| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD)
|
Arning, Larissa
|
|
2005
|
6 |
1 |
|
artikel
|
| 2 |
Aging syndrome genes and premature coronary artery disease
|
Low, Adrian F
|
|
2005
|
6 |
1 |
|
artikel
|
| 3 |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
|
Calado, Joaquim
|
|
2005
|
6 |
1 |
|
artikel
|
| 4 |
Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility
|
Curtain, Robert
|
|
2005
|
6 |
1 |
|
artikel
|
| 5 |
Association between a variation in the phosphodiesterase 4D gene and bone mineral density
|
Reneland, Richard H
|
|
2005
|
6 |
1 |
|
artikel
|
| 6 |
Association study of functional genetic variants of innate immunity related genes in celiac disease
|
Rueda, B
|
|
2005
|
6 |
1 |
|
artikel
|
| 7 |
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report
|
Shah, Maulik
|
|
2005
|
6 |
1 |
|
artikel
|
| 8 |
Cell cycle and centromere FISH studies in premature centromere division
|
Corona-Rivera, Alfredo
|
|
2005
|
6 |
1 |
|
artikel
|
| 9 |
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
|
Hannila-Handelberg, Tuula
|
|
2005
|
6 |
1 |
|
artikel
|
| 10 |
CYP3A4 and CYP3A5 genotyping by Pyrosequencing
|
Garsa, Adam A
|
|
2005
|
6 |
1 |
|
artikel
|
| 11 |
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
|
Reddy, Kavita S
|
|
2005
|
6 |
1 |
|
artikel
|
| 12 |
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
|
Damgaard, Dorte
|
|
2005
|
6 |
1 |
|
artikel
|
| 13 |
Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene
|
Crawford, Nigel PS
|
|
2005
|
6 |
1 |
|
artikel
|
| 14 |
Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease
|
Hoffjan, Sabine
|
|
2005
|
6 |
1 |
|
artikel
|
| 15 |
Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
|
Zakharova, Faina M
|
|
2005
|
6 |
1 |
|
artikel
|
| 16 |
First molecular screening of deafness in the Altai Republic population
|
Posukh, Olga
|
|
2005
|
6 |
1 |
|
artikel
|
| 17 |
Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
|
Bento, Jennifer L
|
|
2005
|
6 |
1 |
|
artikel
|
| 18 |
Genetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study
|
Bakker, Mirjam I
|
|
2005
|
6 |
1 |
|
artikel
|
| 19 |
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
|
McCauley, Jacob L
|
|
2005
|
6 |
1 |
|
artikel
|
| 20 |
Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes
|
Latimer, Jean J
|
|
2005
|
6 |
1 |
|
artikel
|
| 21 |
High frequency of the IVS2-2A<G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss
|
Tang, Hsiao-Yuan
|
|
2005
|
6 |
1 |
|
artikel
|
| 22 |
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
|
Scotet, Virginie
|
|
2005
|
6 |
1 |
|
artikel
|
| 23 |
Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population
|
Ghoussaini, Maya
|
|
2005
|
6 |
1 |
|
artikel
|
| 24 |
Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans
|
Karim, Mohammad A
|
|
2005
|
6 |
1 |
|
artikel
|
| 25 |
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
|
Schüle, Birgitt
|
|
2005
|
6 |
1 |
|
artikel
|
| 26 |
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
|
Muncke, Nadja
|
|
2005
|
6 |
1 |
|
artikel
|
| 27 |
Neural progenitor cells from an adult patient with fragile X syndrome
|
Schwartz, Philip H
|
|
2005
|
6 |
1 |
|
artikel
|
| 28 |
No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study
|
Brookes, Keeley-Joanne
|
|
2005
|
6 |
1 |
|
artikel
|
| 29 |
Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan
|
Lai, Te-Jen
|
|
2005
|
6 |
1 |
|
artikel
|
| 30 |
Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population
|
Schnakenberg, Eckart
|
|
2005
|
6 |
1 |
|
artikel
|
| 31 |
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians
|
Dolan, Ciara
|
|
2005
|
6 |
1 |
|
artikel
|
| 32 |
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes
|
Graziano, Claudio
|
|
2005
|
6 |
1 |
|
artikel
|
| 33 |
SMN1 dosage analysis in spinal muscular atrophy from India
|
Kesari, Akanchha
|
|
2005
|
6 |
1 |
|
artikel
|
| 34 |
SNP genotyping to screen for a common deletion in CHARGE Syndrome
|
Lalani, Seema R
|
|
2005
|
6 |
1 |
|
artikel
|
| 35 |
Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
|
Zühlke, Christine
|
|
2005
|
6 |
1 |
|
artikel
|
| 36 |
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
|
Sogaard, Marie
|
|
2005
|
6 |
1 |
|
artikel
|
| 37 |
The Familial Intracranial Aneurysm (FIA) study protocol
|
Broderick, Joseph P
|
|
2005
|
6 |
1 |
|
artikel
|
| 38 |
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
|
Ma, Shaochun
|
|
2005
|
6 |
1 |
|
artikel
|
| 39 |
The host response to the probiotic Escherichia coli strain Nissle 1917: Specific up-regulation of the proinflammatory chemokine MCP-1
|
Ukena, Sya N
|
|
2005
|
6 |
1 |
|
artikel
|
| 40 |
Theories of schizophrenia: a genetic-inflammatory-vascular synthesis
|
Hanson, Daniel R
|
|
2005
|
6 |
1 |
|
artikel
|
| 41 |
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
|
Bayley, Jean-Pierre
|
|
2005
|
6 |
1 |
|
artikel
|
| 42 |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Chen, Chun-An
|
|
2005
|
6 |
1 |
|
artikel
|
| 43 |
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
|
Stepp, Monica L
|
|
2005
|
6 |
1 |
|
artikel
|
Tijdschrift beschrijving