| Introduction |
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| Provision of genetic services in Europe: current practices and issues |
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| Genetic information and testing in insurance and employment: technical, social and ethical issues |
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| Provision of genetic services in Europe: current practices and issues |
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| Population genetic screening programmes: technical, social and ethical issues |
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| Population genetic screening programmes: principles, techniques, practices, and policies |
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| Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective |
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| Data storage and DNA banking for biomedical research: technical, social and ethical issues |
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| Genetic information and testing in insurance and employment: technical, social and ethical issues |
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| The Genetic Basis of Common Diseases, second edition |
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| Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene |
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| Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies |
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| Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes |
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| Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness – The ECTIM, AXA, EVA and GENIC Studies |
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| mtDNA polymorphisms in five French groups: importance of regional sampling |
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| Prevalence of lysosomal storage diseases in Portugal |
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| Mutations responsible for 3-phosphoserine phosphatase deficiency |
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| Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case–control study |
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| A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases |
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| Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis |
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| Familial Mediterranean fever seems to be not uncommon in Greece |
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| Association of the human adiponectin gene and insulin resistance |
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| Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies |
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| Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation |
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Finnish women |
| Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders |
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| A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer |
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Polish |
| Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum |
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| Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype–phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden |
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| Confidentiality and serious harm in genetics – preserving the confidentiality of one patient and preventing harm to relatives |
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| Author Index to Volume 11 |
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| Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon |
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| Prenatal testing for late-onset neurogenetic diseases |
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| Keyword Index to Volume 11 |
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| Genetic information and testing in insurance and employment: technical, social and ethical issues |
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| Population genetic screening programmes: technical, social and ethical issues |
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| Provision of genetic services in Europe: current practices and issues |
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| Data storage and DNA banking for biomedical research: technical, social and ethical issues |
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| Power of QTL detection using association tests with family controls |
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| Meta and pooled analysis of European coeliac disease data |
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✓ |
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European coeliac disease data |
| Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice |
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| The deleted in colorectal carcinoma (DCC) gene 201 R → G polymorphism: no evidence for genetic association with autoimmune disease |
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| A missense mutation in PAX9 in a family with distinct phenotype of oligodontia |
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| Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms |
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| Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2 |
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| Karyotyping of human synaptonemal complexes by cenM-FISH |
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| An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient |
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| Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy |
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| Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes |
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| Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2 |
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| Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population |
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| Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion |
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| Is the novel SCKL3 at 14q23 the predominant Seckel locus? |
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| No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease |
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| Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder |
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| Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal |
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| In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons |
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| ESHG recommendations on key issues related to the advances in human genetics |
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| MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics |
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| Genome-wide scanning for linkage in Finnish breast cancer families |
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| Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy |
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| Human X-chromosomal lineages in Europe reveal Middle Eastern and Asiatic contacts |
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| Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2 |
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| Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients |
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| Characterisation of the dysferlin skeletal muscle promoter |
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| Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy |
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| Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation |
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| Problems in detecting mosaic DNA methylation in Angelman syndrome |
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| Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis |
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| SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan |
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| Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services |
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| Anticipation in familial intracranial aneurysms in consecutive generations |
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| Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease |
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| DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1 |
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| Parametric and nonparametric genome scan analyses for human handedness |
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| Global survey of haplotype frequencies and linkage disequilibrium at the RET locus |
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| Analysis of the French National Registry of unrelated bone marrow donors, using surnames as a tool for improving geographical localisation of HLA haplotypes |
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| From surnames to the history of Y chromosomes: the Sardinian population as a paradigm |
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| DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22–q21.12 |
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| Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q |
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| Class II neocentromeres: a putative common neocentromere site in band 4q21.2 |
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| Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age |
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| Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin |
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"Asian origin" and "Portuguese families" |
| Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31 |
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| Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the ca |
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Austronesian aboriginal tribe Paiwan of Taiwan |
| X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome |
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| Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese |
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Japanese |
| No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype |
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| Ancient mtDNA analysis and the origin of the Guanches |
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| Recurrent triploidy of maternal origin |
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| Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population |
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✓ |
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South European population |
| A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q |
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| Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype) |
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| The Rapp–Hodgkin syndrome results from mutations of the TP63 gene |
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| Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation |
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| Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation |
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Finnish |
| Genealogy and genes: tracing the founding fathers of Tristan da Cunha |
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| Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy |
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| Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage |
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| Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) |
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| Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? |
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| Novel spastin mutations and their expression analysis in two Italian families |
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| Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation |
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| Parental origin of mutations in sporadic cases of Treacher Collins syndrome |
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| Comment on “The Impact of genotyping error on haplotype reconstruction and frequency estimation” |
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| Reply to letter from T Becker and M Knapp |
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| Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 |
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| Association between Gly241Arg ICAM-1 gene polymorphism and serum sICAM-1 concentration in the Stanislas cohort |
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| Mutation analysis of the Smad3 gene in human osteoarthritis |
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| Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patien |
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| Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population |
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French Canadian population |
| Computer-based recognition of dysmorphic faces |
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| Manic depressive illness in a founder population |
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| Comment on ‘CFTR gene mutations in sarcoidosis’ |
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| A locus for hereditary hypotrichosis localized to human chromosome 18q21.1 |
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| Medical and lay attitudes towards genetic screening and testing in Finland |
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| Multiple primary malignancies in osteosarcoma patients. Incidence and predictive value of osteosarcoma subtype for cancer syndromes related with osteosarcoma |
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| SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6 |
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| Possible consequences of applying guidelines to healthy women with a family history of breast cancer |
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| Genetic information and life insurance: a ‘real’ risk? |
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| Multilocus statistics to uncover epistasis and heterogeneity in complex diseases: revisiting a set of multiple sclerosis data |
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| Genetic variation at the human tissue-type plasminogen activator (tPA) locus: haplotypes and analysis of association to plasma levels of tPA |
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| Indication of linkage and genetic heterogeneity for asthma and atopy on chromosomes 8p and 12q in 107 French EGEA families |
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| Promoter polymorphism influences the effect of dexamethasone on transcriptional activation of the LTC4 synthase gene |
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| Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients |
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| Mutational spectrum of the CTNS gene in Italy |
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| Erratum: Familial Mediterranean fever is no longer a rare disease in Italy |
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| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy |
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| Myotonic Dystrophy – The Facts |
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| Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases |
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| In vitro follicular growth affects oocyte imprinting establishment in mice |
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| CATSPER2, a human autosomal nonsyndromic male infertility gene |
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| Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-α gene and their associations with multiple sclerosis |
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| Y chromosomal heritage of Croatian population and its island isolates |
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Croatian population |
| Erratum: Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients |
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| Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome |
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| Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32 |
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| Genetic linkage and imprinting effects on body mass index in children and young adults |
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| Apolipoprotein B 3′-VNTR polymorphism in Eastern European populations |
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Eastern European populations |
| Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations |
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| Clinical and molecular analysis of nine families with Adams–Oliver syndrome |
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| Independent effects of the −219 G>T and ε2/ε3/ε4 polymorphisms in the apolipoprotein E gene on coronary artery disease: The Southampton Atherosclerosis Study |
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| A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12–q12.1 |
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| Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany |
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| An empirical survey on biobanking of human genetic material and data in six EU countries |
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| CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature |
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| Mutations in PAX1 may be associated with Klippel–Feil syndrome |
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| PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis |
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| Measured haplotype analysis of the aldosterone synthase gene and heart size |
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| Influence of missense mutation and silent mutation of LHβ-subunit gene in Japanese patients with ovulatory disorders |
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| Spatial patterns of cystic fibrosis mutation spectra in European populations |
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| Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin |
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Slavic origin |
| Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion |
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| MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis |
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| Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36 |
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| A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34 |
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| Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease |
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| Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system |
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| DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene |
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| A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families |
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Mediterranean, possibly Jewish |
| Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome |
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| Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies |
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| Disease-associated mutations in conserved residues of ALK-1 kinase domain |
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| PNA on human sperm: a new approach for in situ aneuploidy estimation |
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| Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome |
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| Apparent intrachromosomal exchange on the human Y chromosome explained by population history |
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| Chromosome instability and nibrin protein variants in NBS heterozygotes |
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| Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? |
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| Reduced folate carrier polymorphism (80A→G) and neural tube defects |
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| Finnish and Swedish genotypes and risk of cancer in Sweden |
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| Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes |
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✓ |
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Italian |
| Mitochondrial DNA analysis reveals diverse histories of tribal populations from India |
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| Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia |
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| Microsatellite marker association at chromosome region 2p13 in Finnish patients with preeclampsia and obstetric cholestasis suggests a common risk locus |
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✓ |
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Finnish |
| Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program |
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| ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum |
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| Association of NOD2 with Crohn's Disease in a homogenous Irish population |
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✓ |
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homogenous Irish population |
| A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism |
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| Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 |
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| Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome |
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| Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects |
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| Combined high resolution linkage and association mapping of quantitative trait loci |
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| On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis |
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| Reply: ‘Gain of function’ PRSS1 mutations are rare in ICP |
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| A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP |
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| A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family |
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✓ |
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Italian |
| No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome |
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| Clustering of Crohn's disease within affected sibships |
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| Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1 |
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| Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci |
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| The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted |
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| A candidate region for Asperger syndrome defined by two 17p breakpoints |
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| Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations |
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| Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands |
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| Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis o |
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| Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations |
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| Linkage of aggressive prostate cancer to chromosome 7q31-33 in German prostate cancer families |
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| Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study |
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| Global genetic variation at nine short tandem repeat loci and implications on forensic genetics |
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| The CTLA4 region as a general autoimmunity factor: An extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves |
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| A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1–14q24.3 in large consanguineous kindred from Pakistan |
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| Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment |
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| Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients |
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| Genetic discrimination: Too few data |
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| PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome |
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| A Dictionary of Genetics |
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| Psychological distress in the 5-year period after predictive testing for Huntington's disease |
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| Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes |
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| PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning |
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| Familial Mediterranean fever is no longer a rare disease in Italy |
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| Discovery of old diseases: the molecular approach |
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| A new web-based data mining tool for the identification of candidate genes for human genetic disorders |
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| A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome |
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| Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia |
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| Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies |
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| Erratum: MTHFR C677T and A1298C polymorphisms and mutated sequences occurring in cis |
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