Publications by authors named "Alexandre Moerman"

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Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
Anne-Laure Barbotin, Angèle Boursier, Anne-Sophie Jourdain, Alexandre Moerman, Baptiste Rabat

J Assist Reprod Genet· June 2024

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Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Angèle Boursier, Augustin Boudry, Valérie Mitchell, Anne Loyens, Nathalie Rives, Alexandre Moerman

Reprod Biomed Online· November 2023

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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Alexandre Moerman

J Clin Med· May 2020

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Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.
Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman

Orphanet J Rare Dis· February 2019

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Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Marie Joncquel-Chevalier Curt, Marie-Adélaïde Bout, Monique Fontaine, Isabelle Kim, Guillemette Huet, Alexandre Moerman

Mol Genet Metab· April 2018

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Alexandre Moerman

Acta Neuropathol· December 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, Alexandre Moerman

Eur J Hum Genet· August 2015

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire de Barace, Alexandre Moerman

Eur J Hum Genet· August 2013

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Alexandre Moerman

Nature· August 2011

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Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.
Florence Petit, Jean-Marie Cuisset, Nathalie Rouaix-Emery, Claude Cancés, Bernard Sablonnière, Alexandre Moerman

Muscle Nerve· January 2011

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Alexandre Moerman

PLoS Genet· October 2006

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Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.
Anne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, Odile Boute, Pierre Maroteaux

Am J Med Genet A· January 2004

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Early onset brain tumor and lymphoma in MSH2-deficient children.
Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M Ruchoux

Am J Hum Genet· January 2003

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