| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
|
Kumar, Ravinesh A
|
|
2007
|
8 |
1 |
|
artikel
|
| 2 |
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort
|
Lee, Sulggi A
|
|
2007
|
8 |
1 |
|
artikel
|
| 3 |
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
|
Chandler, Randy J
|
|
2007
|
8 |
1 |
|
artikel
|
| 4 |
Analysis of KLF transcription factor family gene variants in type 2 diabetes
|
Gutiérrez-Aguilar, Ruth
|
|
2007
|
8 |
1 |
|
artikel
|
| 5 |
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
|
Torres-Juan, Laura
|
|
2007
|
8 |
1 |
|
artikel
|
| 6 |
Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents
|
Hölter, Katja
|
|
2007
|
8 |
1 |
|
artikel
|
| 7 |
A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family
|
Zhang, Xianqin
|
|
2007
|
8 |
1 |
|
artikel
|
| 8 |
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment
|
Tsai, Hsun-Tien
|
|
2007
|
8 |
1 |
|
artikel
|
| 9 |
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
|
Tang, Shaohua
|
|
2007
|
8 |
1 |
|
artikel
|
| 10 |
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
|
Aartsma-Rus, Annemieke
|
|
2007
|
8 |
1 |
|
artikel
|
| 11 |
Association analysis of chromosome 1 migraine candidate genes
|
Fernandez, Francesca
|
|
2007
|
8 |
1 |
|
artikel
|
| 12 |
Association between CFL1 gene polymorphisms and spina bifida risk in a California population
|
Zhu, Huiping
|
|
2007
|
8 |
1 |
|
artikel
|
| 13 |
Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample
|
Pollex, Rebecca L
|
|
2007
|
8 |
1 |
|
artikel
|
| 14 |
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
|
Philippi, Anne
|
|
2007
|
8 |
1 |
|
artikel
|
| 15 |
Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians
|
Prasad, Pushplata
|
|
2007
|
8 |
1 |
|
artikel
|
| 16 |
CADASIL in Arabs: clinical and genetic findings
|
Bohlega, Saeed
|
|
2007
|
8 |
1 |
|
artikel
|
| 17 |
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
|
Sáez, María E
|
|
2007
|
8 |
1 |
|
artikel
|
| 18 |
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
|
Sacco, Roberto
|
|
2007
|
8 |
1 |
|
artikel
|
| 19 |
CD209 in inflammatory bowel disease: a case-control study in the Spanish population
|
Núñez, Concepción
|
|
2007
|
8 |
1 |
|
artikel
|
| 20 |
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
|
Jordan, ChaRandle
|
|
2007
|
8 |
1 |
|
artikel
|
| 21 |
Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma
|
Mahid, Suhal S
|
|
2007
|
8 |
1 |
|
artikel
|
| 22 |
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
|
Nielsen, Maartje
|
|
2007
|
8 |
1 |
|
artikel
|
| 23 |
CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden
|
Mayans, Sofia
|
|
2007
|
8 |
1 |
|
artikel
|
| 24 |
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
|
Ahn, Joo Wook
|
|
2007
|
8 |
1 |
|
artikel
|
| 25 |
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
|
Bi, Lilia L
|
|
2007
|
8 |
1 |
|
artikel
|
| 26 |
Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage
|
Shadrina, Maria I
|
|
2007
|
8 |
1 |
|
artikel
|
| 27 |
Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations
|
Ruixing, Yin
|
|
2007
|
8 |
1 |
|
artikel
|
| 28 |
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
|
Gosso, Florencia M
|
|
2007
|
8 |
1 |
|
artikel
|
| 29 |
Functional analysis of splicing mutations in exon 7 of NF1 gene
|
Bottillo, Irene
|
|
2007
|
8 |
1 |
|
artikel
|
| 30 |
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease
|
Cavallari, Ugo
|
|
2007
|
8 |
1 |
|
artikel
|
| 31 |
Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats
|
Silva, Gustavo JJ
|
|
2007
|
8 |
1 |
|
artikel
|
| 32 |
Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population
|
Meng, Weihua
|
|
2007
|
8 |
1 |
|
artikel
|
| 33 |
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
|
Vasickova, Petra
|
|
2007
|
8 |
1 |
|
artikel
|
| 34 |
Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study
|
Nilsson, Maria
|
|
2007
|
8 |
1 |
|
artikel
|
| 35 |
Incorporating medical interventions into carrier probability estimation for genetic counseling
|
Katki, Hormuzd A
|
|
2007
|
8 |
1 |
|
artikel
|
| 36 |
Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension
|
Kardia, Sharon LR
|
|
2007
|
8 |
1 |
|
artikel
|
| 37 |
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis
|
Lindner, Ewald
|
|
2007
|
8 |
1 |
|
artikel
|
| 38 |
Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging
|
Chu, Michelle W
|
|
2007
|
8 |
1 |
|
artikel
|
| 39 |
Large genomic rearrangements in the CFTR gene contribute to CBAVD
|
Taulan, Magali
|
|
2007
|
8 |
1 |
|
artikel
|
| 40 |
Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma
|
Cotignola, Javier
|
|
2007
|
8 |
1 |
|
artikel
|
| 41 |
Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene
|
Del Mastro, Richard G
|
|
2007
|
8 |
1 |
|
artikel
|
| 42 |
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
|
Chandler, Randy J
|
|
2007
|
8 |
1 |
|
artikel
|
| 43 |
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
|
Beffagna, Giorgia
|
|
2007
|
8 |
1 |
|
artikel
|
| 44 |
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
|
Ballana, Ester
|
|
2007
|
8 |
1 |
|
artikel
|
| 45 |
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
|
Laperuta, Carmela
|
|
2007
|
8 |
1 |
|
artikel
|
| 46 |
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families
|
Filippini, Sandra
|
|
2007
|
8 |
1 |
|
artikel
|
| 47 |
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
|
Buxbaum, Joseph D
|
|
2007
|
8 |
1 |
|
artikel
|
| 48 |
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
|
Reamon-Buettner, Stella Marie
|
|
2007
|
8 |
1 |
|
artikel
|
| 49 |
No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease
|
Sánchez-Juan, Pascual
|
|
2007
|
8 |
1 |
|
artikel
|
| 50 |
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects
|
Stekrova, Jitka
|
|
2007
|
8 |
1 |
|
artikel
|
| 51 |
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
|
Miano, Maria Giuseppina
|
|
2007
|
8 |
1 |
|
artikel
|
| 52 |
PediDraw: A web-based tool for drawing a pedigree in genetic counseling
|
He, Min
|
|
2007
|
8 |
1 |
|
artikel
|
| 53 |
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina
|
Gomez, Laura C
|
|
2007
|
8 |
1 |
|
artikel
|
| 54 |
PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males
|
Uthurralt, Julieta
|
|
2007
|
8 |
1 |
|
artikel
|
| 55 |
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
|
Cukjati, Marko
|
|
2007
|
8 |
1 |
|
artikel
|
| 56 |
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly
|
Hassan, Muhammad Jawad
|
|
2007
|
8 |
1 |
|
artikel
|
| 57 |
Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age
|
Franco, Erica
|
|
2007
|
8 |
1 |
|
artikel
|
| 58 |
Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy
|
McKnight, Amy Jayne
|
|
2007
|
8 |
1 |
|
artikel
|
| 59 |
Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1
|
Kepp, Katrin
|
|
2007
|
8 |
1 |
|
artikel
|
| 60 |
Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes
|
Pettigrew, Melinda M
|
|
2007
|
8 |
1 |
|
artikel
|
| 61 |
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis
|
Brockington, Alice
|
|
2007
|
8 |
1 |
|
artikel
|
| 62 |
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
|
Bouatia-Naji, Nabila
|
|
2007
|
8 |
1 |
|
artikel
|
| 63 |
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype
|
Kim, Kyung-Seon
|
|
2007
|
8 |
1 |
|
artikel
|
| 64 |
SOD2 polymorphisms: unmasking the effect of polymorphism on splicing
|
Shao, Jing
|
|
2007
|
8 |
1 |
|
artikel
|
| 65 |
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol
|
Dastani, Zari
|
|
2007
|
8 |
1 |
|
artikel
|
| 66 |
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes
|
Kaushal, Ritesh
|
|
2007
|
8 |
1 |
|
artikel
|
| 67 |
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
|
Santiago, Jose Luis
|
|
2007
|
8 |
1 |
|
artikel
|
| 68 |
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
|
Malik, Sajid
|
|
2007
|
8 |
1 |
|
artikel
|
| 69 |
TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population
|
Cauchi, Stéphane
|
|
2007
|
8 |
1 |
|
artikel
|
| 70 |
The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes
|
Cooper, Jason D
|
|
2007
|
8 |
1 |
|
artikel
|
| 71 |
The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia
|
Evans, David
|
|
2007
|
8 |
1 |
|
artikel
|
| 72 |
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile
|
Pasdar, Alireza
|
|
2007
|
8 |
1 |
|
artikel
|
| 73 |
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
|
Rossi, Monica
|
|
2007
|
8 |
1 |
|
artikel
|
| 74 |
The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol
|
Tang, Xun
|
|
2007
|
8 |
1 |
|
artikel
|
| 75 |
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?
|
Jaquish, Cashell E
|
|
2007
|
8 |
1 |
|
artikel
|
| 76 |
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
|
Pattaro, Cristian
|
|
2007
|
8 |
1 |
|
artikel
|
| 77 |
The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study
|
Hagen, Knut
|
|
2007
|
8 |
1 |
|
artikel
|
| 78 |
The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
|
Abu-Amero, Khaled K
|
|
2007
|
8 |
1 |
|
artikel
|
| 79 |
The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans
|
Grewal, RP
|
|
2007
|
8 |
1 |
|
artikel
|
| 80 |
The TCF7L2 locus and type 1 diabetes
|
Qu, Hui-Qi
|
|
2007
|
8 |
1 |
|
artikel
|
| 81 |
Transient trimethylaminuria related to menstruation
|
Shimizu, Makiko
|
|
2007
|
8 |
1 |
|
artikel
|
| 82 |
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
|
Nishiyama, Atsushi
|
|
2007
|
8 |
1 |
|
artikel
|
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