Publications by authors named "Azarnouche Ardalan"

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6
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Azarnouche Ardalan

Mol Cytogenet· June 2015

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Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
Martine Doco-Fenzy, Pierre Mauran, Jean Marie Lebrun, Sylvie Bock, Nathalie Bednarek, Azarnouche Ardalan

Am J Med Genet A· February 2006

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Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20.
Azarnouche Ardalan, Marguerite Prieur, Agnès Choiset, Catherine Turleau, Françoise Goutieres

Am J Med Genet A· October 2005

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22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
Marie-France Portnoï, Fanny Lebas, Nicolas Gruchy, Azarnouche Ardalan, Valérie Biran-Mucignat

Am J Med Genet A· August 2005

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Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.
Ana Grangeia, Florence Niel, Filipa Carvalho, Susana Fernandes, Azarnouche Ardalan

Hum Reprod· November 2004

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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
Damien Sanlaville, François Vialard, François Thépot, Luce Vue-Droy, Azarnouche Ardalan

Am J Med Genet A· July 2004

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