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Anne Lise Delezoide

Paris Diderot University
Necker-Enfants Malades Hospital

154

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CD117hi expression identifies a human fetal Hematopoietic Stem Cell population with high proliferation and self-renewal potential

2019 Haematologica
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Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

2018 Molecular Syndromology
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Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus

2016 Cerebral Cortex
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Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases†

2016 Prenatal Diagnosis
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

2016 Clinical Genetics
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Fetal phenotypes in otopalatodigital spectrum disorders

2016 Clinical Genetics
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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

2015 Annals of Neurology
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Correlation between low FAT1 expression and early affected muscle in FSHD

2015 Neuromuscular Disorders
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Fetal phenotype associated with the 22q11 deletion

2014 American Journal of Medical Genetics Part A
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Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

2014 American Journal of Medical Genetics Part A
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