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Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia

Human molecular genetics, 2012-09, Vol.21 (18), p.3941-3955

2012

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Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Human molecular genetics, 2012-08, Vol.21 (15), p.3500-3512

2012

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Identification of a novel percent mammographic density locus at 12q24

Human molecular genetics, 2012-07, Vol.21 (14), p.3299-3305

2012

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Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

Human molecular genetics, 2012-07, Vol.21 (14), p.3193-3204

2012

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Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies

Human molecular genetics, 2012-05, Vol.21 (9), p.2132-2141

2012

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Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence

Human molecular genetics, 2012-02, Vol.21 (3), p.647-655

2012

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Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1 p31 and 7q32 risk variants

Human molecular genetics, 2012, Vol.21 (23), p.5209-5221

2012

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Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium

Human molecular genetics, 2011-12, Vol.20 (24), p.4991-4999

2011

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Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy

Human molecular genetics, 2011-12, Vol.20 (23), p.4582-4596

2011

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Normal mammalian cells negatively regulate telomere length by telomere trimming

Human molecular genetics, 2011-12, Vol.20 (23), p.4684-4692

2011

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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

Human molecular genetics, 2011-11, Vol.20 (22), p.4360-4370

2011

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The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease

Human molecular genetics, 2011-11, Vol.20 (21), p.4116-4131

2011

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Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma

Human molecular genetics, 2011-09, Vol.20 (18), p.3718-3724

2011

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Internal deletion compromises the stability of dystrophin

Human molecular genetics, 2011-08, Vol.20 (15), p.2955-2963

2011

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A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility

Human molecular genetics, 2011-08, Vol.20 (15), p.3109-3117

2011

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Biochemical analysis of human POLG2 variants associated with mitochondrial disease

Human molecular genetics, 2011-08, Vol.20 (15), p.3052-3066

2011

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Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk

Human molecular genetics, 2011-07, Vol.20 (13), p.2673-2679

2011

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Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium

Human molecular genetics, 2011-06, Vol.20 (11), p.2285-2295

2011

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Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1

Human molecular genetics, 2011-05, Vol.20 (9), p.1738-1750

2011

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Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation

Human molecular genetics, 2011-04, Vol.20 (7), p.1424-1437

2011

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Global patterns of genetic diversity and signals of natural selection for human ADME genes

Human molecular genetics, 2011-02, Vol.20 (3), p.528-540

2011

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Meclizine is neuroprotective in models of Huntington's disease

Human molecular genetics, 2011-01, Vol.20 (2), p.294-300

2011

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1 – 25 von 139

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Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Identification of a novel percent mammographic density locus at 12q24

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1 p31 and 7q32 risk variants

Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy

Normal mammalian cells negatively regulate telomere length by telomere trimming

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease

Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma

Internal deletion compromises the stability of dystrophin

A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility

Biochemical analysis of human POLG2 variants associated with mitochondrial disease

Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium

Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1

Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation

Global patterns of genetic diversity and signals of natural selection for human ADME genes

ELF1 is associated with systemic lupus erythematosus in Asian populations

Meclizine is neuroprotective in models of Huntington's disease

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