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List of works by Florence Demenais

17q21 variants modify the association between early respiratory infections and asthma

scientific article published on 23 December 2009

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity

scientific article published on 20 February 2014

A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults

scientific article published on April 2015

A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants

scientific article published on 27 June 2016

A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

scientific article published on August 1982

A general transmission probability model for pedigree data.

scientific article published on January 1981

A large-scale, consortium-based genomewide association study of asthma

scientific article

A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both

scientific article

A linkage study of HLA and maturity onset type diabetes of the young (MODY)

scientific article published on 01 May 1983

A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes

scientific article

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus

scientific article published on February 1998

A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions

scientific article published on 16 September 2017

A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene

article

A two-step multiple-marker strategy for genome-wide association studies

scientific article

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

Adult onset asthma and interaction between genes and active tobacco smoking: The GABRIEL consortium

scientific article

Affected sib-pair tests for linkage: Type I errors with dependent sib-pairs

scientific article published on 01 January 1997

An epidemiological and genetic study of facial clefting in France. II Segregation analysis

scientific article

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies ⬇️

scholarly article by Anne E. Cust published in June 2018

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 2020

Association between germ cell tumours, large numbers of naevi, atypical naevi and melanoma

scientific article published on 01 April 2001

Association of Forced Vital Capacity with the Developmental Gene NCOR2.

scientific article

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

scientific article

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

scientific article published on 26 July 2013

Associations between Nitric Oxide Synthase Genes and Exhaled NO-Related Phenotypes according to Asthma Status ⬇️

scientific article (publication date: 2012)

BRAF as a melanoma susceptibility candidate gene?

scientific article published in June 2003

CD14and Toll-like Receptor Gene Polymorphisms, Country Living, and Asthma in Adults

article

Candidate gene approach of familial morbid obesity: linkage analysis of the glucocorticoid receptor gene

article

Characteristics of the coexistence of melanoma and renal cell carcinoma

scientific article published in December 2010

Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families

scientific article published on 27 October 2004

CoPE: a collaborative pedigree drawing environment

scientific article

Common sequence variants on 20q11.22 confer melanoma susceptibility

scientific article published on 18 May 2008

Comparative Power of Family-Based Association Strategies to Detect Disease-Causing Variants Under Two-Locus Models

scientific article published on 09 August 2012

Complex segregation analysis of familial diseases with variable age of onset: comparison of different methods by a simulation study.

scientific article published on January 1995

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

scientific article published on 03 June 2005

Congenital glaucoma: genetic models

scientific article published on February 1979

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis

scientific article published on 30 March 2016

Descriptive analysis of breast cancer in African-American women at Howard University Hospital, 1960-1987.

scientific article

Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.

scientific article published in February 1994

Detection of a recessive major gene for high IgE levels acting independently of specific response to allergens

article

Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade island.

scientific article

Detection of parent-of-origin effects for atopy by model-free and model-based linkage analyses.

scientific article published on January 2001

Detection of putative functional angiotensinogen (AGT) gene variants controlling plasma AGT levels by combined segregation-linkage analysis

article

Detection of quantitative trait loci associated with alcohol-dependence: Use of model-free sib-pair method and combined segregation-linkage analysis based on regressive models

scientific article published on 01 January 1999

Different genes interact with particulate matter and tobacco smoke exposure in affecting lung function decline in the general population

scientific article (publication date: 2012)

Diseases Having Two Classes of Severity: Estimation of the Proportions of Each Manifestation by Maximum Likelihood

scientific article published on 01 September 1980

Effect of 17q21 variants and smoking exposure in early-onset asthma

scientific article

Empirical affected-sib-pair statistics: two simulation strategies

scientific article published on 01 January 1997

Epidemiologic study of the genetics and environment of asthma, bronchial hyperresponsiveness, and atopy.

scientific article published in March 2002

Epidemiological Study of the Genetics and Environment of Asthma, Bronchial Hyperresponsiveness, and Atopy ⬇️

scientific article published on October 1, 1997

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article published in Nature

Evidence for a Locus in 1p31 Region Specifically Linked to the Co-Morbidity of Asthma and Allergic Rhinitis in the EGEA Study

article

Evidence for a pleiotropic QTL on chromosome 5q13 influencing both time to asthma onset and asthma score in French EGEA families

article

Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families

article

Evidence for linkage of a new region (11p14) to eczema and allergic diseases ⬇️

scientific article published on 18 October 2007

Evidence for the segregation of a major gene in human susceptibility/resistance to infection by Schistosoma mansoni.

scientific article

Exclusion of a tight linkage between familial polyposis coli and HLA

scientific article published on 01 November 1983

Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands

scientific article published in November 2004

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family

scientific article published on 26 July 2012

Familial susceptibility to breast cancer: A complex inheritance

scientific article published on 01 September 1989

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

scientific article published on 11 August 2006

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

scientific article

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

scientific article published on 10 March 2017

Further analysis of familial transmission of congenital glaucoma.

scientific article

GA2LEN (Global Allergy and Asthma European Network).

scientific article published on June 2009

Gain of power of the general regression model compared to Cochran-Armitage Trend tests: simulation study and application to bipolar disorder

scientific article

Gene-environment interactions in asthma and allergic diseases: challenges and perspectives

scientific article

Genes Interacting with Occupational Exposures to Low Molecular Weight Agents and Irritants on Adult-Onset Asthma in Three European Studies

scientific article published on 09 August 2016

Genes Involved in Interleukin-1 Receptor Type II Activities Are Associated With Asthmatic Phenotypes.

scientific article published on September 2016

Genetic analyses of glucose transporter genes in French non-insulin-dependent diabetic families

article

Genetic analysis of human breast cancer: Implications for family study designs

article

Genetic analysis workshop II: Study of problem 2 linkage relationships by different methods

Genetic and environmental factors in cutaneous malignant melanoma

scientific article

Genetic and environmental factors of asthma and allergy: Results of the EGEA study

scientific article

Genetic and epidemiological risk factors for a malignant melanoma-predisposing phenotype: The great number of nevi

scientific article published on 01 January 1996

Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs

scientific article published on 28 May 2011

Genetic control of blood infection levels in human malaria: evidence for a complex genetic model ⬇️

scientific article published on April 1, 1998

Genetic epidemiology of host predisposition microfilaraemia in human loiasis

scientific article published on August 1999

Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin

scientific article published on 01 July 1997

Genetic heterogeneity of asthma phenotypes identified by a clustering approach

scientific article published on 5 December 2013

Genetic studies of the renin-angiotensin system in arterial hypertension associated with non-insulin-dependent diabetes mellitus

scientific article published on 01 June 1997

Genital and anorectal mucosal melanoma is associated with cutaneous melanoma in patients and in families

scientific article published in September 2013

Genome Screen for Asthma and Related Phenotypes in the French EGEA Study

article

Genome screen in the French EGEA study: detection of linked regions shared or not shared by allergic rhinitis and asthma

article

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. ⬇️

scientific article

Genome-wide association study of body mass index in 23 000 individuals with and without asthma

scientific article published on April 2013

Genome-wide association study of lung function decline in adults with and without asthma

scientific article published on 16 March 2012

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Geographical variation in the penetrance of CDKN2A mutations for melanoma

scientific article

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

scientific article

HLA and leprosy

scientific article published in June 1986

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

How can maximum likelihood methods reveal candidate gene effects on a quantitative trait?

article

Human leukocyte antigen class II variants and adult-onset asthma: does occupational allergen exposure play a role?

scientific article published on 17 July 2014

Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia

scientific article published on 11 August 2011

Identification of a new locus at 16q12 associated with time to asthma onset

scientific article

Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus

article

Indication of linkage and genetic heterogeneity for asthma and atopy on chromosomes 8p and 12q in 107 French EGEA families.

scientific article published in August 2003

Indication of linkage and genetic heterogeneity of asthma according to age at onset on chromosome 7q in 107 French EGEA families.

scientific article published in November 2001

Indication of linkage of serum IgE levels to the interleukin-4 gene and exclusion of the contribution of the (-590 C to T) interleukin-4 promoter polymorphism to IgE variation

scientific article published in 1999

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

article

Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk

scientific article

Integration of the human exposome with the human genome to advance medicine

article published in 2018

Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness

scientific article published on 21 January 2016

Interactions between genetic and reproductive factors in breast cancer risk in a French family sample.

scientific article

Interactions between genetic and reproductive factors in breast cancer risk in a population-based sample of African-American families

article

Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria

scientific article published on April 1990

KITand melanoma predisposition in pigs: sequence variants and association analysis

Linkage Analyses of the MODY3 Locus on Chromosome 12q With Late-Onset NIDDM

article

Linkage Analysis and Molecular Scanning of Glucokinase Gene in NIDDM Families

article

MC1R variant alleles and malignant melanoma risk in Israel.

scientific article

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

scientific article published on 12 March 2019

Mapping NIDDM Susceptibility Loci in French Families: Studies With Markers in the Region of NIDDM1 on Chromosome 2q

article

Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma

scientific article published on 01 June 2020

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees

scientific article published in October 2005

Melanoma Expression Genes Identified through Genome-Wide Association Study of Breslow Tumor Thickness

scientific article published on 6 August 2016

Meta-analysis identifies seven susceptibility loci involved in the atopic march

scientific article

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

scientific article

Mold allergen sensitization in adult asthma according to integrin β3 polymorphisms and Toll-like receptor 2/+596 genotype

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma

scientific article

Neural tube defects in france: Segregation analysis

article

New susceptibility loci for cutaneous melanoma risk and progression revealed using a porcine model.

scientific article published on 12 June 2018

Novel childhood asthma genes interact with in utero and early-life tobacco smoke exposure

scientific article published on 6 December 2013

Numerical comparisons of two formulations of the logistic regressive models with the mixed model in segregation analysis of discrete traits

scientific article published on January 1, 1992

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Power of the sib-pair and lod-score methods for linkage analysis of quantitative traits

article

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]

article

Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes

scientific article

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

scientific article

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

scientific article published on 28 July 2016

Regressive logistic models for familial diseases: a formulation assuming an underlying liability model.

scientific article published on October 1991

Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome ⬇️

scientific article published on January 1, 1992

Regressive threshold model for familial analysis of complex diseases with variable age of onset

article

Replication of association between ADAM33 polymorphisms and psoriasis

scientific article

Scores of asthma and asthma severity reveal new regions of linkage in EGEA study families

scientific article published on 25 April 2007

Segregation Analysis of Prostate Cancer in France: Evidence for Autosomal Dominant Inheritance and Residual Brother-brother Dependence

article

Segregation analysis of IgE levels in 335 French families (EGEA) using different strategies to correct for the ascertainment through a correlated trait (asthma)

scientific article published on 01 February 2000

Segregation analysis of congenital glaucoma: approach by two differential models.

scientific article

Segregation analysis of the Jacobsen data

article

Segregation analysis of the specific response to allergens: a recessive major gene controls the specific IgE response to Timothy grass pollen

scientific article published on 01 January 1999

Selection of genes for gene-environment interaction studies: a candidate pathway-based strategy using asthma as an example

scientific article published on 3 July 2013

Sex-specific effect of IL9 polymorphisms on lung function and polysensitization

scientific article published on 18 June 2009

Sib-pair linkage analysis of alcohol dependence taking into account covariates and age-of-onset variability: Evaluation of the residual approach

scientific article published on 01 January 1999

SigMod: an exact and efficient method to identify a strongly interconnected disease-associated module in a gene network

scientific article published on 9 January 2017

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

Susceptibility to human cutaneous leishmaniasis and HLA, Gm, Km markers.

scientific article

The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma

article

The COL5A3 and MMP9 genes interact in eczema susceptibility.

scientific article published on 23 November 2017

The Relationship of Body Mass Index to Reproductive Factors in Pre- and Postmenopausal African-American Women With and Without Breast Cancer

scientific article published on 01 September 1996

The effect on melanoma risk of genes previously associated with telomere length

scientific article

The nuclear factor I/A (NFIA) gene is associated with the asthma plus rhinitis phenotype

article

Transient receptor potential genes, smoking, occupational exposures and cough in adults

scientific article published on 23 March 2012

Unsupervised text mining for assessing and augmenting GWAS results

scientific article

Use of the regressive models in linkage analysis of quantitative traits

article

Using an age-at-onset phenotype with interval censoring to compare methods of segregation and linkage analysis in a candidate region for elevated systolic blood pressure

scientific article

Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.

scientific article published on 31 May 2013

Vitamin D levels and susceptibility to asthma, elevated immunoglobulin E levels, and atopic dermatitis: A Mendelian randomization study.

scientific article

[Epidemiologic and genetic studies of spina bifida (author's transl)]

article

[Epidemiological study on the Genetics and Environment of Asthma, bronchial hyperresponsiveness and atopy (EGEA) - First results of a multi-disciplinary study]

scientific article published on 01 February 2002

[Genetics of asthma and atopy: how many genes?]

article

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

scientific article

[The PROGENE study, the French project of genetic analysis of familial prostatic cancer: recruitment and analysis]

scientific article published on 01 April 1996

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