| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A cryptic full mutation in a male with a classical Fragile X phenotype
|
MacKenzie, JJ
|
|
2006
|
|
1 |
p. 39-42
|
artikel
|
| 2 |
Adams–Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes
|
Verdyck, P
|
|
2006
|
|
1 |
p. 86-92
|
artikel
|
| 3 |
Altered gene silencing and human diseases
|
Perini, G
|
|
2006
|
|
1 |
p. 1-7
|
artikel
|
| 4 |
Announcement
|
|
|
2006
|
|
1 |
p. 88-89
|
artikel
|
| 5 |
A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott–Rallison syndrome
|
Durocher, F
|
|
2006
|
|
1 |
p. 34-38
|
artikel
|
| 6 |
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
|
Abidi, FE
|
|
2007
|
|
1 |
p. 19-22
|
artikel
|
| 7 |
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred
|
Clarke, JC
|
|
2006
|
|
1 |
p. 63-67
|
artikel
|
| 8 |
Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 −455T>C polymorphisms on the susceptibility to diabetic nephropathy
|
Ng, MCY
|
|
2006
|
|
1 |
p. 20-28
|
artikel
|
| 9 |
CD36 expression and its relationship with obesity in blood cells from people with and without Prader–Willi syndrome
|
Webb, T
|
|
2006
|
|
1 |
p. 26-32
|
artikel
|
| 10 |
Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease
|
|
|
2006
|
|
1 |
p. 78-79
|
artikel
|
| 11 |
Clinical and genetic variability of oculodentodigital dysplasia
|
|
|
2006
|
|
1 |
p. 71-72
|
artikel
|
| 12 |
Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
|
Di Pierro, E
|
|
2007
|
|
1 |
p. 84-88
|
artikel
|
| 13 |
Cognition genes on autosomes: the paradox
|
Willems, PJ
|
|
2007
|
|
1 |
p. 9-12
|
artikel
|
| 14 |
Commentary on Duncan and Delatycki, ‘Predictive genetic testing in young people for adult onset conditions: where is the empiric evidence?
|
Clarke, A
|
|
2006
|
|
1 |
p. 17-20
|
artikel
|
| 15 |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations
|
|
|
2007
|
|
1 |
p. 63-65
|
artikel
|
| 16 |
Corrigendum
|
|
|
2007
|
|
1 |
p. 99
|
artikel
|
| 17 |
Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing
|
|
|
2006
|
|
1 |
p. 80-82
|
artikel
|
| 18 |
Detection of human chromosomal abnormalities using a new technique combining 4′,6-diamidino-2-phenyl-indole staining and image analysis
|
Liu, JY
|
|
2006
|
|
1 |
p. 65-71
|
artikel
|
| 19 |
Development of cortical GABAergic circuits and its implications for neurodevelopmental disorders
|
Di Cristo, G
|
|
2007
|
|
1 |
p. 1-8
|
artikel
|
| 20 |
Diagnosis and management of early- and late-onset cerebellar ataxia
|
Brusse, E
|
|
2007
|
|
1 |
p. 12-24
|
artikel
|
| 21 |
Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up
|
Narzi, L
|
|
2007
|
|
1 |
p. 39-46
|
artikel
|
| 22 |
Early lethal autosomal recessive enterocolitis: report of a second family
|
|
|
2007
|
|
1 |
p. 89-90
|
artikel
|
| 23 |
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis
|
|
|
2007
|
|
1 |
p. 91-92
|
artikel
|
| 24 |
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation
|
|
|
2007
|
|
1 |
p. 59-62
|
artikel
|
| 25 |
Executive functioning in children and adolescents with phenylketonuria
|
VanZutphen, KH
|
|
2007
|
|
1 |
p. 13-18
|
artikel
|
| 26 |
Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study
|
van Oostrom, I
|
|
2007
|
|
1 |
p. 35-42
|
artikel
|
| 27 |
Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent
|
|
|
2006
|
|
1 |
p. 86-87
|
artikel
|
| 28 |
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers
|
|
|
2006
|
|
1 |
p. 68-70
|
artikel
|
| 29 |
Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non-Hispanic Caucasian women
|
Zhang, C
|
|
2006
|
|
1 |
p. 33-39
|
artikel
|
| 30 |
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
|
Cavicchi, C
|
|
2006
|
|
1 |
p. 72-76
|
artikel
|
| 31 |
Genetic association between endothelial nitric oxide synthase and Alzheimer disease
|
Akomolafe, A
|
|
2006
|
|
1 |
p. 49-56
|
artikel
|
| 32 |
Genetic counseling for mental illness: goals resemble counseling goals for other common conditions
|
|
|
2006
|
|
1 |
p. 93-94
|
artikel
|
| 33 |
Genetic knowledge among participants of a German pilot study on hemochromatosis screening
|
|
|
2006
|
|
1 |
p. 73-77
|
artikel
|
| 34 |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)
|
Kurzawski, G
|
|
2006
|
|
1 |
p. 40-47
|
artikel
|
| 35 |
Gonadal mosaicism in hereditary angioedema
|
|
|
2006
|
|
1 |
p. 83-85
|
artikel
|
| 36 |
Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms
|
Gagné, G
|
|
2007
|
|
1 |
p. 46-58
|
artikel
|
| 37 |
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1
|
|
|
2007
|
|
1 |
p. 93-94
|
artikel
|
| 38 |
Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study
|
Barton, JC
|
|
2006
|
|
1 |
p. 48-57
|
artikel
|
| 39 |
In search of a familial cancer risk assessment tool
|
Kelly, KM
|
|
2007
|
|
1 |
p. 76-83
|
artikel
|
| 40 |
Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases
|
Stemkens, D
|
|
2006
|
|
1 |
p. 43-48
|
artikel
|
| 41 |
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF
|
Schneider, M
|
|
2007
|
|
1 |
p. 30-38
|
artikel
|
| 42 |
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32
|
Wali, A
|
|
2007
|
|
1 |
p. 23-29
|
artikel
|
| 43 |
Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders
|
Lopez-Rangel, E
|
|
2006
|
|
1 |
p. 21-22
|
artikel
|
| 44 |
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
|
Nectoux, J
|
|
2006
|
|
1 |
p. 29-33
|
artikel
|
| 45 |
Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies
|
Jezela-Stanek, A
|
|
2006
|
|
1 |
p. 77-85
|
artikel
|
| 46 |
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
|
Rooms, L
|
|
2006
|
|
1 |
p. 58-64
|
artikel
|
| 47 |
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome
|
Badens, C
|
|
2006
|
|
1 |
p. 57-62
|
artikel
|
| 48 |
Neurofibromin: a general outlook
|
Trovó-Marqui, AB
|
|
2006
|
|
1 |
p. 1-13
|
artikel
|
| 49 |
Note
|
|
|
2006
|
|
1 |
p. 90
|
artikel
|
| 50 |
Overlapping clinical phenotypes: the road to identifying dysmorphology signalling pathways and their associated risks
|
Lopez-Rangel, E
|
|
2007
|
|
1 |
p. 43-44
|
artikel
|
| 51 |
Pharmacogenetics of antidepressants: serotonin 2A receptor genotype strongly associated with treatment outcome
|
MacDonald, MLE
|
|
2006
|
|
1 |
p. 14-15
|
artikel
|
| 52 |
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome
|
Girirajan, S
|
|
2007
|
|
1 |
p. 47-58
|
artikel
|
| 53 |
Predictive genetic testing in young people for adult-onset conditions: Where is the empirical evidence?
|
Duncan, RE
|
|
2006
|
|
1 |
p. 8-16
|
artikel
|
| 54 |
Prevalence of C282Y, H63D and S65C mutations of the hemochromatosis (HFE) gene in a population from southeastern Spain (Murcia Region)
|
|
|
2007
|
|
1 |
p. 97-98
|
artikel
|
| 55 |
Six novel mutations in the GCK gene in MODY patients
|
|
|
2007
|
|
1 |
p. 95-96
|
artikel
|
| 56 |
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy
|
Laberge, L
|
|
2007
|
|
1 |
p. 59-66
|
artikel
|
| 57 |
The genetics of hydatidiform moles: new lights on an ancient disease
|
Slim, R.
|
|
2007
|
|
1 |
p. 25-34
|
artikel
|
| 58 |
The modular nature of genetic diseases
|
Oti, M
|
|
2007
|
|
1 |
p. 1-11
|
artikel
|
| 59 |
The neoplastic risk in children with Noonan syndrome and Costello syndrome
|
Lopez-Rangel, E
|
|
2007
|
|
1 |
p. 44-45
|
artikel
|
| 60 |
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
|
Leipoldt, M
|
|
2007
|
|
1 |
p. 67-75
|
artikel
|
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