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Genes of alpha-dystroglycanopathies in 2016

M.S. Médecine sciences, 2016-11, Vol.32 Hors série n°2, p.40

2016

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The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

Biochimica et biophysica acta, 2009-09, Vol.1792 (9), p.841-843

2009

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Field observations, magnetic fabrics and microstructures evidences of syn-kinematic emplacement of the Numba granitic pluton (western Cameroon domain)

Journal of African earth sciences (1994), 2020-12, Vol.172, p.104009, Article 104009

2020

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Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2012-09, Vol.19 (9), p.959-969

2012

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Reemergence of Recombinant Vaccine-Derived Poliovirus Outbreak in Madagascar

The Journal of infectious diseases, 2008-05, Vol.197 (10), p.1427-1435

2008

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A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.84-84, Article 84

2016

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Pesticide exposure of non-occupationally exposed subjects compared to some occupational exposure: A French pilot study

The Science of the total environment, 2006-07, Vol.366 (1), p.74-91

2006

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Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Neuromuscular disorders : NMD, 2019-07, Vol.29 (7), p.497-502

2019

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Anomalies congénitales de glycosylation

Archives de pédiatrie (Paris), 2008-06, Vol.15 (5), p.602-605

2008

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Congenital Disorders of Glycosylation (CDG)

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2008-06, Vol.15 (5), p.602-605

2008

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Mature enough to reproduce? How efficient are cryopreserved MI oocytes in creating live birth

Fertility and sterility, 2015-09, Vol.104 (3), p.e300-e300

2015

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Nasal inflammation and personal exposure to fine particles PM2.5 in asthmatic children

Journal of allergy and clinical immunology, 2006-06, Vol.117 (6), p.1382-1388

2006

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Airway epithelium co-cultured with immune cells for a better assessment of the low dose effects of environmental pollutants on the inflammatory response

Toxicology letters, 2015-10, Vol.238 (2), p.S132-S132

2015

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Ice ice babies: pushing the ART limit through the combined technologies of oocyte cryopreservation (OC), trophectoderm biopsy (TEBX) and preimplantation genetic screening (PGS)

Fertility and sterility, 2015-09, Vol.104 (3), p.e273-e273

2015

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What does it take? The number of mature (MII) oocytes needed to “bank” on success

Fertility and sterility, 2015-09, Vol.104 (3), p.e88-e89

2015

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AB0468 The Unique Subset of Monocytes Expressing CD14bright and CD16 is Increased with Disease Activity and Changed with Treatment Response in Patients with Rheumatoid Arthritis

Annals of the rheumatic diseases, 2014-06, Vol.73 (Suppl 2), p.962-963

2014

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Assessment and predictor determination of indoor aldehyde levels in Paris newborn babies' homes

Indoor air, 2009-08, Vol.19 (4), p.314-323

2009

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Too slow? We don’t think so. Outcomes relative to embryo development in a busy oocyte cryopreservation (OC) program

Fertility and sterility, 2015-09, Vol.104 (3), p.e307-e308

2015

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Circulating anti-double-stranded DNA antibody-secreting cells in patients with systemic lupus erythematosus: a novel biomarker for disease activity

Lupus, 2012-10, Vol.21 (12), p.1284-1293

2012

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A single nucleotide polymorphism of TRAF1 predicts the clinical response to anti-TNF treatment in Japanese patients with rheumatoid arthritis

Clinical and experimental rheumatology, 2014-03, Vol.32 (2), p.211

2014

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AB0431 Clinical Evaluation of Treat-to-Target Strategy-Based Management Using Shortening Interval Methods for Infliximab in Patients with Rheumatoid Arthritis

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.1038-1039

2015

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AB0544 Efficacy and safety of tocilizumab in patients with rheumatoid arthritis in the presence or absence of previous treatment with biologics and concomitant treatment with methotrexate

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.669-669

2013

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AB0319 Treatment with tocilizumab improved rheumatoid arthritis patients clinically and structurally regardless of the prior use of anti-tnf biologics in daily clinical practice

Annals of the rheumatic diseases, 2013-06, Vol.72 (Suppl 3), p.A884-A885

2013

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Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Journal of medical genetics, 2010-11, Vol.47 (11), p.729-735

2010

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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

Neurology, 2007-09, Vol.69 (12), p.1254-1260

2007

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Genes of alpha-dystroglycanopathies in 2016

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

Field observations, magnetic fabrics and microstructures evidences of syn-kinematic emplacement of the Numba granitic pluton (western Cameroon domain)

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

Reemergence of Recombinant Vaccine-Derived Poliovirus Outbreak in Madagascar

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Pesticide exposure of non-occupationally exposed subjects compared to some occupational exposure: A French pilot study

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Anomalies congénitales de glycosylation

Congenital Disorders of Glycosylation (CDG)

Mature enough to reproduce? How efficient are cryopreserved MI oocytes in creating live birth

Nasal inflammation and personal exposure to fine particles PM2.5 in asthmatic children

Airway epithelium co-cultured with immune cells for a better assessment of the low dose effects of environmental pollutants on the inflammatory response

Ice ice babies: pushing the ART limit through the combined technologies of oocyte cryopreservation (OC), trophectoderm biopsy (TEBX) and preimplantation genetic screening (PGS)

What does it take? The number of mature (MII) oocytes needed to “bank” on success

AB0468 The Unique Subset of Monocytes Expressing CD14bright and CD16 is Increased with Disease Activity and Changed with Treatment Response in Patients with Rheumatoid Arthritis

Assessment and predictor determination of indoor aldehyde levels in Paris newborn babies' homes

Too slow? We don’t think so. Outcomes relative to embryo development in a busy oocyte cryopreservation (OC) program

Circulating anti-double-stranded DNA antibody-secreting cells in patients with systemic lupus erythematosus: a novel biomarker for disease activity

A single nucleotide polymorphism of TRAF1 predicts the clinical response to anti-TNF treatment in Japanese patients with rheumatoid arthritis

AB0431 Clinical Evaluation of Treat-to-Target Strategy-Based Management Using Shortening Interval Methods for Infliximab in Patients with Rheumatoid Arthritis

AB0544 Efficacy and safety of tocilizumab in patients with rheumatoid arthritis in the presence or absence of previous treatment with biologics and concomitant treatment with methotrexate

AB0319 Treatment with tocilizumab improved rheumatoid arthritis patients clinically and structurally regardless of the prior use of anti-tnf biologics in daily clinical practice

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

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