nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A 115-bp MethyLight assay for detection of p16 (CDKN2A) methylation as a diagnostic biomarker in human tissues
|
Zhou, Jing |
|
2011 |
12 |
1 |
|
artikel |
2 |
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia
|
Mouzat, Kevin |
|
2011 |
12 |
1 |
|
artikel |
3 |
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
|
Imtiaz, Faiqa |
|
2011 |
12 |
1 |
|
artikel |
4 |
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
|
Fenwick, Aimee L |
|
2011 |
12 |
1 |
|
artikel |
5 |
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer
|
Garcia-Casado, Zaida |
|
2011 |
12 |
1 |
|
artikel |
6 |
A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes
|
Della-Morte, David |
|
2011 |
12 |
1 |
|
artikel |
7 |
Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever
|
Kirectepe, Asli K |
|
2011 |
12 |
1 |
|
artikel |
8 |
Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19
|
Lillvis, John H |
|
2011 |
12 |
1 |
|
artikel |
9 |
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
|
Al-Khateeb, Alyaa |
|
2011 |
12 |
1 |
|
artikel |
10 |
An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion
|
Stanke, Frauke |
|
2011 |
12 |
1 |
|
artikel |
11 |
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition
|
Muller, Danièle |
|
2011 |
12 |
1 |
|
artikel |
12 |
ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial
|
Smart-Halajko, Melissa C |
|
2011 |
12 |
1 |
|
artikel |
13 |
An interaction between Nrf2 polymorphisms and smoking status affects annual decline in FEV1: a longitudinal retrospective cohort study
|
Masuko, Hironori |
|
2011 |
12 |
1 |
|
artikel |
14 |
A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
|
Wang, Jenny Z |
|
2011 |
12 |
1 |
|
artikel |
15 |
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin
|
Dai, Li |
|
2011 |
12 |
1 |
|
artikel |
16 |
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
|
Khan, Muzammil Ahmad |
|
2011 |
12 |
1 |
|
artikel |
17 |
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
|
Manes, Gaël |
|
2011 |
12 |
1 |
|
artikel |
18 |
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients
|
Wang, Zhiqing |
|
2011 |
12 |
1 |
|
artikel |
19 |
Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles
|
Carter, Ashley JR |
|
2011 |
12 |
1 |
|
artikel |
20 |
Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism
|
Aragonès, Gerard |
|
2011 |
12 |
1 |
|
artikel |
21 |
A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease
|
Sanchez-Juan, Pascual |
|
2011 |
12 |
1 |
|
artikel |
22 |
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis
|
Sarasola, Esther |
|
2011 |
12 |
1 |
|
artikel |
23 |
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
|
Andersen, Vibeke |
|
2011 |
12 |
1 |
|
artikel |
24 |
Association analysis identifies ZNF750 regulatory variants in psoriasis
|
Birnbaum, Ramon Y |
|
2011 |
12 |
1 |
|
artikel |
25 |
Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus
|
Dasgupta, Sudeshna |
|
2011 |
12 |
1 |
|
artikel |
26 |
Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis
|
Mo, Xingbo |
|
2011 |
12 |
1 |
|
artikel |
27 |
Association of ADIPOQ gene variants with body weight, type 2 diabetes and serum adiponectin concentrations: the Finnish Diabetes Prevention Study
|
Siitonen, Niina |
|
2011 |
12 |
1 |
|
artikel |
28 |
Association of CD14 -260 (-159) C>T and asthma: a systematic review and meta-analysis
|
Zhao, Linlu |
|
2011 |
12 |
1 |
|
artikel |
29 |
Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders
|
Penas-Steinhardt, Alberto |
|
2011 |
12 |
1 |
|
artikel |
30 |
Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults
|
Schreiner, Felix |
|
2011 |
12 |
1 |
|
artikel |
31 |
Association of C1QB gene polymorphism with schizophrenia in Armenian population
|
Zakharyan, Roksana |
|
2011 |
12 |
1 |
|
artikel |
32 |
Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population
|
Fang, QiuRong |
|
2011 |
12 |
1 |
|
artikel |
33 |
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
|
Vieira, Suzana M |
|
2011 |
12 |
1 |
|
artikel |
34 |
Association of HLA-B*5801 allele and allopurinol-induced stevens johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis
|
Somkrua, Ratchadaporn |
|
2011 |
12 |
1 |
|
artikel |
35 |
Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis
|
de Souza, Fladjule Rejane Soares |
|
2011 |
12 |
1 |
|
artikel |
36 |
Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease
|
Clark, Joanne |
|
2011 |
12 |
1 |
|
artikel |
37 |
Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder
|
Lung, For-Wey |
|
2011 |
12 |
1 |
|
artikel |
38 |
Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study
|
Ling, Yan |
|
2011 |
12 |
1 |
|
artikel |
39 |
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
|
Almoguera, Berta |
|
2011 |
12 |
1 |
|
artikel |
40 |
A validation of the first genome-wide association study of calcaneus ultrasound parameters in the European Male Ageing Study
|
Roshandel, Delnaz |
|
2011 |
12 |
1 |
|
artikel |
41 |
BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility
|
Zhang, Ning |
|
2011 |
12 |
1 |
|
artikel |
42 |
Bio-Repository of DNA in stroke (BRAINS): A study protocol
|
Yadav, Sunaina |
|
2011 |
12 |
1 |
|
artikel |
43 |
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
|
Keppler-Noreuil, Kim M |
|
2011 |
12 |
1 |
|
artikel |
44 |
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report
|
Torrezan, Giovana T |
|
2011 |
12 |
1 |
|
artikel |
45 |
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families
|
Jennes, Ivy |
|
2011 |
12 |
1 |
|
artikel |
46 |
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
|
Myking, Solveig |
|
2011 |
12 |
1 |
|
artikel |
47 |
Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
|
Miyake, Yoshihiro |
|
2011 |
12 |
1 |
|
artikel |
48 |
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
|
Furtado, Larissa V |
|
2011 |
12 |
1 |
|
artikel |
49 |
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients
|
Thoms, Sven |
|
2011 |
12 |
1 |
|
artikel |
50 |
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia
|
Kim, Mi-Jung |
|
2011 |
12 |
1 |
|
artikel |
51 |
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
|
Magri, Francesca |
|
2011 |
12 |
1 |
|
artikel |
52 |
Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia
|
Bohlega, Saeed A |
|
2011 |
12 |
1 |
|
artikel |
53 |
Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly
|
Liao, Hsiao-Mei |
|
2011 |
12 |
1 |
|
artikel |
54 |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations
|
Li, Xin-Hua |
|
2011 |
12 |
1 |
|
artikel |
55 |
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels
|
Antoni, Guillemette |
|
2011 |
12 |
1 |
|
artikel |
56 |
Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
|
McGregor, Tracy L |
|
2011 |
12 |
1 |
|
artikel |
57 |
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
|
Núñez-Torres, Rocio |
|
2011 |
12 |
1 |
|
artikel |
58 |
Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes
|
Lange, Nancy E |
|
2011 |
12 |
1 |
|
artikel |
59 |
CRP polymorphisms and chronic kidney disease in the third national health and nutrition examination survey
|
Hung, Adriana M |
|
2011 |
12 |
1 |
|
artikel |
60 |
CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
|
Santos, Paulo CJL |
|
2011 |
12 |
1 |
|
artikel |
61 |
De novo deletion in MECP2 in a monozygotic twin pair: a case report
|
Mittal, Kirti |
|
2011 |
12 |
1 |
|
artikel |
62 |
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
|
Xu, Yue-Juan |
|
2011 |
12 |
1 |
|
artikel |
63 |
Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzyme gene
|
Bartl, Jasmin |
|
2011 |
12 |
1 |
|
artikel |
64 |
Effect of heme oxygenase-1 polymorphisms on lung function and gene expression
|
Tanaka, Goh |
|
2011 |
12 |
1 |
|
artikel |
65 |
Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1
|
Sordillo, Joanne E |
|
2011 |
12 |
1 |
|
artikel |
66 |
Effects of genetic variations in the Adiponectin pathway genes on the risk of colorectal cancer in the Chinese population
|
He, Bangshun |
|
2011 |
12 |
1 |
|
artikel |
67 |
Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts
|
Tönjes, Anke |
|
2011 |
12 |
1 |
|
artikel |
68 |
Enhanced genetic maps from family-based disease studies: population-specific comparisons
|
He, Chunsheng |
|
2011 |
12 |
1 |
|
artikel |
69 |
Estrogen and progesterone-related gene variants and colorectal cancer risk in women
|
Lin, Jennifer H |
|
2011 |
12 |
1 |
|
artikel |
70 |
Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study)
|
Hertel, Jens K |
|
2011 |
12 |
1 |
|
artikel |
71 |
Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population
|
Joubert, Bonnie R |
|
2011 |
12 |
1 |
|
artikel |
72 |
Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study
|
Peter, Inga |
|
2011 |
12 |
1 |
|
artikel |
73 |
Evaluation of variants in the selectin genes in age-related macular degeneration
|
Mullins, Robert F |
|
2011 |
12 |
1 |
|
artikel |
74 |
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
|
Castillejo, Adela |
|
2011 |
12 |
1 |
|
artikel |
75 |
Evidence for population variation in TSC1 and TSC2 gene expression
|
Jentarra, Garilyn M |
|
2011 |
12 |
1 |
|
artikel |
76 |
Evidence of association with type 1 diabetes in the SLC11A1 gene region
|
Yang, Jennie HM |
|
2011 |
12 |
1 |
|
artikel |
77 |
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
|
Gregor, Anne |
|
2011 |
12 |
1 |
|
artikel |
78 |
Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study
|
Hill, Lori D |
|
2011 |
12 |
1 |
|
artikel |
79 |
Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study
|
Wernimont, Susan M |
|
2011 |
12 |
1 |
|
artikel |
80 |
Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients
|
Qiao, Boling |
|
2011 |
12 |
1 |
|
artikel |
81 |
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
|
Zheleznyakova, Galina Yu |
|
2011 |
12 |
1 |
|
artikel |
82 |
Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India
|
Mehrotra, Sanjana |
|
2011 |
12 |
1 |
|
artikel |
83 |
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
|
Morey, Marcos |
|
2011 |
12 |
1 |
|
artikel |
84 |
Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians
|
Suriapranata, Ivet M |
|
2011 |
12 |
1 |
|
artikel |
85 |
Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder
|
Aneiros-Guerrero, Angel |
|
2011 |
12 |
1 |
|
artikel |
86 |
Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes
|
Arora, Paul |
|
2011 |
12 |
1 |
|
artikel |
87 |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults
|
Kelempisioti, Anthi |
|
2011 |
12 |
1 |
|
artikel |
88 |
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits
|
Middelberg, Rita PS |
|
2011 |
12 |
1 |
|
artikel |
89 |
Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis
|
Tou, Jinfa |
|
2011 |
12 |
1 |
|
artikel |
90 |
Genetic variation of Glucose Transporter-1 (GLUT1) and albuminuria in 10,278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) Study
|
Hsu, Charles C |
|
2011 |
12 |
1 |
|
artikel |
91 |
Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
|
Liu, Xinmin |
|
2011 |
12 |
1 |
|
artikel |
92 |
Genome-wide association study identifies PERLD1 as asthma candidate gene
|
Anantharaman, Ramani |
|
2011 |
12 |
1 |
|
artikel |
93 |
Genome Wide Association Study to predict severe asthma exacerbations in children using random forests classifiers
|
Xu, Mousheng |
|
2011 |
12 |
1 |
|
artikel |
94 |
Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease
|
Brønstad, Ingeborg |
|
2011 |
12 |
1 |
|
artikel |
95 |
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
|
Almind, Gitte J |
|
2011 |
12 |
1 |
|
artikel |
96 |
Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia
|
Plakhins, Grigorijs |
|
2011 |
12 |
1 |
|
artikel |
97 |
Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease
|
Ding, Keyue |
|
2011 |
12 |
1 |
|
artikel |
98 |
Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study
|
Uchida, Yasue |
|
2011 |
12 |
1 |
|
artikel |
99 |
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study
|
Foster, Meredith C |
|
2011 |
12 |
1 |
|
artikel |
100 |
Heritability of physical activity traits in Brazilian families: the Baependi Heart Study
|
Horimoto, Andréa RVR |
|
2011 |
12 |
1 |
|
artikel |
101 |
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
|
Stewart, Larissa R |
|
2011 |
12 |
1 |
|
artikel |
102 |
HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study
|
Ley, Sylvia H |
|
2011 |
12 |
1 |
|
artikel |
103 |
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene
|
Ghahramani Seno, Mohammad M |
|
2011 |
12 |
1 |
|
artikel |
104 |
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
|
Yu, Chaowen |
|
2011 |
12 |
1 |
|
artikel |
105 |
Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics
|
Feehan, Michael |
|
2011 |
12 |
1 |
|
artikel |
106 |
IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan
|
Miyake, Yoshihiro |
|
2011 |
12 |
1 |
|
artikel |
107 |
Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study
|
Teruel, Beatriz Marcheco |
|
2011 |
12 |
1 |
|
artikel |
108 |
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome
|
Morgan, Thomas M |
|
2011 |
12 |
1 |
|
artikel |
109 |
KCNE1 D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?
|
Lahtinen, Annukka M |
|
2011 |
12 |
1 |
|
artikel |
110 |
Lack of association between gene polymorphisms of Angiotensin converting enzyme, Nod-like receptor 1, Toll-like receptor 4, FAS/FASL and the presence of Helicobacter pylori-induced premalignant gastric lesions and gastric cancer in Caucasians
|
Kupcinskas, Juozas |
|
2011 |
12 |
1 |
|
artikel |
111 |
Lack of association between genetic polymorphisms within DUSP12 - ATF6 locus and glucose metabolism related traits in a Chinese population
|
Hu, Cheng |
|
2011 |
12 |
1 |
|
artikel |
112 |
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
|
Hung, Chia-Cheng |
|
2011 |
12 |
1 |
|
artikel |
113 |
Mechanisms of ring chromosome formation, ring instability and clinical consequences
|
Guilherme, Roberta S |
|
2011 |
12 |
1 |
|
artikel |
114 |
Melatonin receptor 1 B polymorphisms associated with the risk of gestational diabetes mellitus
|
Kim, Jason Y |
|
2011 |
12 |
1 |
|
artikel |
115 |
Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development
|
Brisbin, Abra G |
|
2011 |
12 |
1 |
|
artikel |
116 |
Methylenetetrahydrofolate reductase C677T polymorphism in patients with lung cancer in a Korean population
|
Cui, Lian-Hua |
|
2011 |
12 |
1 |
|
artikel |
117 |
Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching
|
Fragall, Clayton T |
|
2011 |
12 |
1 |
|
artikel |
118 |
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
|
Salih, Mustafa A |
|
2011 |
12 |
1 |
|
artikel |
119 |
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
|
Boyden, Steven E |
|
2011 |
12 |
1 |
|
artikel |
120 |
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report
|
Vasovčák, Peter |
|
2011 |
12 |
1 |
|
artikel |
121 |
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability
|
Pagan, Cecile |
|
2011 |
12 |
1 |
|
artikel |
122 |
Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families
|
Vuorela, Mikko |
|
2011 |
12 |
1 |
|
artikel |
123 |
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
|
Steinlein, Ortrud K |
|
2011 |
12 |
1 |
|
artikel |
124 |
New adipokines vaspin and omentin. Circulating levels and gene expression in adipose tissue from morbidly obese women
|
Auguet, Teresa |
|
2011 |
12 |
1 |
|
artikel |
125 |
No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin
|
Tabassum, Rubina |
|
2011 |
12 |
1 |
|
artikel |
126 |
No evidence for association between SLC11A1 and visceral leishmaniasis in India
|
Mehrotra, Sanjana |
|
2011 |
12 |
1 |
|
artikel |
127 |
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
|
Conte, Chiara |
|
2011 |
12 |
1 |
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artikel |
128 |
Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma
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Rushefski, Melanie |
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2011 |
12 |
1 |
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artikel |
129 |
Parental ages and levels of DNA methylation in the newborn are correlated
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Adkins, Ronald M |
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2011 |
12 |
1 |
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artikel |
130 |
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
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Henderson, Samuel T |
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2011 |
12 |
1 |
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artikel |
131 |
Pituitary tumor transforming gene-1 haplotypes and risk of pituitary adenoma: a case-control study
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Chen, Shuai |
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2011 |
12 |
1 |
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artikel |
132 |
Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study
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Emonts, Marieke |
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2011 |
12 |
1 |
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artikel |
133 |
Polymorphisms of CD16A and CD32 Fcγ receptors and circulating immune complexes in Ménière's disease: a case-control study
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Lopez-Escamez, José A |
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2011 |
12 |
1 |
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artikel |
134 |
PTPRF is disrupted in a patient with syndromic amastia
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Ausavarat, Surasawadee |
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2011 |
12 |
1 |
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artikel |
135 |
Rapid screening for chromosomal aneuploidies using array-MLPA
|
Yan, Jing-Bin |
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2011 |
12 |
1 |
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artikel |
136 |
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
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Álvarez-Iglesias, Vanesa |
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2011 |
12 |
1 |
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artikel |
137 |
Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk
|
Simonson, Matthew A |
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2011 |
12 |
1 |
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artikel |
138 |
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses
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Trompet, Stella |
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2011 |
12 |
1 |
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artikel |
139 |
Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population
|
Suazo, José |
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2011 |
12 |
1 |
|
artikel |
140 |
Serotonin receptor 3A polymorphism c.-42C > T is associated with severe dyspepsia
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Mujakovic, Suhreta |
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2011 |
12 |
1 |
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artikel |
141 |
Serotonin transporter gene polymorphism may be associated with functional dyspepsia in a Japanese population
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Toyoshima, Fumihiko |
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2011 |
12 |
1 |
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artikel |
142 |
SERPINE2 haplotype as a risk factor for panlobular type of emphysema
|
Kukkonen, Mari K |
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2011 |
12 |
1 |
|
artikel |
143 |
Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population
|
Hamajima, Nobuyuki |
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2011 |
12 |
1 |
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artikel |
144 |
Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM)
|
Chen, Wei-Min |
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2011 |
12 |
1 |
|
artikel |
145 |
Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population
|
Zhu, Jing |
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2011 |
12 |
1 |
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artikel |
146 |
"Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density"
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Piedra, María |
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2011 |
12 |
1 |
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artikel |
147 |
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
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Santos, Paulo CJL |
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2011 |
12 |
1 |
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artikel |
148 |
SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case
|
Frigerio, Marcello |
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2011 |
12 |
1 |
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artikel |
149 |
Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes
|
Gjesing, Anette P |
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2011 |
12 |
1 |
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artikel |
150 |
Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism and coronary heart disease
|
Williams, Paul |
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2011 |
12 |
1 |
|
artikel |
151 |
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation
|
Mutai, Hideki |
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2011 |
12 |
1 |
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artikel |
152 |
Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
|
Niittymäki, Iina |
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2011 |
12 |
1 |
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artikel |
153 |
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation
|
Bygum, Anette |
|
2011 |
12 |
1 |
|
artikel |
154 |
Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
|
Lopez Jimenez, Nelson |
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2011 |
12 |
1 |
|
artikel |
155 |
TCF7L2 and therapeutic response to sulfonylureas in patients with type 2 diabetes
|
Holstein, Andreas |
|
2011 |
12 |
1 |
|
artikel |
156 |
Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans
|
Myles, Sean |
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2011 |
12 |
1 |
|
artikel |
157 |
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients
|
Schreiber, Roberto |
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2011 |
12 |
1 |
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artikel |
158 |
The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)
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Yun, Jisuk |
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2011 |
12 |
1 |
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artikel |
159 |
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain
|
Metzger, Brigitte |
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2011 |
12 |
1 |
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artikel |
160 |
The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme gene and cancer risk: a meta-analysis
|
Zhang, Yonggang |
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2011 |
12 |
1 |
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artikel |
161 |
The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load
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Hornbak, Malene |
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2011 |
12 |
1 |
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artikel |
162 |
The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer
|
Chen, Tao |
|
2011 |
12 |
1 |
|
artikel |
163 |
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population
|
Stegel, Vida |
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2011 |
12 |
1 |
|
artikel |
164 |
The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes
|
Nielsen, Lotte B |
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2011 |
12 |
1 |
|
artikel |
165 |
The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers
|
Tulah, Asif S |
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2011 |
12 |
1 |
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artikel |
166 |
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study
|
Chappell, Sally L |
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2011 |
12 |
1 |
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artikel |
167 |
The role of the fat mass and obesity associated gene (FTO) in breast cancer risk
|
Kaklamani, Virginia |
|
2011 |
12 |
1 |
|
artikel |
168 |
TNFA-863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study
|
Córdoba-Lanús, Elizabeth |
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2011 |
12 |
1 |
|
artikel |
169 |
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach
|
Hanchard, Neil A |
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2011 |
12 |
1 |
|
artikel |
170 |
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
|
Riazuddin, Saima |
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2011 |
12 |
1 |
|
artikel |
171 |
Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US
|
Been, Latonya F |
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2011 |
12 |
1 |
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artikel |
172 |
Variation in Uteroglobin-Related Protein 1 (UGRP1) gene is associated with Allergic Rhinitis in Singapore Chinese
|
Andiappan, Anand Kumar |
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2011 |
12 |
1 |
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artikel |
173 |
Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population
|
Li, Fei |
|
2011 |
12 |
1 |
|
artikel |
174 |
Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis
|
Winkel, Bo G |
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2011 |
12 |
1 |
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artikel |