: 15658620

4

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Sanlaville D, et al. Among authors: ardalan a. Am J Med Genet A. 2004 Jul 30;128A(3):325-30. doi: 10.1002/ajmg.a.30115. Am J Med Genet A. 2004. PMID: 15216557

5

Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20.

Ardalan A, Prieur M, Choiset A, Turleau C, Goutieres F, Girard-Orgeolet S. Ardalan A, et al. Am J Med Genet A. 2005 Oct 15;138A(3):288-93. doi: 10.1002/ajmg.a.30966. Am J Med Genet A. 2005. PMID: 16158442

6

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M. Doco-Fenzy M, et al. Among authors: ardalan a. Am J Med Genet A. 2006 Feb 1;140(3):212-21. doi: 10.1002/ajmg.a.31057. Am J Med Genet A. 2006. PMID: 16411218

7

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P. Desch L, et al. Among authors: ardalan a. Mol Cytogenet. 2015 Jun 25;8:42. doi: 10.1186/s13039-015-0151-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26110021 Free PMC article.

8

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).

Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M. Costes B, et al. Among authors: ardalan a. Clin Chem. 2000 Sep;46(9):1417-20. Clin Chem. 2000. PMID: 10973878 No abstract available.

9

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

Grangeia A, Niel F, Carvalho F, Fernandes S, Ardalan A, Girodon E, Silva J, Ferrás L, Sousa M, Barros A. Grangeia A, et al. Among authors: ardalan a. Hum Reprod. 2004 Nov;19(11):2502-8. doi: 10.1093/humrep/deh462. Epub 2004 Aug 27. Hum Reprod. 2004. PMID: 15333598

10

Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals.

Vavoulis DV, Cutts A, Thota N, Brown J, Sugar R, Rueda A, Ardalan A, Howard K, Matos Santo F, Sannasiddappa T, Miller B, Ash S, Liu Y, Song CX, Nicholson BD, Dreau H, Tregidgo C, Schuh A. Vavoulis DV, et al. Among authors: ardalan a. Nat Commun. 2025 Jan 8;16(1):430. doi: 10.1038/s41467-024-55428-y. Nat Commun. 2025. PMID: 39779727 Free PMC article.

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