21 Result(s)

Article

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

As part of its efforts to identify genes affecting the risk of type I diabetes (T1D), the Type I Diabetes Genetics Consortium commissioned an extensive survey of variants associated with genes reported earlier...

G Morahan, E McKinnon, J Berry, B Browning, C Julier, F Pociot, I James in Genes & Immunity (2009)

Article

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

The Type I Diabetes Genetics Consortium (T1DGC) is an international collaboration whose primary goal is to identify genes whose variants modify an individual's risk of type I diabetes (T1D). An integral part o...

S S Rich, B Akolkar, P Concannon, H Erlich, J E Hilner, C Julier… in Genes & Immunity (2009)

Article

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

Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is the third major locus affecting risk of type I diabetes (T1D), after HLA-DR/DQ and INS. The most associated single-nucleotide polymorphism (SNP), rs24...

A K Steck, E E Baschal, J M Jasinski, B O Boehm, N Bottini, P Concannon… in Genes & Immunity (2009)

Article

Overview of the Type I Diabetes Genetics Consortium

The Type I Diabetes Genetics Consortium (T1DGC) is an international, multicenter research program with two primary goals. The first goal is to identify genomic regions and candidate genes whose variants modify...

S S Rich, B Akolkar, P Concannon, H Erlich, J E Hilner, C Julier… in Genes & Immunity (2009)

Article

Evidence for association of the TCF7 locus with type I diabetes

The Type I Diabetes Genetics Consortium (T1DGC) has collected thousands of multiplex and simplex families with type I diabetes (T1D) with the goal of identifying genes involved in T1D susceptibility. These fam...

H A Erlich, A M Valdes, C Julier, D Mirel, J A Noble in Genes & Immunity (2009)

Article

Association analysis of SNPs in the IL4R locus with type I diabetes

The Type I Diabetes Genetics Consortium (T1DGC) has collected thousands of multiplex and simplex families with type I diabetes (T1D) with the goal of identifying genes involved in T1D susceptibility. These fam...

H A Erlich, K Lohman, S J Mack, A M Valdes, C Julier, D Mirel… in Genes & Immunity (2009)

Article

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

Candidate gene studies have long been the principal method for identification of susceptibility genes for type I diabetes (T1D), resulting in the discovery of HLA, INS, PTPN22, CTLA4, and IL2RA. However, many of ...

C Julier, B Akolkar, P Concannon, G Morahan, C Nierras, A Pugliese in Genes & Immunity (2009)

Article

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

Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnose...

M. C. Y. de Wit, I. F. M. de Coo, C. Julier, M. Delépine, M. H. Lequin… in Neurogenetics (2006)

Article

Screening for the GRA mutation in Jamaica

CA McKenzie, B Keavney, T Forrester, C Julier… in Journal of Human Hypertension (2000)

Article

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

Non–insulin–dependent diabetes mellitus (NIDDM) affects about 5% of the world population. The disease presents a polygenic mode of inheritance, but mechanisms and genes involved in late–onset NIDDM are largely...

J. Hager, L. Hansen, C. Vaisse, N. Vionnet, A. Philippi, W. Poller… in Nature Genetics (1995)

Article

Genetic map** of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome llq

LOCI in the major histocompatibility complex (MHC) on chromo-some 6 and the insulin (INS) region on chromosome 11 have been implicated in susceptibility to insulin-dependent diabetes mellitus (IDDM) through candi...

L. Hashimoto, C. Habita, J. P. Beressi, M. Delepine, C. Basse, A. Cambon-Thomsen… in Nature (1994)

Chapter and Conference Paper

Precise Localization of a Gene Responsible for Ataxia-Telangiectasia on Chromosome 11q

Ataxia-telangiectasia (A-T) is a recessive disorder of childhood characterized by progressive cerebellar ataxia, occulocutaneous telangiectasias, and a high incidence of cancer and infection. Other distinctive...

F. Cornélis, M. James, D. Cherif, T. Tokino, J. Davies, D. Girault… in Ataxia-Telangiectasia (1993)

Article

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

Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer...

Y. Ziv, M. Frydman, E. Lange, N. Zelnik, G. Rotman, C. Julier… in Human Genetics (1992)

Article

Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility

A CLASS of alleles at the VNTR (variable number of tandem repeat) locus in the 5' region of the insulin gene (INS) on chromosome 11p is associated with increased risk of insulin-dependent diabetes mellitus (IDDM)

C. Julier, R. N. Hyer, J. Davies, F. Merlin, P. Soularue, L. Briant… in Nature (1991)

Article

Chromosomal map** of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats

The spontaneously hypertensive rat and the stroke-prone spontaneously hypertensive rat are useful models for human hypertension. In these strains hypertension is a polygenic trait, in which both autosomal and ...

P. Hilbert, K. Lindpaintner, J. S. Beckmann, T. Serikawa, F. Soubrier, C. Dubay… in Nature (1991)

Article

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

Linkage data for familial incontinentia pigmenti (IP2) and nine X chromosomal markers are reported. Previously found linkage between IP2 and the DXS52 locus is confirmed with the maximum lod score of 6.19 at a...

A. Sefiani, R. M'rad, L. Simard, A. Vincent, C. Julier… in Human Genetics (1991)

Chapter

Human Variable Number of Tandem Repeat Probes As a Source of Polymorphic Markers in Experimental Animals

Human VNTR (Variable Number of Tandem Repeat) markers are examined as a source of polymorphism for linkage studies in inbred strains of mice and rats. High frequencies of cross-hybridization are found under fi...

B. de Gouyon, C. Julier, P. Avner… in DNA Fingerprinting: Approaches and Applica… (1991)

Article

Linkage studies in X-linked Alport's syndrome

Four kindreds segregating for Alport's syndrome (ASLN) compatible with a X-linked inheritance were studied for linkage with polymorphic markers of the human X chromosome. No recombinant was observed between th...

S. Szpiro-Tapia, G. Bobrie, M. Guilloud-Bataille, S. Heuertz, C. Julier… in Human Genetics (1988)

Chapter and Conference Paper

Der Sonographiebefund nach Orchidoepididymitis in Korrelation zu Hormonstatus und Spermiogramm

In der Diagnostik des Skrotalinhaltes hat sich die hochauflösende Real-time-So-nographie als nichtinvasive und einfach durchführbare Methode zur wichtigsten Zusatzuntersuchung nach Inspektion und Palpation ent...

A. Eggerath, C. Julier, R. Friedrichs in Ultraschalldiagnostik ’86 (1987)