| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
|
Wang, Q-J
|
|
2007
|
|
3 |
p. 245-254
|
artikel
|
| 2 |
A family with lymphoedema-distichiasis where identical twins have a discordant phenotype
|
|
|
2007
|
|
3 |
p. 285-287
|
artikel
|
| 3 |
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability
|
Marroni, F
|
|
2006
|
|
3 |
p. 254-262
|
artikel
|
| 4 |
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3
|
Uyguner, O
|
|
2007
|
|
3 |
p. 212-219
|
artikel
|
| 5 |
A novel homozygous MMP2 mutation in a family with Winchester syndrome
|
Rouzier, C
|
|
2006
|
|
3 |
p. 271-276
|
artikel
|
| 6 |
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31
|
Wali, A
|
|
2006
|
|
3 |
p. 233-239
|
artikel
|
| 7 |
Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations
|
Austin, JC
|
|
2006
|
|
3 |
p. 177-187
|
artikel
|
| 8 |
A questionnaire study for 128 patients with Gaucher disease
|
Mankin, HJ
|
|
2006
|
|
3 |
p. 209-217
|
artikel
|
| 9 |
Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost-consequences analysis
|
Newman, WG
|
|
2007
|
|
3 |
p. 254-259
|
artikel
|
| 10 |
Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study
|
Choquette, AC
|
|
2007
|
|
3 |
p. 245-253
|
artikel
|
| 11 |
Caps off: Dkc1 makes the IRESes bloom!
|
Orban, PC
|
|
2006
|
|
3 |
p. 195-197
|
artikel
|
| 12 |
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
|
Stevenson, DA
|
|
2006
|
|
3 |
p. 246-253
|
artikel
|
| 13 |
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
|
Shashi, V
|
|
2006
|
|
3 |
p. 234-238
|
artikel
|
| 14 |
Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels
|
Boekholdt, SM
|
|
2006
|
|
3 |
p. 263-270
|
artikel
|
| 15 |
Comparative transcriptome maps: a new approach to the diagnosis of colorectal carcinoma patients using cDNA microarrays
|
Jansová, E
|
|
2006
|
|
3 |
p. 218-227
|
artikel
|
| 16 |
Corrigendum
|
|
|
2007
|
|
3 |
p. 293
|
artikel
|
| 17 |
Cryptic mosaicism for monosomy 20 identified in renal tract cells
|
Stefanou, E-G
|
|
2006
|
|
3 |
p. 228-232
|
artikel
|
| 18 |
CYLD mutations underlie Brooke–Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes
|
Young, AL
|
|
2006
|
|
3 |
p. 246-249
|
artikel
|
| 19 |
CYR61 polymorphisms are associated with plasma HDL-cholesterol levels in obese individuals
|
Bouchard, L
|
|
2007
|
|
3 |
p. 224-229
|
artikel
|
| 20 |
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles
|
Faucz, FR
|
|
2007
|
|
3 |
p. 218-223
|
artikel
|
| 21 |
Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom
|
|
|
2007
|
|
3 |
p. 290-292
|
artikel
|
| 22 |
Detection of copy number changes at the NF1 locus with improved high-resolution array CGH
|
Shen, MH
|
|
2007
|
|
3 |
p. 238-244
|
artikel
|
| 23 |
Development and testing of a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation
|
Metcalfe, KA
|
|
2007
|
|
3 |
p. 208-217
|
artikel
|
| 24 |
Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis
|
Finelli, P
|
|
2007
|
|
3 |
p. 195-204
|
artikel
|
| 25 |
Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson’s disease
|
|
|
2007
|
|
3 |
p. 264-267
|
artikel
|
| 26 |
E-cadherin promoter polymorphism (C-160A) and risk of recurrence in patients with superficial bladder cancer
|
Lin, J
|
|
2006
|
|
3 |
p. 240-245
|
artikel
|
| 27 |
Expanding the phenotypic spectrum of Caffey disease
|
Suphapeetiporn, K
|
|
2007
|
|
3 |
p. 280-284
|
artikel
|
| 28 |
Freeman–Sheldon syndrome and Sheldon–Hall syndrome: contracting new genotypes
|
Wagner, LA
|
|
2006
|
|
3 |
p. 192-193
|
artikel
|
| 29 |
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC
|
Roncari, B
|
|
2007
|
|
3 |
p. 230-237
|
artikel
|
| 30 |
Frequency of hemochromatosis gene (HFE) mutations in Corsica (France)
|
|
|
2007
|
|
3 |
p. 268-270
|
artikel
|
| 31 |
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia–Ecuador
|
Bernal, JE
|
|
2006
|
|
3 |
p. 188-191
|
artikel
|
| 32 |
Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice
|
Pullman, D.
|
|
2006
|
|
3 |
p. 199-203
|
artikel
|
| 33 |
Genetics of autosomal recessive non-syndromic mental retardation: recent advances
|
Basel-Vanagaite, L
|
|
2007
|
|
3 |
p. 167-174
|
artikel
|
| 34 |
Hemochromatosis gene mutations in patients with alcoholic cirrhosis
|
|
|
2006
|
|
3 |
p. 257-259
|
artikel
|
| 35 |
High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1
|
Rouleau, E
|
|
2007
|
|
3 |
p. 199-207
|
artikel
|
| 36 |
HMLH1 and HMSH2 germline mutations in Greek families with hereditary non-polyposis colorectal cancer
|
|
|
2006
|
|
3 |
p. 290-293
|
artikel
|
| 37 |
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
|
Santamaria, R
|
|
2007
|
|
3 |
p. 273-279
|
artikel
|
| 38 |
Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population
|
Saeed, M
|
|
2007
|
|
3 |
p. 238-244
|
artikel
|
| 39 |
Interstitial deletions of chromosome 6q: genotype–phenotype correlation utilizing array CGH
|
Klein, OD
|
|
2007
|
|
3 |
p. 260-266
|
artikel
|
| 40 |
Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration
|
|
|
2006
|
|
3 |
p. 250-252
|
artikel
|
| 41 |
Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation
|
Bombard, Y
|
|
2007
|
|
3 |
p. 220-231
|
artikel
|
| 42 |
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2
|
Cho, H-J
|
|
2007
|
|
3 |
p. 267-272
|
artikel
|
| 43 |
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer
|
Valle, L
|
|
2007
|
|
3 |
p. 232-237
|
artikel
|
| 44 |
MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation
|
Palomares, M
|
|
2006
|
|
3 |
p. 228-233
|
artikel
|
| 45 |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia
|
Brusgaard, K
|
|
2006
|
|
3 |
p. 277-283
|
artikel
|
| 46 |
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter
|
Reboul, M-P
|
|
2006
|
|
3 |
p. 207-213
|
artikel
|
| 47 |
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations
|
Wehner, L-E
|
|
2006
|
|
3 |
p. 239-245
|
artikel
|
| 48 |
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1
|
|
|
2006
|
|
3 |
p. 253-256
|
artikel
|
| 49 |
New insights into autism from a comprehensive genetic map
|
Katzov, H
|
|
2007
|
|
3 |
p. 186-187
|
artikel
|
| 50 |
Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria
|
|
|
2006
|
|
3 |
p. 284-286
|
artikel
|
| 51 |
Note
|
|
|
2006
|
|
3 |
p. 260
|
artikel
|
| 52 |
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families
|
|
|
2007
|
|
3 |
p. 261-263
|
artikel
|
| 53 |
Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency
|
Drouin, J
|
|
2007
|
|
3 |
p. 175-182
|
artikel
|
| 54 |
Pregnancy-associated plasma protein A, free human chorionic gonadotrophin and nuchal translucency as predictors of miscarriage
|
|
|
2006
|
|
3 |
p. 287-289
|
artikel
|
| 55 |
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
|
Dimasi, DP
|
|
2007
|
|
3 |
p. 255-260
|
artikel
|
| 56 |
Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study
|
Phillips, K-A
|
|
2006
|
|
3 |
p. 198-206
|
artikel
|
| 57 |
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases
|
|
|
2007
|
|
3 |
p. 288-289
|
artikel
|
| 58 |
SORL1 adds another piece to the complex puzzle of Alzheimer disease genetics
|
Katzov, H
|
|
2007
|
|
3 |
p. 183-184
|
artikel
|
| 59 |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
|
Millat, G
|
|
2006
|
|
3 |
p. 214-227
|
artikel
|
| 60 |
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation
|
|
|
2006
|
|
3 |
p. 294-296
|
artikel
|
| 61 |
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
|
Charrow, J
|
|
2007
|
|
3 |
p. 205-211
|
artikel
|
| 62 |
Transglutaminase 5 mutations result in Acral Peeling Skin Syndrome.
|
Coburn, B
|
|
2006
|
|
3 |
p. 204-205
|
artikel
|
| 63 |
Unraveling intrinsic genetic factors in type 2 diabetes
|
Katzov, H
|
|
2007
|
|
3 |
p. 184-185
|
artikel
|
| 64 |
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
|
De Backer, J
|
|
2007
|
|
3 |
p. 188-198
|
artikel
|
| 65 |
When bone becomes your enemy: fibrodysplasia ossificans progressiva
|
Timmerman, MK
|
|
2006
|
|
3 |
p. 193-195
|
artikel
|
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