Wellcome Trust Centre for Human Genetics
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Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia.
Nature genetics Jan, 2002 | Pubmed ID: 11743577
A genomewide linkage screen for relative hand skill in sibling pairs.
American journal of human genetics Mar, 2002 | Pubmed ID: 11774074
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
The Journal of investigative dermatology Feb, 2002 | Pubmed ID: 11841554
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene Jan, 2002 | Pubmed ID: 11867209
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.
Psychiatric genetics Mar, 2002 | Pubmed ID: 11901358
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
American journal of human genetics May, 2002 | Pubmed ID: 11923911
Clinical features and molecular bases of neuroacanthocytosis.
Journal of molecular medicine (Berlin, Germany) Aug, 2002 | Pubmed ID: 12185448
Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.
American journal of human genetics Oct, 2002 | Pubmed ID: 12187510
Molecular evolution of FOXP2, a gene involved in speech and language.
Nature Aug, 2002 | Pubmed ID: 12192408
Enteric drainage of a pancreas allograft is safe for patients with celiac sprue.
Clinical transplantation Oct, 2002 | Pubmed ID: 12225438
Autism: in search of susceptibility genes.
Neuromolecular medicine , 2002 | Pubmed ID: 12230302
Immunologic mechanisms in tolerance produced in mice with nonradiation-based lymphoablation and donor-specific bone marrow.
Transplantation Aug, 2002 | Pubmed ID: 12352905
Management of thrombophilia in renal transplant patients.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons Oct, 2002 | Pubmed ID: 12392294
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
Human molecular genetics Nov, 2002 | Pubmed ID: 12393797
Molecular genetics of speech and language disorders.
Current opinion in pediatrics Dec, 2002 | Pubmed ID: 12436038
Talking genes - the molecular basis of language impairment.
Biologist (London, England) Dec, 2002 | Pubmed ID: 12486301
Prevention of autoimmune diabetes by FTY720 in nonobese diabetic mice.
Transplantation Dec, 2002 | Pubmed ID: 12499880
Deciphering the genetic basis of speech and language disorders.
Annual review of neuroscience , 2003 | Pubmed ID: 12524432
Use of multivariate linkage analysis for dissection of a complex cognitive trait.
American journal of human genetics Mar, 2003 | Pubmed ID: 12587094
Confirmatory evidence for linkage of relative hand skill to 2p12-q11.
American journal of human genetics Feb, 2003 | Pubmed ID: 12596796
Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
Movement disorders : official journal of the Movement Disorder Society Apr, 2003 | Pubmed ID: 12671946
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.
American journal of human genetics May, 2003 | Pubmed ID: 12687500
Genomic studies of gene expression: regulation of the Wilson disease gene.
Genomics Jun, 2003 | Pubmed ID: 12782122
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway.
Human molecular genetics Jul, 2003 | Pubmed ID: 12812980
Chimerism in organ transplantation: conflicting experiments and clinical observations.
Transplantation May, 2003 | Pubmed ID: 12819484
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Human molecular genetics Jul, 2003 | Pubmed ID: 12837694
The genetic basis of dyslexia.
Lancet neurology Dec, 2002 | Pubmed ID: 12849333
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
Brain : a journal of neurology Nov, 2003 | Pubmed ID: 12876151
Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11.
Human molecular genetics Dec, 2003 | Pubmed ID: 14583442
Familial and genetic effects on motor coordination, laterality, and reading-related cognition.
The American journal of psychiatry Nov, 2003 | Pubmed ID: 14594743
Aberrant trafficking of transmembrane proteins in human disease.
Trends in cell biology Dec, 2003 | Pubmed ID: 14624842
Geographic disparities in access to organ transplantation.
Transplantation Nov, 2003 | Pubmed ID: 14627920
Tolerance comes of age. Editorial comment.
Transplantation Nov, 2003 | Pubmed ID: 14657673
Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface.
Molecular membrane biology Jan-Feb, 2004 | Pubmed ID: 14668139
Regulatory T cells finally get the attention they deserve.
Transplantation Jan, 2004 | Pubmed ID: 14726757
A meta-analysis from the Cochrane Library reviewing interleukin 2 receptor antagonists in renal transplantation.
Transplantation Jan, 2004 | Pubmed ID: 14742975
Clinical Tolerance: the end of the beginning.
Transplantation Mar, 2004 | Pubmed ID: 15077038
Renal transplant survival from older donors: a single center experience.
Archives of surgery (Chicago, Ill. : 1960) Apr, 2004 | Pubmed ID: 15078705
HLA in the allocation of cadaver kidneys: a global perspective.
Transplantation Feb, 2004 | Pubmed ID: 15084945
Chorein detection for the diagnosis of chorea-acanthocytosis.
Annals of neurology Aug, 2004 | Pubmed ID: 15293285
Active role of chimerism in transplantation tolerance induced by antilymphocyte serum, sirolimus, and bone-marrow-cell infusion.
Transplantation Sep, 2004 | Pubmed ID: 15385800
Ethical issues and xenotransplantation.
Transplantation Oct, 2004 | Pubmed ID: 15502701
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
American journal of human genetics Dec, 2004 | Pubmed ID: 15514892
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
European journal of human genetics : EJHG Feb, 2005 | Pubmed ID: 15523497
Care of the live kidney donor: consensus on the ultimate gift.
Transplantation Mar, 2005 | Pubmed ID: 15785360
Early clinical heterogeneity in choreoacanthocytosis.
Archives of neurology Apr, 2005 | Pubmed ID: 15824261
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
American journal of human genetics Jun, 2005 | Pubmed ID: 15830322
The beginning of clinical tolerance in solid organ allografts.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation Jun, 2004 | Pubmed ID: 15859922
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
American journal of human genetics Jun, 2005 | Pubmed ID: 15877281
Reduction in calcineurin inhibitor exposure and maintenance of effective immunosuppression: clinical experience with everolimus (Certican).
Transplantation May, 2005 | Pubmed ID: 15880017
Prevention and cure of autoimmune diabetes in nonobese diabetic mice by continuous administration of FTY720.
Transplantation May, 2005 | Pubmed ID: 15880042
On the intraoperative molecular status of renal allografts after vascular reperfusion and clinical outcomes.
Journal of the American Society of Nephrology : JASN Jun, 2005 | Pubmed ID: 15888558
Pancreatic islet transplantation: is the glass half-empty or half-full?
Transplantation May, 2005 | Pubmed ID: 15912089
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
Neurogenetics Sep, 2005 | Pubmed ID: 15918062
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Epilepsia Aug, 2005 | Pubmed ID: 16060937
Older living donors provide excellent quality kidneys: a single center experience (older living donors).
Clinical transplantation Oct, 2005 | Pubmed ID: 16146550
Genetic influences on language impairment and phonological short-term memory.
Trends in cognitive sciences Nov, 2005 | Pubmed ID: 16188486
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
European journal of human genetics : EJHG Jan, 2006 | Pubmed ID: 16205742
Intensive care unit extubation does not preclude extrarenal organ recovery from donors after cardiac death.
Transplantation Nov, 2005 | Pubmed ID: 16314792
Good samaritan kidney donation.
Transplantation Nov, 2005 | Pubmed ID: 16340776
Utility of a mathematical nomogram to predict delayed graft function: a single-center experience.
Transplantation Jan, 2006 | Pubmed ID: 16436956
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.
Human molecular genetics May, 2006 | Pubmed ID: 16600991
Use of an immune function assay to monitor immunosuppression for treatment of post-transplant lymphoproliferative disorder.
Pediatric transplantation Aug, 2006 | Pubmed ID: 16856999
Editorial comment: the other consequences of CMV infection.
Transplantation Jul, 2006 | Pubmed ID: 16858267
Costs of ABO incompatible living donor transplantation are justified.
Transplantation Jul, 2006 | Pubmed ID: 16858273
Living kidney donation: evolution and technical aspects of donor nephrectomy.
The Surgical clinics of North America Oct, 2006 | Pubmed ID: 16962411
Cell biology of membrane trafficking in human disease.
International review of cytology , 2006 | Pubmed ID: 16984815
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Human mutation Nov, 2006 | Pubmed ID: 17041877
Introduction of Sir Peter John Morris.
Transplantation Dec, 2006 | Pubmed ID: 17198240
Reducing the financial disincentives to living kidney donation: will compensation help the way it is supposed to?
Nature clinical practice. Nephrology Mar, 2007 | Pubmed ID: 17245328
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics Mar, 2007 | Pubmed ID: 17322880
Multivariate linkage analysis of specific language impairment (SLI).
Annals of human genetics Sep, 2007 | Pubmed ID: 17388790
The genetic lexicon of dyslexia.
Annual review of genomics and human genetics , 2007 | Pubmed ID: 17444811
Is there a rational solution to the kidney shortage?
Medicine and health, Rhode Island Mar, 2007 | Pubmed ID: 17601289
Editorial comment: a role for alloimmune response mediators in tolerance induction?
Transplantation Jul, 2007 | Pubmed ID: 17632404
Alternative splicing in the dyslexia-associated gene KIAA0319.
Mammalian genome : official journal of the International Mammalian Genome Society Sep, 2007 | Pubmed ID: 17846832
Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking.
American journal of physiology. Cell physiology Dec, 2007 | Pubmed ID: 17913844
Instant electronic access to randomized controlled trials (RCT).
Transplantation Oct, 2007 | Pubmed ID: 17989594
Choreoacanthocytosis in a Mexican family.
Archives of neurology Nov, 2007 | Pubmed ID: 17998451
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
Human molecular genetics Mar, 2008 | Pubmed ID: 18063668
SV40 infection associated with rituximab treatment after kidney transplantation in nonhuman primates.
Transplantation Mar, 2008 | Pubmed ID: 18360273
Oxidised LDL internalisation by the LOX-1 scavenger receptor is dependent on a novel cytoplasmic motif and is regulated by dynamin-2.
Journal of cell science Jul, 2008 | Pubmed ID: 18544637
Evidence in transplantation: randomized versus nonrandomized studies.
Transplantation Jul, 2008 | Pubmed ID: 18622270
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.
The American journal of psychiatry Dec, 2008 | Pubmed ID: 18829873
A functional genetic link between distinct developmental language disorders.
The New England journal of medicine Nov, 2008 | Pubmed ID: 18987363
MET and autism susceptibility: family and case-control studies.
European journal of human genetics : EJHG Jun, 2009 | Pubmed ID: 19002214
A 15q13.3 microdeletion segregating with autism.
European journal of human genetics : EJHG May, 2009 | Pubmed ID: 19050728
Transplantation: a report of progress.
Transplantation Dec, 2008 | Pubmed ID: 19104394
The role of mTOR inhibitors in the management of posttransplant malignancy.
Transplantation Jan, 2009 | Pubmed ID: 19155967
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.
American journal of human genetics Feb, 2009 | Pubmed ID: 19200526
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
American journal of medical genetics. Part A Feb, 2009 | Pubmed ID: 19267418
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
PLoS genetics Mar, 2009 | Pubmed ID: 19325871
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.
European journal of human genetics : EJHG Oct, 2009 | Pubmed ID: 19352412
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
European journal of human genetics : EJHG Oct, 2009 | Pubmed ID: 19384346
The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.
American journal of physiology. Cell physiology Jul, 2009 | Pubmed ID: 19419997
Editorial commentary: 2007 and 2008 Beaune seminars in transplantation research.
Transplantation May, 2009 | Pubmed ID: 19424001
CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
American journal of human genetics Aug, 2009 | Pubmed ID: 19646677
Outcomes with conversion from calcineurin inhibitors to sirolimus after renal transplantation in the context of steroid withdrawal or steroid continuation.
Transplantation Sep, 2009 | Pubmed ID: 19741466
Gene expression profiling of the donor kidney at the time of transplantation predicts clinical outcomes 2 years after transplantation.
Human immunology May, 2010 | Pubmed ID: 20156509
Outcome and allocation of deceased heart-beating donor kidneys in the United kingdom.
Transplantation Feb, 2010 | Pubmed ID: 20177336
Recent advances in the genetics of language impairment.
Genome medicine , 2010 | Pubmed ID: 20193051
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
Biological psychiatry Aug, 2010 | Pubmed ID: 20346443
Rabbit antithymocyte globulin (thymoglobulin): 25 years and new frontiers in solid organ transplantation and haematology.
Drugs Apr, 2010 | Pubmed ID: 20394456
Linkage and candidate gene studies of autism spectrum disorders in European populations.
European journal of human genetics : EJHG Sep, 2010 | Pubmed ID: 20442744
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature Jul, 2010 | Pubmed ID: 20531469
A genome-wide scan for common alleles affecting risk for autism.
Human molecular genetics Oct, 2010 | Pubmed ID: 20663923
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
Molecular autism , 2010 | Pubmed ID: 20678249
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Science translational medicine Sep, 2010 | Pubmed ID: 20844286
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Human mutation Nov, 2010 | Pubmed ID: 20848658
The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage.
The Journal of biological chemistry Dec, 2010 | Pubmed ID: 20943657
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Journal of medical genetics Jan, 2011 | Pubmed ID: 20972252
PCSK6 is associated with handedness in individuals with dyslexia.
Human molecular genetics Feb, 2011 | Pubmed ID: 21051773
Identification of candidate genes for dyslexia susceptibility on chromosome 18.
PloS one , 2010 | Pubmed ID: 21060895
Transplantation: a report of progress.
Transplantation Dec, 2010 | Pubmed ID: 21160404
Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.
European journal of human genetics : EJHG Jun, 2011 | Pubmed ID: 21248734
DCDC2, KIAA0319 and CMIP are associated with reading-related traits.
Biological psychiatry Aug, 2011 | Pubmed ID: 21457949
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Journal of neurodevelopmental disorders Jun, 2011 | Pubmed ID: 21484199
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.
Journal of neurodevelopmental disorders Jun, 2011 | Pubmed ID: 21484201
Chronic renal allograft damage: not enough immunosuppression?
Transplantation May, 2011 | Pubmed ID: 21519212
Everolimus and long-term outcomes in renal transplantation: seeking an optimal strategy for immunosuppression.
Transplantation Aug, 2011 | Pubmed ID: 21799391
Links between genetics and pathophysiology in the autism spectrum disorders.
EMBO molecular medicine Aug, 2011 | Pubmed ID: 21805639
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
Archives of neurology Oct, 2011 | Pubmed ID: 21987550
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Human genetics Oct, 2011 | Pubmed ID: 21996756