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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

European journal of neurology, 2018-05, Vol.25 (5), p.790-794

2018

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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Molecular psychiatry, 2015-09, Vol.20 (9), p.1046-1056

2015

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Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells

Neurobiology of disease, 2022-06, Vol.168, p.105702-105702, Article 105702

2022

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Nature genetics, 1999-08, Vol.22 (4), p.352-355

1999

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Evaluation of a PCR Test for Detection of Treponema pallidum in Swabs and Blood

Journal of Clinical Microbiology, 2012-03, Vol.50 (3), p.546-552

2012

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Highly efficient and sensitive membrane-based concentration process allows quantification, surveillance, and sequencing of viruses in large volumes of wastewater

Water research (Oxford), 2024-02, Vol.249, p.120959-120959, Article 120959

2024

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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Clinical genetics, 2017-02, Vol.91 (2), p.333-338

2017

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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Clinica chimica acta, 2018-10, Vol.485, p.218-223

2018

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Mutations in the MDR3 Gene Cause Progressive Familial Intrahepatic Cholestasis

Proceedings of the National Academy of Sciences - PNAS, 1998-01, Vol.95 (1), p.282-287

1998

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Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design

BMC medical research methodology, 2023-04, Vol.23 (1), p.99-99, Article 99

2023

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A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process

Journal of thrombosis and haemostasis, 2019-11, Vol.17 (11), p.1808-1814

2019

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Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

Scientific reports, 2017-04, Vol.7 (1), p.45507-45507, Article 45507

2017

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Variations in the APP gene promoter region and risk of Alzheimer disease

Neurology, 2007-02, Vol.68 (9), p.684-687

2007

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Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation

Scientific reports, 2019-03, Vol.9 (1), p.3750-3750, Article 3750

2019

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Society, law, morality and bioethics: A systemic point of view

Ethics, Medicine and Public Health, 2019-07, Vol.10, p.22-26

2019

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Erratum to “Society, law, morality and bioethics: A systemic point of view” [Ethics, Medicine and Public Health (2019) 22–26]

Ethics, Medicine and Public Health, 2020-04, Vol.13, p.100461, Article 100461

2020

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FRI0165 Micrornas dysregulation in monocytes and t cd4 lymphocytes from patients with axial spondyloarthritis

Annals of the rheumatic diseases, 2018-06, Vol.77 (Suppl 2), p.625

2018

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Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder

Molecular psychiatry, 2004-06, Vol.9 (6), p.621-629

2004

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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Molecular psychiatry, 2017-08, Vol.22 (8), p.1119-1125

2017

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Defect of multidrug‐resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis

Hepatology (Baltimore, Md.), 1996-04, Vol.23 (4), p.904-908

1996

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Parkin mutations are frequent in patients with isolated early‐onset parkinsonism

Brain (London, England : 1878), 2003-06, Vol.126 (6), p.1271-1278

2003

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Analyse transcriptomique des fibroblastes dermiques associés aux lymphomes T cutanés : démonstration de leur rôle support

Annales de dermatologie et de vénéréologie, 2020-12, Vol.147 (12), p.A151-A151

2020

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Effects of HER2 immuno-histochemistry expression levels on survival in patients treated by trastuzumab at the adjuvant setting in the SIGNAL/PHARE prospective cohort

Annals of oncology, 2016-10, Vol.27, p.vi55-vi55

2016

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Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Annals of oncology, 2016-10, Vol.27, p.vi53-vi53

2016

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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Evaluation of a PCR Test for Detection of Treponema pallidum in Swabs and Blood

Highly efficient and sensitive membrane-based concentration process allows quantification, surveillance, and sequencing of viruses in large volumes of wastewater

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Mutations in the MDR3 Gene Cause Progressive Familial Intrahepatic Cholestasis

Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design

A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process

Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

Variations in the APP gene promoter region and risk of Alzheimer disease

Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation

Society, law, morality and bioethics: A systemic point of view

Erratum to “Society, law, morality and bioethics: A systemic point of view” [Ethics, Medicine and Public Health (2019) 22–26]

FRI0165 Micrornas dysregulation in monocytes and t cd4 lymphocytes from patients with axial spondyloarthritis

Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Defect of multidrug‐resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis

Parkin mutations are frequent in patients with isolated early‐onset parkinsonism

Analyse transcriptomique des fibroblastes dermiques associés aux lymphomes T cutanés : démonstration de leur rôle support

Polygenic risk of major depressive disorder as a risk factor for venous thromboembolism

Effects of HER2 immuno-histochemistry expression levels on survival in patients treated by trastuzumab at the adjuvant setting in the SIGNAL/PHARE prospective cohort

Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

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