Publications by authors named "Brigitte Benzacken"

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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, Brigitte Benzacken

J Med Genet· May 2020

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New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Lise Larcher, Julien Buratti, Bénédicte Héron-Longe, Brigitte Benzacken, Eva Pipiras

Clin Genet· April 2020

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Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Brigitte Benzacken

NPJ Genom Med· July 2019

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Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Brigitte Benzacken

Hum Mutat· March 2018

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Brigitte Benzacken

NPJ Genom Med· October 2017

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Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Brigitte Benzacken

Am J Med Genet A· August 2017

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Brigitte Benzacken

Eur J Hum Genet· August 2015

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Brigitte Benzacken

Prenat Diagn· August 2015

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Nicolas Chatron, Véronique Haddad, Joris Andrieux, Julie Désir, Odile Boute, Brigitte Benzacken

Am J Med Genet A· May 2015

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Anne-Claude Tabet, Alain Verloes, Marion Pilorge, Elsa Delaby, Richard Delorme, Brigitte Benzacken

Mol Autism· April 2015

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Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Sylvie Jaillard, Jérôme Toutain, Brigitte Benzacken

Prenat Diagn· January 2015

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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Celine Dupont, Martine Bucourt, Fabien Guimiot, Lilia Kraoua, Daniel Smiljkovski, Brigitte Benzacken

Mol Cytogenet· October 2014

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De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Anne-Claude Tabet, Camille Leroy, Céline Dupont, Emilie Serrano, Karen Hernandez, Brigitte Benzacken

Am J Med Genet A· September 2014

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Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.
Dimitri Renard, Manuele Miné, Eva Pipiras, Pierre Labauge, Andrée Delahaye, Brigitte Benzacken

Neurology· September 2014

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High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.
Dominique Roulot, Valérie Malan, Marianne Ziol, Agnès Linglart, Valérie Bourcier, Brigitte Benzacken

J Clin Endocrinol Metab· August 2014

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COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
Céline Dupont, Clarisse Baumann, Nathalie Le Du, Elise Schaefer, Fabien Guimiot, Brigitte Benzacken

Am J Med Genet A· October 2013

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Obesity leads to higher risk of sperm DNA damage in infertile patients.
Charlotte Dupont, Céline Faure, Nathalie Sermondade, Marouane Boubaya, Florence Eustache, Brigitte Benzacken

Asian J Androl· September 2013

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Spontaneous conception after autologous hematopoietic stem cell transplantation: a case report.
Charlotte Dupont, Cécile Bally, Florence Eustache, Nathalie Sermondade, Brigitte Benzacken

Asian J Androl· January 2013

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Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Mariem Ben Khelifa, Charles Coutton, Michael G B Blum, Farid Abada, Radu Harbuz, Brigitte Benzacken

Hum Reprod· November 2012

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Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Andrée Delahaye, Suonavy Khung-Savatovsky, Azzedine Aboura, Fabien Guimiot, Séverine Drunat, Brigitte Benzacken

Am J Med Genet A· October 2012

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Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Jérôme Rambaud, Isabelle Marey, Céline Dupont, Laurence Perrin-Sabourin, Yline Capri, Brigitte Benzacken

Am J Med Genet A· September 2012

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Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.
Marie Devernay, Diana Bolca, Lamia Kerdjana, Azzedine Aboura, Bénédicte Gérard, Brigitte Benzacken

J Clin Endocrinol Metab· July 2012

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Chromosomal microarray analysis in ocular developmental anomalies.
Andrée Delahaye, Eva Pipiras, Brigitte Benzacken

Expert Rev Mol Diagn· June 2012

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Brigitte Benzacken

Eur J Hum Genet· May 2012

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Allen N Lamb, Jill A Rosenfeld, Nicholas J Neill, Michael E Talkowski, Ian Blumenthal, Brigitte Benzacken

Hum Mutat· April 2012

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