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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Journal of medical genetics, 2015-07, Vol.52 (7), p.446-453

2015

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Nature genetics, 2005-09, Vol.37 (9), p.1003-1007

2005

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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3148-3154

2007

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Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Human mutation, 2011-02, Vol.32 (2), p.249-258

2011

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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Human molecular genetics, 2009-12, Vol.18 (24), p.4724-4733

2009

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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Human molecular genetics, 2014-11, Vol.23 (21), p.5763-5773

2014

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Normal Growth despite Combined Pituitary Hormone Deficiency

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.133-142

2020

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Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Human mutation, 2014-10, Vol.35 (10), p.1211-1220

2014

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Normal Growth despite Combined Pituitary Hormone Deficiency

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.133-142

2020

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Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Journal of medical genetics, 2015-01, Vol.52 (1), p.53-60

2015

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Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary

Human mutation, 2005-05, Vol.25 (5), p.503-503

2005

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Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary: MUTATIONS IN BRIEF

Human mutation, 2005-05, Vol.25 (5), p.503-503

2005

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Alu-element insertion in the homeodomain ofHESX1and aplasia of the anterior pituitary

Human mutation, 2005-04, Vol.25, p.503-503

2005

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Normal Growth despite Combined Pituitary Hormone Deficiency

Hormone research in paediatrics, 2019, Vol.92 (2), p.133-142

2019

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Evidences of early senescence in multiple myeloma bone marrow mesenchymal stromal cells

PloS one, 2013-03, Vol.8 (3), p.e59756-e59756

2013

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Update of French society for rheumatology recommendations for managing rheumatoid arthritis

Joint, bone, spine : revue du rhumatisme, 2019-03, Vol.86 (2), p.135-150

2019

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Live single-cell transcriptional dynamics via RNA labelling during the phosphate response in plants

Nature plants, 2021-08, Vol.7 (8), p.1050

2021

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The CFHT large area U-band deep survey (CLAUDS)

Monthly notices of the Royal Astronomical Society, 2019-11, Vol.489 (4), p.5202-5217

2019

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CPK13, a Noncanonical Ca²⁺-Dependent Protein Kinase, Specifically Inhibits KAT2 and KAT1 Shaker K⁺ Channels and Reduces Stomatal Opening

Plant physiology (Bethesda), 2014-09, Vol.166 (1), p.314-326

2014

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Mechanics of human vocal folds layers during finite strains in tension, compression and shear

Journal of biomechanics, 2020-09, Vol.110, p.109956-109956, Article 109956

2020

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The Phosphate Fast-Responsive Genes PECP1 and PPsPase1 Affect Phosphocholine and Phosphoethanolamine Content

Plant physiology (Bethesda), 2018-04, Vol.176 (4), p.2943-2962

2018

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Production and migration of patulin in Penicillium expansum molded apples during cold and ambient storage

International journal of food microbiology, 2020-01, Vol.313, p.108377-108377, Article 108377

2020

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Plant adaptation to fluctuating environment and biomass production are strongly dependent on guard cell potassium channels

Proceedings of the National Academy of Sciences - PNAS, 2008-04, Vol.105 (13), p.5271-5276

2008

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A micro-mechanical model for the fibrous tissues of vocal folds

Journal of the mechanical behavior of biomedical materials, 2022-04, Vol.128 (April), p.105118-105118, Article 105118

2022

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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Increasing knowledge in IGF1R defects: lessons from 35 new patients

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Normal Growth despite Combined Pituitary Hormone Deficiency

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Normal Growth despite Combined Pituitary Hormone Deficiency

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary: MUTATIONS IN BRIEF

Alu-element insertion in the homeodomain ofHESX1and aplasia of the anterior pituitary

Normal Growth despite Combined Pituitary Hormone Deficiency

Evidences of early senescence in multiple myeloma bone marrow mesenchymal stromal cells

Update of French society for rheumatology recommendations for managing rheumatoid arthritis

Live single-cell transcriptional dynamics via RNA labelling during the phosphate response in plants

The CFHT large area U-band deep survey (CLAUDS)

CPK13, a Noncanonical Ca²⁺-Dependent Protein Kinase, Specifically Inhibits KAT2 and KAT1 Shaker K⁺ Channels and Reduces Stomatal Opening

Mechanics of human vocal folds layers during finite strains in tension, compression and shear

The Phosphate Fast-Responsive Genes PECP1 and PPsPase1 Affect Phosphocholine and Phosphoethanolamine Content

Production and migration of patulin in Penicillium expansum molded apples during cold and ambient storage

Plant adaptation to fluctuating environment and biomass production are strongly dependent on guard cell potassium channels

A micro-mechanical model for the fibrous tissues of vocal folds

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