A. Carey

发表

Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease.

D. Jewell, W. Cookson, D. McGovern, 2005, Human molecular genetics.

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

S. Bhattacharya, E. Vithana, A. Moore, 2001, American journal of human genetics.

maternal origin . defect in three sibs with a 22 q 11 deletion of coarctation and isolated ventricular septal DiGeorge syndrome with isolated aortic

J. Burn, J. Goodship, D. Wilson, 2004 .

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

P. Scambler, J. Burn, J. Goodship, 1991, British heart journal.

Target identification and validation through genetics

Maxine Allen, A. Carey, 2004 .

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

L. Cardon, D. Jewell, D. McGovern, 2003, Human molecular genetics.

Single-point haplotype scores telomeric to human leukocyte antigen-C give a high susceptibility major histocompatibility complex haplotype for psoriasis in a Caucasian population.

M. Iles, R. Tazi-Ahnini, M. Cork, 2005, The Journal of investigative dermatology.

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

R. Shprintzen, P. Scambler, J. Goodship, 1993, American journal of medical genetics.

Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes.

A. Uitterlinden, J. V. van Meurs, J. Ioannidis, 2004, JAMA.

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11

P. Scambler, R. Williamson, J. Burn, 2004, Mammalian Genome.

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

J. Dumanski, S. Halford, J. Goodship, 1992, American journal of human genetics.

The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis

A. Uitterlinden, J. V. van Meurs, J. Ioannidis, 2006, Annals of Internal Medicine.

Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17

R. Collins, M. Farrall, J. Peden, 2006, PLoS genetics.

Indication for Linkage of the Human OB Gene Region With Extreme Obesity

K. Clément, L. Cardon, P. Froguel, 1996, Diabetes.

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

A. Baldini, S. Halford, E. Lindsay, 1993, Human molecular genetics.

Linkage analyses of schizophrenia to chromosome 6p24-p22: an attempt to replicate.

T. Crow, L. DeLisi, L. Cardon, 1996, American journal of medical genetics.

Targeted Mutagenesis of the Hira Gene Results in Gastrulation Defects and Patterning Abnormalities of Mesoendodermal Derivatives Prior to Early Embryonic Lethality

Peter J. Scambler, Helen F. Sutherland, Stephanie Halford, 2002, Molecular and Cellular Biology.

LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition

A. Hofman, A. Uitterlinden, R. Plasterk, 2007, Diabetes.

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

P. Scambler, J. Dumanski, R. Williamson, 1991, Genomics.

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.

D. Weeks, D. O'Connor, D. Duffy, 2005, American journal of human genetics.

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

D. Hunt, A. Bird, S. Bhattacharya, 2001, Molecular cell.

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.

D. J. Driscoll, M. Handel, K. Caldwell, 1999, Human molecular genetics.

Association of the TSHR gene with Graves' disease: the first disease specific locus

J. Connell, J. Franklyn, S. Gough, 2005, European Journal of Human Genetics.

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.

J. Dumanski, R. Williamson, G. Rouleau, 1990, Genomics.

Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.

L. Cardon, D. Jewell, D. McGovern, 2002, American journal of medical genetics.

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

L. Cardon, D. Jewell, P. Scambler, 2001, European Journal of Human Genetics.

Inflammatory bowel disease: progress toward a gene.

J. Satsangi, D. Jewell, D. Heel, 2000, Canadian journal of gastroenterology = Journal canadien de gastroenterologie.

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Gonçalo Abecasis, John Broxholme, Chris P Ponting, 2003, Nature Genetics.

The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system.

R. Nicholls, J. A. Marshall Graves, T. Gray, 2000, Genomics.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

L. Cardon, D. Kwiatkowski, D. Jewell, 2002 .

Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study

A. Uitterlinden, J. V. van Meurs, J. Ioannidis, 2006, PLoS medicine.

IS MONOSOMY FOR THE DIGEORGE LOCUS ON CHROMOSOME-22 RESPONSIBLE FOR ISOLATED HEART MALFORMATIONS

J. Burn, J. Goodship, D. Wilson, 1991 .

Inflammatory bowel disease is associated with a functional TNF polymorphism that affects an OCT1/NF-KB transcription factor interaction

L. Cardon, D. Kwiatkowski, D. Jewell, 2002 .

Extent and distribution of linkage disequilibrium in three genomic regions.

L R Cardon, G. Abecasis, L. Cardon, 2001, American journal of human genetics.

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

L. Cardon, D. Jewell, D. McGovern, 2003, Gut.

Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study

J. V. van Meurs, J. Ioannidis, A. Díez-Pérez, 2006, PLoS medicine.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

L. Cardon, D. Kwiatkowski, D. Jewell, 2002, Human molecular genetics.

Investigation of the GNAI2 gene in inflammatory bowel disease

J. Satsangi, D. Jewell, D. Heel, 2000 .