Publications by authors named "Mouna Amor"

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Corrigendum to "A novel RORA genetic variant associated with early-onset obesity and insomnia".
Alexie Ouellette, Eric P Allain, Abdullah Almaghraby, Dominique Bouhamdani, Mouna Ben Amor

Eur J Med Genet· December 2025

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A novel RORA genetic variant associated with early-onset obesity and insomnia.
Alexie Ouellette, Eric P Allain, Abdullah Almaghraby, Dominique Bouhamdani, Mouna Ben Amor

Eur J Med Genet· August 2025

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The Reclassification of a Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.
Dominique Bouhamdani, Véronique Allain, Nadia Bouhamdani, Mouna Ben Amor

Case Rep Med· June 2025

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Retrospective Study of Genetic Testing Results Reveals Pathogenic Variants Beyond BRCA1/2 in Hereditary Breast and Ovarian Cancer Cases in New Brunswick: Implications for Future Care.
Kelly Gauvin, Véronique Allain, Nadia Bouhamdani, Chloe Williams, Yanis Saheb, Mouna Ben Amor

Cancer Med· February 2025

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Identification of an intronic insertion in the gene associated with autosomal recessive spinocerebellar ataxia type 8.
Maryse Gagnon, Nadia Bouhamdani, Dimiter P Kolev, S Hussain Askree, Mouna Ben Amor

Genet Med Open· September 2024

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Expanding the phenotypic spectrum for CDK8-related disease: A case report.
Dominique Comeau, Jenna Belliveau, Nadia Bouhamdani, Mouna Ben Amor

Am J Med Genet A· May 2024

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Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.
Nadia Bouhamdani, Haley McConkey, Amélie Leblanc, Bekim Sadikovic, Mouna Ben Amor

Front Genet· February 2024

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Dividend policy and crisis: Exploring the interplay between performance and financial constraints in the French context.
Saliha Theiri, Salah Ben Hamad, Mouna Ben Amor

Heliyon· October 2023

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Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.
Dominique Comeau, Véronique Allain, Nicole Maillet-Lebel, Mouna Ben Amor

Eur J Med Genet· August 2023

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A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
Laure LeBreton, Eric P Allain, Radu Christian Parscan, Nicolas Crapoulet, Abdullah Almaghraby, Mouna Ben Amor

Am J Med Genet A· April 2023

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A 132 bp deletion affecting the gene associated with Silver-Russell syndrome clinical phenotype.
Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor

J Med Genet· February 2023

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Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Jacob Saucier, Mohammad Al-Qadi, Mouna Ben Amor, Kinya Ishikawa, Ludivine Chamard-Witkowski

J Neurol Sci· January 2023

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Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Philippe Pierre Robichaud, Eric P Allain, Sarah Belbraouet, Claude Bhérer, Jean Mamelona, Mouna Ben Amor

BMC Med Genomics· April 2022

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Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
Samuel LeBlanc, Eric P Allain, Gabriel Girouard, Marcel Mallet, Mouna Ben Amor

Am J Med Genet A· March 2022

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Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.
Liane Bourcier, Nicolas Crapoulet, Rodney J Ouellette, Mathieu Mallet, Mouna Ben Amor

Am J Med Genet A· April 2021

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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.
Kristiina Avela, Heljä Hirvinen, Mouna Ben Amor, Frank Rauch

Eur J Med Genet· July 2015

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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.
I Mouna Ben Amor, Peter Roughley, Francis H Glorieux, Frank Rauch

J Bone Miner Res· September 2013

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Osteogenesis imperfecta.
Mouna Ben Amor, Frank Rauch, Elena Monti, Franco Antoniazzi

Pediatr Endocrinol Rev· June 2013

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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, Paul Roschger, Klaus Klaushofer

Am J Hum Genet· February 2013

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Abnormalities in muscle density and muscle function in hypophosphatemic rickets.
Louis-Nicolas Veilleux, Moira Cheung, Mouna Ben Amor, Frank Rauch

J Clin Endocrinol Metab· August 2012

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Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
I Mouna Ben Amor, Thomas Edouard, Francis H Glorieux, Gilles Chabot, Marc Tischkowitz

J Bone Miner Res· March 2012

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Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
I Mouna Ben Amor, Francis H Glorieux, Frank Rauch

J Osteoporos· November 2011

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Complementation of an Escherichia coli DnaK defect by Hsc70-DnaK chimeric proteins.
Jean-Philippe Suppini, Mouna Amor, Jean-Hervé Alix, Moncef M Ladjimi

J Bacteriol· September 2004

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