Publications by authors named "Aziza Lebbar"

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A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
Arthur Clement, Théo Dominot, Jeremy Chammas, Martine Montagnon, Marie Delcroix, Aziza Lebbar

Genes (Basel)· December 2022

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Optical genome mapping enables constitutional chromosomal aberration detection.
Tuomo Mantere, Kornelia Neveling, Céline Pebrel-Richard, Marion Benoist, Guillaume van der Zande, Aziza Lebbar

Am J Hum Genet· August 2021

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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Aziza Lebbar

J Med Genet· May 2020

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Aziza Lebbar

J Med Genet· August 2019

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A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Fatma Abdelhedi, Laila El Khattabi, Nouha Essid, Geraldine Viot, Dominique Letessier, Aziza Lebbar

Am J Med Genet A· July 2016

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Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Laïla El Khattabi, Sylvie Jaillard, Joris Andrieux, Laurent Pasquier, Laurence Perrin, Aziza Lebbar

Am J Med Genet A· June 2015

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Unusual isochromosome 5p marker chromosome.
Fanny Roulet-Coudrier, Amine Rouibi, Clotilde Thuillier, Sylvie Bourthoumieu, Aziza Lebbar

Am J Med Genet A· February 2015

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Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
Fatma Abdelhedi, Laila El Khattabi, Laurence Cuisset, Vassilis Tsatsaris, Geraldine Viot, Aziza Lebbar

Am J Clin Pathol· August 2014

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Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?
Patrice Gaudry, Maxime Esvan, Jean-Baptiste Meynard, Aziza Lebbar, Agnès Choiset

Fetal Diagn Ther· November 2012

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Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Benjamin Morris, Cécile Etoubleau, Sylvie Bourthoumieu, Sandrine Reynaud-Perrine, Cécile Laroche, Aziza Lebbar

Am J Med Genet A· August 2012

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Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
Andreea Cristina Tuţulan-Cuniţă, Magdalena Budişteanu, Sorina Mihaela Papuc, Jean-Michel Dupont, Dominique Blancho, Aziza Lebbar

Psychiatry Res· May 2012

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First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
Fatma Abdelhedi, Johanna Corcos, Laurence Cuisset, Vassilis Tsatsaris, Julia Tantau, Aziza Lebbar

Am J Med Genet A· March 2012

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Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.
Sandrine Leclercq, Jacques Auger, Céline Dupont, Dominique Le Tessier, Aziza Lebbar

Eur J Med Genet· October 2010

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Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.
Sandrine Leclercq, Kim Maincent, Françoise Baverel, Dominique Le Tessier, Franck Letourneur, Aziza Lebbar

Am J Med Genet A· March 2009

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Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.
Aziza Lebbar, Patrick Callier, Françoise Baverel, Nathalie Marle, Catherine Patrat

Am J Med Genet A· October 2008

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Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.
Sandrine Leclercq, Aziza Lebbar, Gilles Grange, Vassilis Tsatsaris, Dominique Le Tessier

Prenat Diagn· April 2008

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First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.
Celine Dupont, Aziza Lebbar, Cecile Teinturier, Françoise Baverel, Geraldine Viot

Am J Med Genet A· June 2007

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Pure familial 6q21q22.1 duplication in two generations.
Mohammad Pazooki, Aziza Lebbar, Anne Roubergues, Francoise Baverel, Dominique Letessier

Eur J Med Genet· March 2007

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