Mechanisms of ring chromosome formation, ring instability and clinical consequences.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 171, doi. 10.1186/1471-2350-12-171
- Publication type:
- Article
Works in BMC Medical Genetics, 2011, Vol 12, Issue 1
Results: 174
1
2
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 161, doi. 10.1186/1471-2350-12-161
- Publication type:
- Article
3
Association analysis identifies ZNF750 regulatory variants in psoriasis.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 167, doi. 10.1186/1471-2350-12-167
- Publication type:
- Article
4
Genome-wide association study identifies PERLD1 as asthma candidate gene.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 170, doi. 10.1186/1471-2350-12-170
- Publication type:
- Article
5
Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 163, doi. 10.1186/1471-2350-12-163
- Publication type:
- Article
6
Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 174, doi. 10.1186/1471-2350-12-174
- Publication type:
- Article
7
The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 173, doi. 10.1186/1471-2350-12-173
- Publication type:
- Article
8
Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 172, doi. 10.1186/1471-2350-12-172
- Publication type:
- Article
9
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 164, doi. 10.1186/1471-2350-12-164
- Publication type:
- Article
10
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 169, doi. 10.1186/1471-2350-12-169
- Publication type:
- Article
11
Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 168, doi. 10.1186/1471-2350-12-168
- Publication type:
- Article
12
Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 166, doi. 10.1186/1471-2350-12-166
- Publication type:
- Article
13
A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 165, doi. 10.1186/1471-2350-12-165
- Publication type:
- Article
14
Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 162, doi. 10.1186/1471-2350-12-162
- Publication type:
- Article
15
Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 160, doi. 10.1186/1471-2350-12-160
- Publication type:
- Article
16
The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme gene and cancer risk: a meta-analysis.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 159, doi. 10.1186/1471-2350-12-159
- Publication type:
- Article
17
Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 150, doi. 10.1186/1471-2350-12-150
- Publication type:
- Article
18
SERPINE2 haplotype as a risk factor for panlobular type of emphysema.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 157, doi. 10.1186/1471-2350-12-157
- Publication type:
- Article
19
Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 156, doi. 10.1186/1471-2350-12-156
- Publication type:
- Article
20
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 152, doi. 10.1186/1471-2350-12-152
- Publication type:
- Article
21
Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzyme gene.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 151, doi. 10.1186/1471-2350-12-151
- Publication type:
- Article
22
Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 158, doi. 10.1186/1471-2350-12-158
- Publication type:
- Article
23
Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 149, doi. 10.1186/1471-2350-12-149
- Publication type:
- Article
24
Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 115, doi. 10.1186/1471-2350-12-115
- Publication type:
- Article
25
Heritability of physical activity traits in Brazilian families: the Baependi Heart Study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 155, doi. 10.1186/1471-2350-12-155
- Publication type:
- Article
26
High frequency of known copy number abnormalities and maternal duplication 15q11- q13 in patients with combined schizophrenia and epilepsy.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 154, doi. 10.1186/1471-2350-12-154
- Publication type:
- Article
27
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 153, doi. 10.1186/1471-2350-12-153
- Publication type:
- Article
28
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 148, doi. 10.1186/1471-2350-12-148
- Publication type:
- Article
29
Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 147, doi. 10.1186/1471-2350-12-147
- Publication type:
- Article
30
Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 146, doi. 10.1186/1471-2350-12-146
- Publication type:
- Article
31
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 145, doi. 10.1186/1471-2350-12-145
- Publication type:
- Article
32
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 144, doi. 10.1186/1471-2350-12-144
- Publication type:
- Article
33
Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 143, doi. 10.1186/1471-2350-12-143
- Publication type:
- Article
34
Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 141, doi. 10.1186/1471-2350-12-141
- Publication type:
- Article
35
Serotonin receptor 3A polymorphism c.-42C > T is associated with severe dyspepsia.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 140, doi. 10.1186/1471-2350-12-140
- Publication type:
- Article
36
Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 139, doi. 10.1186/1471-2350-12-139
- Publication type:
- Article
37
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 138, doi. 10.1186/1471-2350-12-138
- Publication type:
- Article
38
Pharmacogenetic analysis of the effects of polymorphisms in APOE, IDE and IL1B on a ketone body based therapeutic on cognition in mild to moderate Alzheimer's disease; a randomized, double-blind, placebo-controlled study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 137, doi. 10.1186/1471-2350-12-137
- Publication type:
- Article
39
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 135, doi. 10.1186/1471-2350-12-135
- Publication type:
- Article
40
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 134, doi. 10.1186/1471-2350-12-134
- Publication type:
- Article
41
Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 133, doi. 10.1186/1471-2350-12-133
- Publication type:
- Article
42
TNFA-863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 132, doi. 10.1186/1471-2350-12-132
- Publication type:
- Article
43
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 131, doi. 10.1186/1471-2350-12-131
- Publication type:
- Article
44
IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 142, doi. 10.1186/1471-2350-12-142
- Publication type:
- Article
45
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 136, doi. 10.1186/1471-2350-12-136
- Publication type:
- Article
46
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 130, doi. 10.1186/1471-2350-12-130
- Publication type:
- Article
47
Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 129, doi. 10.1186/1471-2350-12-129
- Publication type:
- Article
48
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report.
- Published in:
- 2011
- Publication type:
- Case Study
49
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 127, doi. 10.1186/1471-2350-12-127
- Publication type:
- Article
50
Association of C1QB gene polymorphism with schizophrenia in Armenian population.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 126, doi. 10.1186/1471-2350-12-126
- Publication type:
- Article