| Subject index |
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| Erratum |
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| Author index |
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| Genes, screens, and means for advancing the diagnosis and anticipatory care of individuals with congenital intellectual disability |
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| What is OnlineEarly? |
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| Genetics of individual differences in bitter taste perception: lessons from the <i>PTC</i> gene |
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| Glyc‐O‐genetics of Walker–Warburg syndrome |
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| Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, <i>GRB10</i> and <i>PEG1/MEST</i>, in a Silver–Russell syndrome patient using methylation‐specific PCR assays |
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| Kabuki syndrome: a review |
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| Hedgehog signaling and congenital malformations |
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| Insulin resistance and obesity‐related factors in Prader–Willi syndrome: Comparison with obese subjects |
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| Identification of novel <i>SLC3A1</i> gene mutations in Spanish cystinuria families and association with clinical phenotypes |
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✓ |
✓ |
Mediterranean Spanish population; East Mediterranean coast of Spain |
| Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis |
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| Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders |
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| Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans |
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| Compound heterozygosity for two non‐synonymous polymorphisms in <i>NPC1L1</i> in a non‐responder to ezetimibe |
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| The potential impact of genetic counseling for mental illness |
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| Multiplex ligation‐dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy |
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| A novel microdeletion syndrome with loss of the <i>MSH2</i> locus and hereditary non‐polyposis colorectal cancer |
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| A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13 |
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| Reproductive epigenetics |
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| Errata |
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| From families to genes and back: can a hemochromatosis gene help treat the anemia of chronic disease? |
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| Molecular diagnosis of hereditary hemochromatosis: application of a newly‐developed reverse‐hybridization assay in the South African population |
|
✓ |
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✓ |
✓ |
African; African-specific; African subjects; South African population |
| Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome |
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| Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder |
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| Psychological impact of genetic testing for hereditary non‐polyposis colorectal cancer |
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| <i>DHCR7</i> mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome |
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✓ |
✓ |
✓ |
Western European populations; ethnic Polish patients |
| Health motivation and emotional vigilance in genetic testing for prostate cancer risk |
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| Chondrodysplasia punctata in siblings and maternal lupus erythematosus |
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| Response to De Vos et al. |
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| Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring |
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| Mutational analysis of the α‐<scp><i>l</i></scp>‐<i>iduronidase</i> gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations |
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| The endless quest for sex determination genes |
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| Erratum |
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| Multiple rare alleles influence a complex trait: the case of HDL cholesterol |
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| The Hunter–McAlpine syndrome results from duplication 5q35–qter |
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| Erratum |
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| Scanning the genetic contributors of schizophrenia and bipolar disorder |
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| Detection of RAG mutations and prenatal diagnosis in families presenting with either T–B– severe combined immunodeficiency or Omenn's syndrome |
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| Low frequency of myocilin mutations in Indian primary open‐angle glaucoma patients |
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| The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects |
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✓ |
✓ |
Ashkenazi Jewish; Mediterranean descents; pan-ethnic |
| Announcement |
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| Evidence for single origins of 35delG and delE120 mutations in the <i>GJB2</i> gene in Anatolia |
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✓ |
✓ |
Turkish; Egypt; Turkic populations of the Near East; Anatolia |
| Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia |
|
✓ |
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| FMR1 alleles in Tasmania: a screening study of the special educational needs population |
|
✓ |
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✓ |
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| Autosomal dominant B‐cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family |
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| Mutation screening of <i>USH3</i> gene (<i>clarin‐1</i>) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability |
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| Small <i>de novo</i> duplication in the repeat region of the TATA‐box‐binding protein gene manifest with a phenotype similar to variant Creutzfeldt‐Jakob disease |
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| Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of <i>OPA1</i> |
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| PMS2 mutations in HNPCC |
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| Fine mapping of the X‐linked split‐hand/split‐foot malformation (SHFM2) locus to a 5.1‐Mb region on Xq26.3 and analysis of candidate genes |
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| Psychiatric and neuropsychological characterization of Pallister‐Hall syndrome |
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| Erratum |
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| The hunt for BRCA2 interactors scores a big hit: EMSY as a prognostic tool for sporadic breast cancer |
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| Pyruvate kinase deficiency: providing protection from <i>Plasmodium</i> parasitism |
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| Simplifying the complex genetics of schizophrenia |
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| The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy |
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| Current clinical selection strategies for identification of hereditary non‐polyposis colorectal cancer families are inadequate: a meta‐analysis |
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| Utilization of prenatal genetic testing by Israeli Moslem women: a national survey |
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| Cascade genetic screening for familial hypercholesterolemia |
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| ‘It's (not) only teeth’ |
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| Erratum |
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| Allelic heterogeneity of Crigler–Najjar type I syndrome: a study of 24 cases |
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| Low prevalence of Connexin 26 (<i>GJB2</i>) variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment |
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| A dramatic case of early‐onset familial adenomatous polyposis |
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| Melding mind and matter in gene expression studies of the human brain |
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| Genetic counseling of medullary breast cancer patients |
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| Terminal deletion of the long arm of chromosome 10 |
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| Novel <i>CFTR</i> mutations in black cystic fibrosis patients |
|
|
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|
|
✓ |
✓ |
black; 'black Africans'; 'black patients'; 'black patients from various ethnies' |
| Microarray‐based comparative genomic hybridization and its applications in human genetics |
|
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| Research in human genetics: the tension between doing no harm and personal autonomy |
|
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| It's only teeth – limits to genetic testing? A response to Aldred, Crawford, Savarirayan, and Savulescu. |
|
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| Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings |
|
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| Erratum |
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| Mutations in TGF‐β receptor type‐2 cause Marfan's syndrome |
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| RNAi applied to a neurodegenerative mouse model |
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| Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients |
|
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| A novel <i>STK11</i> germline mutation in two siblings with Peutz–Jeghers syndrome complicated by primary gastric cancer |
|
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| Genetic counseling for women with breast cancer: the importance of evaluating the spouse |
|
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| Autism in Angelman syndrome: implications for autism research |
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| Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy‐like phenotype |
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| Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma |
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| The dichotomy of causation vs consequence in ID |
|
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| A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length |
|
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| Mutational spectrum in Usher syndrome type II |
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| Progress in searching for susceptibility loci and genes for smoking‐related behaviour |
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| Attitudes and beliefs concerning prostate cancer genetic screening |
|
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|
| Hutchinson–Gilford progeria syndrome |
|
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|
|
| Haplotypic analyses of the aldosterone synthase gene <i>CYP11B2</i> associated with stage‐2 hypertension in northern Han Chinese |
|
|
|
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|
|
✓ |
✓ |
northern Han Chinese |
| Letters to the Editor |
|
|
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|
|
|
|
|
|
| Anticipated reactions to genetic testing for hereditary non‐polyposis colorectal cancer susceptibility* |
|
|
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|
|
| High prevalence of V37I genetic variant in the <i>connexin‐26</i> (<i>GJB2</i>) gene among non‐syndromic hearing‐impaired and control Thai individuals |
|
|
|
|
|
|
✓ |
✓ |
East Asian; Thai; populations; ethnicities |
| Exploration of the impact of messages about genes and race on lay attitudes |
|
|
|
|
|
|
✓ |
✓ |
Blacks |
| <i>SDHB</i>, <i>SDHC</i>, and <i>SDHD</i> mutation screen in sporadic and familial head and neck paragangliomas |
|
|
|
|
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|
|
| The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency |
|
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|
|
| A_16_C haplotype in the <i>Fc</i>ε<i>RI</i>β gene confers a higher risk for atopic asthma in the Indian population |
|
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|
|
| C283Y gamma‐sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high‐risk community |
|
|
|
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|
|
✓ |
✓ |
Gypsy; Roma |
| Epigenetic defects, assisted reproductive technology, and clinical practice: a call for clinicians and genetic counselors |
|
|
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|
|
|
|
|
| Familial colloid cysts of the third ventricle |
|
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|
| ‘Secrets and lies’– the difficulties of communicating within families with inherited cancer syndromes |
|
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|
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| Growing bone knowledge |
|
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|
|
| What happens when the pumps fail? Mutations in <i>ATP1A3</i> are linked to dystonia |
|
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|
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| Pointing the finger at another mutation in colorectal cancer |
|
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|
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| Werner syndrome: telomeres to the rescue? |
|
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|
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| Haplotype analysis at the <i>ETM2</i> locus in a Singaporean sample with familial essential tremor |
|
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|
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| Genetic landmarks through philately – epilepsy and clinical genetic issues |
|
|
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|
|
| Genetic variation at the perilipin (<i>PLIN</i>) locus is associated with obesity‐related phenotypes in White women |
|
|
✓ |
✓ |
|
|
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|
|
| The dynamics of X‐inactivation skewing as women age |
|
|
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|
|
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|
|
| Refined mapping of the autosomal recessive non‐syndromic deafness locus <i>DFNB13</i> using eight novel microsatellite markers |
|
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|
|
| Common variants in β<sub>2</sub>‐ and β<sub>3</sub>‐adrenergic receptor genes and uncoupling protein 1 as predictors of the risk for type 2 diabetes and body weight changes.
The Finnish Diabetes Prev |
|
|
|
|
|
|
✓ |
|
Finnish |
| Will the new cytogenetics replace the old cytogenetics? |
|
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|
|
| HD aggregates accelerate autophagy |
|
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|
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| Computational biology to the rescue: the ongoing quest to understand Bardet–Biedl syndrome |
|
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|
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| Genetic discrimination: the clinician perspective |
|
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| Genetic analysis of primary microcephaly in Indian families: novel <i>ASPM</i> mutations |
|
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|
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| Genotype‐phenotype studies in three families with mutations in the polyglutamine‐binding protein 1 gene (<i>PQBP1</i>) |
|
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|
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| Cost analysis of DNA‐based testing in a large Canadian family with multiple endocrine neoplasia type 2 |
|
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| T‐box genes and congenital heart/limb malformations |
|
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|
|
| Genetic basis of Prader–Willi syndrome in Korea: less uniparental disomy than has been recognized? |
|
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|
|
| Turning up the heat on hereditary neuropathies |
|
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|
|
| Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human |
|
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|
|
| Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity |
|
|
|
|
|
|
✓ |
✓ |
French families |
| Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16 |
|
|
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|
|
|
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|
|
| New insights in congenital bowing of the femora |
|
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|
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| Corrigendum |
|
|
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|
|
| Putting mind over matter: rethinking current strategies for unmasking the genetics of mental illness |
|
|
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|
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|
|
| Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI |
|
|
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|
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|
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|
|
| A previously undescribed frameshift deletion mutation of <i>HFE</i> (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote |
|
|
|
✓ |
|
|
|
|
|
| TP63 mutation and clefting modifier genes in an EEC syndrome family |
|
|
|
|
|
|
|
|
|
| Cholesteryl ester transfer protein promoter single‐nucleotide polymorphisms in Sp1‐binding sites affect transcription and are associated with high‐density lipoprotein cholesterol |
|
|
|
|
|
|
✓ |
✓ |
"African Americans"; "ethnic groups" |
| Genetic analysis of lethal congenital malformations causing perinatal mortality at Nizwa Hospital, Oman |
|
|
|
|
|
|
|
|
|
| Risk of placental abruption in first‐degree relatives of index patients |
|
|
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|
|
| A shared chromosome‐21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation |
|
|
|
|
|
|
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|
|
| Family cancer histories predictive of a high risk of hereditary non‐polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1 |
|
|
|
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|
|
| Neonatal salt‐wasting and 11 β‐hydroxylase deficiency in a child carrying a homozygous deletion hybrid <i>CYP11B2</i> (aldosterone synthase)–<i>CYP11B1</i> (11 β‐hydroxylase) |
|
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|
|
| Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case |
|
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|
|
| Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics |
|
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|
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| Fishing for new genes in skin biology: impact of cytogenetics on gene discovery |
|
|
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|
|
| Novel mutations in the <i>EXT1</i> gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis) |
|
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|
|
| Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease |
|
|
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|
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|
|
| Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation |
|
|
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|
|
| Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome |
|
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|
|
| So many asthma loci, so little time |
|
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|
|
| Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome |
|
|
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|
|
| Fat chance: genetic syndromes with obesity |
|
|
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|
|
|
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|
|
| Putative common origin of two <i>MLH1</i> mutations in Italian‐Quebec hereditary non‐polyposis colorectal cancer families |
|
|
|
|
|
|
✓ |
✓ |
Italian origin; Italian kindred; of Italian origin |
| Spectrum and frequencies of mutations in the <i>GJB2</i> (<i>Cx26</i>) gene among 156 Czech patients with pre‐lingual deafness |
|
|
|
|
|
|
✓ |
✓ |
"prevalent in Europe"; "Czech population"; "Czech Republic"; "Czech patients"; "gypsy heritage" |
| Detection of <i>CYP3A4</i>*<i>1B</i> and <i>CYP3A4</i>*<i>2</i> polymorphisms by RFLP. Distribution frequencies in a Mexican population |
|
|
|
|
|
|
✓ |
|
Mexican population |
| Another four bite the dust: mutations in a ubiquitously expressed filamin protein cause several skeletal dysplasias |
|
|
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|
|
|
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|
|
| New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the <i>PKHD1</i> gene |
|
|
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|
|
|
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|
|
| Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem |
|
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|
| High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism |
|
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|
|
| Cholesterol at the crossroads: Alzheimer's disease and lipid metabolism |
|
|
|
|
|
|
|
|
|
| <i>De novo</i> germline mutation in the serine–threonine kinase <i>STK11/LKB1</i> gene associated with Peutz–Jeghers syndrome |
|
|
|
|
|
|
|
|
|
| Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in <i>ARX</i> |
|
|
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|
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|
|
| Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder |
|
|
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|
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|
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|
|
| Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial <i>delta‐like</i> 3 mutations |
|
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| Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1‐17q25.3 |
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✓ |
✓ |
Pakistani |
| Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects |
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| Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder |
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| Making sense out of nonsense: the role of nonsense‐mediated decay in phenotypic variation |
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| A link between <i>ALOX5AP</i> and myocardial infarction and stroke |
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| Low Akt levels might underlie schizophrenia |
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| The long and short of it: C‐type naturietic peptide as a novel therapy for achondroplasia? |
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| Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population |
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✓ |
✓ |
Chinese population |
| ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism |
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| Mutation spectrum of the glucose‐6‐phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia |
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| The fronto‐ocular syndrome: second mother‐daughter case |
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| Breaking symmetry: a clinical overview of left‐right patterning |
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| Single nucleotide polymorphism in <i>CTH</i> associated with variation in plasma homocysteine concentration |
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✓ |
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| A rare disorder, ethylmalonic encephalopathy, is caused by mutations in a mitochondrial protein |
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| The frequency of <i>GJB2</i> mutations and the Δ (GJB6‐D13S1830) deletion as a cause of autosomal recessive non‐syndromic deafness in the Kurdish population |
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✓ |
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Kurdish population |
| Incidental neurodevelopmental episodes in the etiology of schizophrenia: An expanded model involving epigenetics and development |
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| Genetic discoveries identify novel treatments for achondroplasia and Alzheimer's disease and molecular basis of ethylmalonic encephalopathy |
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| Prader–Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization |
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| Bronchiectasis in adult patients: an expression of heterozygosity for <i>CFTR</i> gene mutations? |
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| Candidate genes for recessive non‐syndromic mental retardation on chromosome 3p (<i>MRT2A</i>)* |
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| Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families |
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✓ |
✓ |
Spanish |
| Genetic validation of β<b>‐</b>secretase as a drug target for Alzheimer's Disease |
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| Texas physicians' perceptions of genomic medicine as an innovation |
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| Getting at the heart of coronary disease |
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| Variations in high‐density lipoprotein cholesterol in relation to physical activity and <i>Taq</i> 1B polymorphism of the cholesteryl ester transfer protein gene |
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| Genomics goes to the dogs |
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| A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome |
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| Mutations in the <i>PCSK9</i> gene in Norwegian subjects with autosomal dominant hypercholesterolemia |
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✓ |
✓ |
Norwegian |
| Mutations in the <i>hMLH1</i> gene in Slovenian patients with gastric carcinoma |
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✓ |
✓ |
Slovenian |
| Genetic landmarks through philately – autism spectrum disorders: a genetic update |
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| Association between −250G/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL‐C levels in a Southern Brazilian population |
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| Prenatal diagnosis of <i>de novo</i> X;autosome translocations |
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| Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness |
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| Implementation of HaemScreen, a workplace‐based genetic screening program for hemochromatosis |
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| Deletion of the <i>TWIST</i> gene in a large five‐generation family |
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| A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization |
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| A homozygous <i>HAMP</i> mutation in a multiply consanguineous family with pseudo‐dominant juvenile hemochromatosis |
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| Germline‐sequence variants S836S and L769L in the RE arranged during Transfection (RET) proto‐oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population |
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✓ |
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French population |
| Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in <i>SBDS</i> |
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| The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9‐cM region on chromosome 11q23 |
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| Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the <i>ALMS1</i> gene |
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| A model for disclosing the first trimester part of an integrated Down's syndrome screening test |
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| Sanfilippo B syndrome: molecular defects in Greek patients |
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| Hardly a stroke of luck! (Uncovering a gene for stroke is hard work) |
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| A putative E3 ubiquitin ligase is deficient in progressive myoclonus epilepsy |
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| Novel mutations in the <i>CHST6</i> gene causing macular corneal dystrophy |
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✓ |
✓ |
Italian families |
| Genetic variation at the hormone sensitive lipase: gender‐specific association with plasma lipid and glucose concentrations |
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| Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor |
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German origin |
| The influence of <i>APOAV</i> polymorphisms (T‐1131>C and S19>W) on plasma triglyceride levels and risk of myocardial infarction |
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✓ |
✓ |
Czech population |
| Real‐time PCR‐based gene dosage assay for detecting <i>BRCA1</i> rearrangements in breast–ovarian cancer families |
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✓ |
✓ |
French families |
| Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1 |
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| Identification of the first Lebanese mutation in the <i>LPL</i> gene and description of a rapid detection method |
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| Gaucher's disease: a paradigm for interventional genetics |
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✓ |
✓ |
Ashkenazi Jewish community |
| Effective long‐term control of cardiac events with β‐blockers in a family with a common LQT1 mutation |
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| Heterozygous manifestations in female carriers of Mal de Meleda |
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| RNA‐mediated neurodegeneration from a different point of view: rCGG in the <i>Drosophila</i> eye |
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| Hereditary non‐polyposis colorectal cancer and the role of <i>hPMS2</i> and <i>hEXO1</i> mutations |
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| Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome |
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| Polymorphisms in cytokines and growth factor genes and their association with acute rejection and recurrence of hepatitis C virus disease in liver transplantation |
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✓ |
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| Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease |
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✓ |
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✓ |
✓ |
ethnic Chinese; Taiwanese; Japanese |
| The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with <i>PHF6</i> mutations |
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| The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction‐based diagnostic assay and prevalence in Quebec |
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| Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology |
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| Mutations in a G protein‐coupled receptor cause hypogonadotropic hypogonadism in humans and mice |
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| MEF2A at the heart of coronary artery disease? |
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| RUNX1: transcription factor scores a hat‐trick of autoimmune diseases |
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