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List of works by Nathalie Lambert

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

scientific article published on 6 June 2017

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype

scientific article published on 03 December 2008

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

scientific article

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

scientific article published on 25 July 2015

Analyzing HLA-G polymorphisms in children from women with scleroderma.

scientific article

Anti-Ephrin Type-B Receptor 2 (EphB2) and Anti-Three Prime Histone mRNA EXonuclease 1 (THEX1) Autoantibodies in Scleroderma and Lupus

scientific article

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

scientific article published on July 2012

CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia

scientific article published on 10 May 2017

Cells from a vanished twin as a source of microchimerism 40 years later

scientific article

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

scientific article published on 15 June 2014

Chimerism in women with end stage renal diseases: Who's who?

scientific article

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

scientific article published on 07 November 2019

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

scientific article published on 30 November 2010

Comparing HLA shared epitopes in French Caucasian patients with scleroderma

scientific article

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

scientific article

Dynamic changes in fetal microchimerism in maternal peripheral blood mononuclear cells, CD4+ and CD8+ cells in normal pregnancy

scientific article

Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis

scientific article

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

scientific article

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

scientific article published on 19 June 2012

HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women

scientific article published on 30 November 2004

HLA-DRB1 genotypes and the risk of developing anti citrullinated protein antibody (ACPA) positive rheumatoid arthritis

scientific article

How microchimerism can impart HLA susceptibility in patients with rheumatoid arthritis

scientific article

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing

scientific article published on 09 June 2020

Male DNA in female donor apheresis and CD34-enriched products

scientific article

Male microchimerism and HLA compatibility in French women with sclerodema: a different profile in limited and diffuse subset

scientific article published on 10 February 2009

Male microchimerism in healthy women and women with scleroderma: cells or circulating DNA? A quantitative answer

scientific article

Male microchimerism in women with systemic sclerosis and healthy women who have never given birth to a son.

scientific article published on 18 November 2004

Male microchimerism in women without sons: quantitative assessment and correlation with pregnancy history

scientific article

Maternal HLA class II compatibility in men with systemic lupus erythematosus

scientific article published on 01 September 2005

Maternal and sibling microchimerism in twins and triplets discordant for neonatal lupus syndrome-congenital heart block.

scientific article

Maternal microchimerism in healthy adults in lymphocytes, monocyte/macrophages and NK cells

scientific article

Maternal microchimerism in peripheral blood in type 1 diabetes and pancreatic islet beta cell microchimerism.

scholarly article

Microchimeric cells: guardians or actors of immunity in scleroderma?

scientific article published on 23 November 2006

Microchimerism and rheumatic diseases

scientific article published on 07 November 2012

Microchimerism in autoimmune disease: more questions than answers?

scientific article

Microchimérisme dans la sclérodermie : dix ans après

scientific article published on 15 April 2010

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

scientific article published in November 2003

New autoantibodies in early rheumatoid arthritis

scientific article published on 25 July 2013

New autoantigens in rheumatoid arthritis (RA): screening 8268 protein arrays with sera from patients with RA.

scientific article published on 28 October 2008

Newly Identified BRAF Mutation in Rheumatoid Arthritis

scientific article published on 27 January 2016

Patients with ankylosing spondylitis have been breast fed less often than healthy controls: a case-control retrospective study

scientific article published on 12 October 2015

Pregnancy, microchimerism, and the maternal grandmother

scientific article

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

scientific article

Prospective study of fetal DNA in serum and disease activity during pregnancy in women with inflammatory arthritis.

scientific article

Quantification of maternal microchimerism by HLA-specific real-time polymerase chain reaction: studies of healthy women and women with scleroderma.

scientific article

Rheumatoid arthritis: Forward and reverse inheritance - the yin and the yang

scientific article published on 8 June 2017

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

scientific article published on 14 July 2015

T-cell receptor variable region of the beta-chain gene use in peripheral blood and multiple synovial membranes during rheumatoid arthritis

scientific article published in April 1995

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

scientific article

Transfer of the shared epitope through microchimerism in women with rheumatoid arthritis.

scientific article

Use of T-Cell Receptor V? Genes in Synovial Membrane in Rheumatoid Arthritis

article

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

scientific journal article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

scientific article

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