Lista de obras - Cécile JULIER - Dominio Público Uruguay

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

artículo científico publicado en 2015

A detailed genetic map of the long arm of chromosome 11

artículo científico publicado en 1990

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

artículo científico publicado en 2008

A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus

artículo científico publicado en 1995

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

artículo científico publicado en 2013

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

artículo científico publicado en 2009

A variant in the CD209 promoter is associated with severity of dengue disease

artículo científico publicado en 2005

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

artículo científico publicado el 1 de marzo de 1992

Comparative mapping of novel simple sequence repeat markers in a hypertension-related region on rat chromosome 1

scientific article published on 01 March 1997

Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.

artículo científico publicado en 1987

Confirmation of novel type 1 diabetes risk loci in families

artículo científico publicado en 2012

Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease.

artículo científico publicado en 1996

Correction: Genetic Determination and Linkage Mapping of Plasmodium falciparum Malaria Related Traits in Senegal

artículo científico publicado en 2008

Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

Current status and the future for the genetics of type I diabetes.

artículo científico publicado en 2009

Dinucleotide repeat polymorphism at the PI locus

artículo científico publicado en 1993

Distribution of HLA-DQA1 and -DQB1 alleles and DQA1-DQB1 genotypes among Senegalese patients with insulin-dependent diabetes mellitus.

artículo científico publicado en 1996

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

artículo científico publicado en 2014

Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium.

artículo científico publicado en 2009

Evidence for association of the TCF7 locus with type I diabetes.

artículo científico publicado en 2009

Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.

artículo científico publicado en 1997

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

artículo científico publicado en 2012

FCRL3 −169CT functional polymorphism in type 1 diabetes and autoimmunity traits

artículo científico publicado en 2007

Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group

article

Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.

artículo científico publicado en 2004

Genetic determination and linkage mapping of Plasmodium falciparum malaria related traits in Senegal

artículo científico publicado en 2008

Genetic study of ICAM1 in clinical malaria in Senegal.

artículo científico publicado en 2005

Genetics of type 1 diabetes: what's next?

artículo científico publicado en 2010

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

artículo científico publicado en 2009

Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium

artículo científico publicado en 2009

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein

artículo científico publicado en 2002

Identification of a CA repeat at the TCRA locus using yeast artificial chromosomes: a general method for generating highly polymorphic markers at chosen loci

artículo científico publicado el 1 de julio de 1992

In situ hybridization ascertains the presence of a translocation t(6;11) in an acute monocytic leukemia

artículo científico publicado en 1990

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

artículo científico publicado en 2017

Linkage studies in X-linked Alport's syndrome

artículo científico publicado en 1988

Lost in translation

scientific article published on 01 December 2001

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

artículo científico publicado en 1990

Maternal inheritance of atopic IgE responsiveness on chromosome 11q.

artículo científico publicado en 1992

Measured Haplotype Analysis of the Angiotensin-I Converting Enzyme Gene

article

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

artículo científico publicado en 2006

Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons

artículo científico publicado en 2017

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

artículo científico publicado en 2006

Overview of the Type I Diabetes Genetics Consortium.

artículo científico publicado en 2009

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

artículo científico publicado en 2007

Results of the MHC fine mapping workshop.

artículo científico publicado en 2009

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

artículo científico publicado en 2005

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

artículo científico publicado en 2013

Screening for hereditary hemochromatosis

scientific article published on 01 May 2000

Screening for the GRA mutation in Jamaica

artículo científico publicado en 2000

Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.

artículo científico publicado en 2007

Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: application to regional mapping of human chromosome 11.

artículo científico publicado en 1990

Systematic study of human alpha beta T cell receptor V segments shows allelic variations resulting in a large number of distinct T cell receptor haplotypes.

artículo científico publicado en 1993

Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs

artículo científico publicado en 2011

The Type 1 Diabetes Genetics Consortium

artículo científico publicado en 2006

The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

artículo científico publicado en 2009

The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19

artículo científico publicado en 1984

Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families.

artículo científico publicado en 2005

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon

scientific article published on 20 September 2008

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

artículo científico publicado en 2004

Wolcott-Rallison syndrome

artículo científico publicado en 2010

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

scientific article published on 25 February 2010

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

artículo científico publicado en 2020

[A variant in the CD209 (DC-SIGN) promoter is associated with severity of dengue disease]

artículo científico publicado en 2005

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

artículo científico publicado en 2017

rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype

artículo científico publicado en 2009

Lista de obras de Cécile JULIER

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

A detailed genetic map of the long arm of chromosome 11

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

A variant in the CD209 promoter is associated with severity of dengue disease

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

Comparative mapping of novel simple sequence repeat markers in a hypertension-related region on rat chromosome 1

Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.

Confirmation of novel type 1 diabetes risk loci in families

Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease.

Correction: Genetic Determination and Linkage Mapping of Plasmodium falciparum Malaria Related Traits in Senegal

Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

Current status and the future for the genetics of type I diabetes.

Dinucleotide repeat polymorphism at the PI locus

Distribution of HLA-DQA1 and -DQB1 alleles and DQA1-DQB1 genotypes among Senegalese patients with insulin-dependent diabetes mellitus.

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium.

Evidence for association of the TCF7 locus with type I diabetes.

Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

FCRL3 −169CT functional polymorphism in type 1 diabetes and autoimmunity traits

Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group

Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.

Genetic determination and linkage mapping of Plasmodium falciparum malaria related traits in Senegal

Genetic study of ICAM1 in clinical malaria in Senegal.

Genetics of type 1 diabetes: what's next?

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein

Identification of a CA repeat at the TCRA locus using yeast artificial chromosomes: a general method for generating highly polymorphic markers at chosen loci

In situ hybridization ascertains the presence of a translocation t(6;11) in an acute monocytic leukemia

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Linkage studies in X-linked Alport's syndrome

Lost in translation

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

Maternal inheritance of atopic IgE responsiveness on chromosome 11q.

Measured Haplotype Analysis of the Angiotensin-I Converting Enzyme Gene

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

Overview of the Type I Diabetes Genetics Consortium.

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

Results of the MHC fine mapping workshop.

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

Screening for hereditary hemochromatosis

Screening for the GRA mutation in Jamaica

Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.

Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: application to regional mapping of human chromosome 11.

Systematic study of human alpha beta T cell receptor V segments shows allelic variations resulting in a large number of distinct T cell receptor haplotypes.

Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs

The Type 1 Diabetes Genetics Consortium

The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19

Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families.

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Wolcott-Rallison syndrome

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

[A variant in the CD209 (DC-SIGN) promoter is associated with severity of dengue disease]

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype