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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

American journal of human genetics, 2014-01, Vol.94 (1), p.95-104

2014

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The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-09, Vol.181 (3), p.337-344

2019

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Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Journal of medical genetics, 2023-01, Vol.60 (1), p.13

2023

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Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

Science (American Association for the Advancement of Science), 2011-04, Vol.332 (6026), p.240-243

2011

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Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium

Journal of cardiovascular development and disease, 2024-01, Vol.11 (1), p.11

2024

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The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals

Journal of cardiovascular development and disease, 2021-12, Vol.8 (12), p.179

2021

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Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.650-654

2019

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

American journal of human genetics, 2011-03, Vol.88 (3), p.351-361

2011

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The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities

Journal of cardiovascular development and disease, 2022-10, Vol.9 (11), p.371

2022

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Study of myocardial cell inhomogeneity of the human heart: Simulation and validation using polarized light imaging

Medical physics (Lancaster), 2016-05, Vol.43 (5), p.2273-2282

2016

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Postnatal myocardium remodelling generates inhomogeneity in the architecture of the ventricular mass

Surgical and radiologic anatomy (English ed.), 2018-01, Vol.40 (1), p.75-83

2018

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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Nature genetics, 2007-05, Vol.39 (5), p.661-665

2007

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Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

Pigment cell and melanoma research, 2017-11, Vol.30 (6), p.563-570

2017

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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

PLoS genetics, 2013-03, Vol.9 (3), p.e1003363

2013

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Cerebral palsy and intrauterine growth in single births: European collaborative study

The Lancet (British edition), 2003-10, Vol.362 (9390), p.1106-1111

2003

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Molecular genetics & genomic medicine, 2019-04, Vol.7 (4), p.e00569-n/a

2019

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Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period

Frontiers in pediatrics, 2020-09, Vol.8, p.503054-503054

2020

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Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

Neurology, 2018-05, Vol.90 (18), p.e1596

2018

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Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1530-1536

2014

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17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2564-2570

2012

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7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.2133-2135

2014

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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

Prenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078

2010

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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium

The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities

Study of myocardial cell inhomogeneity of the human heart: Simulation and validation using polarized light imaging

Postnatal myocardium remodelling generates inhomogeneity in the architecture of the ventricular mass

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

Cerebral palsy and intrauterine growth in single births: European collaborative study

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

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